#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPHP4	261734	broad.mit.edu	37	1	5993284	5993284	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:5993284G>A	ENST00000378156.4	-	10	1490	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	409					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)	p.L409L(1)		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)		CCACCCTGCAGAGGCAGGGTC	0.542																																						uc001alq.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1225-1227)CTG>TTG		nephroretinin							58.0	63.0	62.0					1																	5993284		1986	4145	6131	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.chr1:5993284G>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.1225C>T	1.37:g.5993284G>A						NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	p.L409L	NM_015102	NP_055917	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)	10	1491	-	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)	409					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1225C>T	CCDS44052.1																																																																																				PASS	0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			20	67	20	67	---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6313942	6313942	+	Missense_Mutation	SNP	C	C	T	rs186481236|rs146978653	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:6313942C>T	ENST00000377893.2	-	3	881	c.622G>A	c.(622-624)Gac>Aac	p.D208N		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D208N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCGCGGCGGTCGGCCTGGCGC	0.701													c|||	2	0.000399361	0.0	0.0	5008	,	,		17171	0.0		0.001	False		,,,				2504	0.001					uc001amp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)GAC>AAC		G protein-coupled receptor 153							29.0	31.0	30.0					1																	6313942		2198	4296	6494	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313942C>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.622G>A	1.37:g.6313942C>T	ENSP00000367125:p.Asp208Asn						p.D208N	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	882	-	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)	208			Cytoplasmic (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.622G>A	CCDS64.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	8.114	0.779486	0.16120	.	.	ENSG00000158292	ENST00000377893	T	0.71817	-0.6	4.38	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.209202	0.48286	N	0.000185	T	0.49081	0.1536	L	0.27053	0.805	0.31775	N	0.631615	P	0.42078	0.77	B	0.36504	0.226	T	0.52946	-0.8507	10	0.15066	T	0.55	-31.2341	7.9241	0.29863	0.0:0.7263:0.0:0.2737	.	208	Q6NV75	GP153_HUMAN	N	208	ENSP00000367125:D208N	ENSP00000367125:D208N	D	-	1	0	GPR153	6236529	0.920000	0.31207	0.321000	0.25320	0.026000	0.11368	1.964000	0.40462	0.504000	0.28082	-0.355000	0.07637	GAC		PASS	0.701	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			4	19	4	19	---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7792647	7792647	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:7792647G>C	ENST00000303635.7	+	12	3261	c.3054G>C	c.(3052-3054)ggG>ggC	p.G1018G	CAMTA1_ENST00000439411.2_Silent_p.G1018G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1018					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1018G(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)		GGAATGGAGGGAGCCAGGCAC	0.622			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2				Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(3052-3054)GGG>GGC		calmodulin-binding transcription activator 1							49.0	55.0	53.0					1																	7792647		2203	4299	6502	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7792647G>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3054G>C	1.37:g.7792647G>C						CAMTA1_uc010nzv.1_Silent_p.G105G|CAMTA1_uc001aok.3_Silent_p.G61G	p.G1018G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	12	3261	+	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)	1018					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3054G>C	CCDS30576.1																																																																																				PASS	0.622	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		6	5	6	5	---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8403861	8403861	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:8403861C>G	ENST00000471889.1	+	9	2420	c.2035C>G	c.(2035-2037)Ctg>Gtg	p.L679V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L713V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L679V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	679					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L679V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGACATCTCTCTGCTGAGCTG	0.652																																						uc001apb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(2035-2037)CTG>GTG		DNB5							90.0	74.0	79.0					1																	8403861		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8403861C>G	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.2035C>G	1.37:g.8403861C>G	ENSP00000418096:p.Leu679Val					SLC45A1_uc001apc.2_Missense_Mutation_p.L377V	p.L679V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2035	+	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)	679					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2035C>G	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974059	0.53720	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.82255	-1.59;-1.59;-1.59	5.04	4.13	0.48395	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.31664	0.95	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.77310	-0.2635	10	0.02654	T	1	-17.118	10.6474	0.45628	0.0:0.8382:0.0:0.1618	.	679	Q9Y2W3	S45A1_HUMAN	V	679;713;679	ENSP00000418096:L679V;ENSP00000366699:L713V;ENSP00000289877:L679V	ENSP00000289877:L679V	L	+	1	2	SLC45A1	8326448	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	3.623000	0.54224	1.106000	0.41623	0.555000	0.69702	CTG		PASS	0.652	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			18	57	18	57	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12336242	12336242	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:12336242C>T	ENST00000358136.3	+	19	2727	c.2597C>T	c.(2596-2598)tCa>tTa	p.S866L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S866L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.S866L(1)		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)		ATTTATACTTCAGATCCCAAA	0.408											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2596-2598)TCA>TTA		vacuolar protein sorting 13D isoform 1							83.0	84.0	84.0					1																	12336242		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12336242C>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.2597C>T	1.37:g.12336242C>T	ENSP00000350854:p.Ser866Leu		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_uc001atw.2_Missense_Mutation_p.S866L|VPS13D_uc001atx.2_Missense_Mutation_p.S54L	p.S866L	NM_015378	NP_056193	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)	19	2738	+	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)	866						Missense_Mutation	SNP	ENST00000358136.3	37	c.2597C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138042	0.77775	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.55413	0.52;0.53	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.69439	-0.5145	10	0.36615	T	0.2	.	19.967	0.97274	0.0:1.0:0.0:0.0	.	866;866	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	866	ENSP00000348666:S866L;ENSP00000350854:S866L	ENSP00000348666:S866L	S	+	2	0	VPS13D	12258829	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.484000	0.81180	2.714000	0.92807	0.655000	0.94253	TCA		PASS	0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		13	60	13	60	---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18691730	18691730	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:18691730G>C	ENST00000251296.1	+	6	937	c.554G>C	c.(553-555)cGa>cCa	p.R185P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	185						extracellular region (GO:0005576)		p.R185P(1)		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)		TATTTCAAACGAGATGGGGAA	0.557																																						uc001bau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(553-555)CGA>CCA		immunoglobin superfamily, member 21 precursor							48.0	48.0	48.0					1																	18691730		2198	4293	6491	SO:0001583	missense	84966					extracellular region		g.chr1:18691730G>C	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.554G>C	1.37:g.18691730G>C	ENSP00000251296:p.Arg185Pro					IGSF21_uc001bav.1_Missense_Mutation_p.R6P	p.R185P	NM_032880	NP_116269	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	937	+		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)	185					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.554G>C	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182270	0.57800	.	.	ENSG00000117154	ENST00000251296	T	0.35048	1.33	4.76	4.76	0.60689	Immunoglobulin-like fold (1);	0.056942	0.64402	D	0.000002	T	0.49184	0.1542	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.52290	-0.8595	10	0.62326	D	0.03	-21.5233	16.6848	0.85302	0.0:0.0:1.0:0.0	.	185	Q96ID5	IGS21_HUMAN	P	185	ENSP00000251296:R185P	ENSP00000251296:R185P	R	+	2	0	IGSF21	18564317	1.000000	0.71417	0.709000	0.30452	0.330000	0.28571	9.014000	0.93635	2.351000	0.79841	0.561000	0.74099	CGA		PASS	0.557	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		21	48	21	48	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22902721	22902721	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:22902721C>T	ENST00000166244.3	+	3	243	c.171C>T	c.(169-171)atC>atT	p.I57I	EPHA8_ENST00000538803.1_Silent_p.I57I|EPHA8_ENST00000374644.4_Silent_p.I57I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	57	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.I57I(2)		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)		GGGACTCCATCAACGAGGTGG	0.597																																						uc001bfx.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(169-171)ATC>ATT		ephrin receptor EphA8 isoform 1 precursor							95.0	91.0	92.0					1																	22902721		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22902721C>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.171C>T	1.37:g.22902721C>T						EPHA8_uc001bfw.2_Silent_p.I57I	p.I57I	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	296	+		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)	57			Extracellular (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.171C>T	CCDS225.1																																																																																				PASS	0.597	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		13	110	13	110	---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24995649	24995649	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:24995649C>G	ENST00000323848.9	+	14	2090	c.1775C>G	c.(1774-1776)tCt>tGt	p.S592C	SRRM1_ENST00000447431.2_Missense_Mutation_p.S604C|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S601C	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	592	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|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)	p.S592C(1)		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)		CGCTCACCTTCTCCTAGAAGA	0.468																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1774-1776)TCT>TGT		serine/arginine repetitive matrix 1							45.0	48.0	47.0					1																	24995649		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.chr1:24995649C>G	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.1775C>G	1.37:g.24995649C>G	ENSP00000326261:p.Ser592Cys					SRRM1_uc010oel.1_Missense_Mutation_p.S604C|SRRM1_uc009vrh.1_Missense_Mutation_p.S565C|SRRM1_uc009vri.1_Missense_Mutation_p.S521C	p.S592C	NM_005839	NP_005830	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)	14	1999	+		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)	592			Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1775C>G	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618409	0.66787	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.38077	1.16;1.16;1.16	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000007	T	0.51686	0.1689	L	0.57536	1.79	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.52909	0.713;0.52	T	0.50857	-0.8778	10	0.87932	D	0	-1.6884	20.4388	0.99107	0.0:1.0:0.0:0.0	.	604;592	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	C	592;604;601	ENSP00000326261:S592C;ENSP00000391430:S604C;ENSP00000363510:S601C	ENSP00000326261:S592C	S	+	2	0	SRRM1	24868236	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.960000	0.76036	2.836000	0.97738	0.655000	0.94253	TCT		PASS	0.468	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		14	67	14	67	---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27618778	27618778	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:27618778G>T	ENST00000319394.3	+	7	1087	c.552G>T	c.(550-552)ctG>ctT	p.L184L	WDTC1_ENST00000361771.3_Silent_p.L184L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	184					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)	p.L184L(1)		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)		GTGGCCAGCTGGTGGAGGCCA	0.567																																						uc009vst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(550-552)CTG>CTT		WD and tetratricopeptide repeats 1							71.0	70.0	70.0					1																	27618778		2203	4300	6503	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27618778G>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.552G>T	1.37:g.27618778G>T						WDTC1_uc001bno.2_Silent_p.L184L|WDTC1_uc001bnp.1_RNA	p.L184L	NM_015023	NP_055838	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)	7	1087	+		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)	184			WD 4.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.552G>T																																																																																					PASS	0.567	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		35	89	35	89	---	---	---	---
ZMYM6	9204	broad.mit.edu	37	1	35485050	35485050	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:35485050G>C	ENST00000357182.4	-	4	559	c.332C>G	c.(331-333)tCt>tGt	p.S111C	ZMYM6_ENST00000373333.1_Missense_Mutation_p.S111C|ZMYM6_ENST00000487874.1_Missense_Mutation_p.S111C|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000317538.5_Missense_Mutation_p.S111C|ZMYM6_ENST00000373340.2_Missense_Mutation_p.S111C	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	111					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)	p.S111C(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GAGCTGAGTAGATCCTGTCTT	0.448																																						uc001byh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(331-333)TCT>TGT		zinc finger protein 258							176.0	157.0	164.0					1																	35485050		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35485050G>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.332C>G	1.37:g.35485050G>C	ENSP00000349708:p.Ser111Cys					ZMYM6_uc001byf.1_Missense_Mutation_p.S111C|ZMYM6_uc010oht.1_Missense_Mutation_p.S14C|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.S111C|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Missense_Mutation_p.S111C|ZMYM6_uc001byi.2_Missense_Mutation_p.S111C|ZMYM6_uc001byk.2_Missense_Mutation_p.S111C	p.S111C	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			4	560	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	111					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.332C>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647266	0.67358	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.15	3.19	0.36642	TRASH (1);Zinc finger, MYM-type (1);	0.181941	0.49305	N	0.000143	T	0.57989	0.2091	L	0.43923	1.385	0.40808	D	0.98339	P;P;D	0.89917	0.765;0.793;1.0	B;P;D	0.83275	0.346;0.714;0.996	T	0.59369	-0.7467	10	0.59425	D	0.04	-8.0273	11.194	0.48703	0.0702:0.1279:0.8019:0.0	.	111;111;111	O95789-4;O95789;O95789-1	.;ZMYM6_HUMAN;.	C	111	ENSP00000362437:S111C;ENSP00000349708:S111C;ENSP00000391337:S111C;ENSP00000326695:S111C;ENSP00000362430:S111C	ENSP00000326695:S111C	S	-	2	0	ZMYM6	35257637	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.333000	0.65917	0.806000	0.34183	0.585000	0.79938	TCT		PASS	0.448	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		50	92	50	92	---	---	---	---
MRPS15	64960	broad.mit.edu	37	1	36921956	36921956	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:36921956C>T	ENST00000373116.5	-	7	629	c.468G>A	c.(466-468)ctG>ctA	p.L156L	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	156					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)	p.L156L(1)		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)				TGCTCATTAGCAGATAGCGTT	0.383																																						uc001cas.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(466-468)CTG>CTA		mitochondrial ribosomal protein S15 precursor							92.0	87.0	89.0					1																	36921956		2203	4300	6503	SO:0001819	synonymous_variant	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921956C>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.468G>A	1.37:g.36921956C>T							p.L156L	NM_031280	NP_112570	P82914	RT15_HUMAN			7	632	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	156					B2RD82|Q9H2K1	Silent	SNP	ENST00000373116.5	37	c.468G>A	CCDS411.1																																																																																				PASS	0.383	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		22	89	22	89	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44422286	44422286	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:44422286G>C	ENST00000372343.3	+	4	1679	c.1017G>C	c.(1015-1017)atG>atC	p.M339I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	339					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M339I(1)		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)				TCGTCAACATGATTATGTTCT	0.537																																						uc001ckx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1015-1017)ATG>ATC		importin 13							149.0	136.0	141.0					1																	44422286		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422286G>C	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.1017G>C	1.37:g.44422286G>C	ENSP00000361418:p.Met339Ile						p.M339I	NM_014652	NP_055467	O94829	IPO13_HUMAN			4	1812	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	339			HEAT 5.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1017G>C	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792944	0.70452	.	.	ENSG00000117408	ENST00000372343	T	0.65178	-0.14	5.75	5.75	0.90469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	L	0.47716	1.5	0.80722	D	1	B	0.28880	0.226	B	0.25884	0.064	T	0.51911	-0.8645	10	0.21540	T	0.41	-7.8662	19.9441	0.97176	0.0:0.0:1.0:0.0	.	339	O94829	IPO13_HUMAN	I	339	ENSP00000361418:M339I	ENSP00000361418:M339I	M	+	3	0	IPO13	44194873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.721000	0.93114	0.511000	0.50034	ATG		PASS	0.537	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		17	179	17	179	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	45110680	45110680	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:45110680G>A	ENST00000355387.2	+	10	1687	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Missense_Mutation_p.D413N|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_Missense_Mutation_p.D413N|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000443020.2_Missense_Mutation_p.D200N|TMEM53_ENST00000372244.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	413					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)	p.D413N(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACAGAGGCTGATGTCATCCC	0.587																																						uc001clv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1237-1239)GAT>AAT		ring finger protein 220							68.0	64.0	65.0					1																	45110680		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:45110680G>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.1237G>A	1.37:g.45110680G>A	ENSP00000347548:p.Asp413Asn					RNF220_uc001clw.1_Missense_Mutation_p.D413N|RNF220_uc010oky.1_Missense_Mutation_p.D200N|RNF220_uc010okz.1_Missense_Mutation_p.D155N|RNF220_uc001clx.1_Missense_Mutation_p.D129N|RNF220_uc001cly.1_Missense_Mutation_p.D92N|RNF220_uc001clz.1_Missense_Mutation_p.D92N|RNF220_uc001cma.1_Missense_Mutation_p.D92N|TMEM53_uc001cmb.1_Intron	p.D413N	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			10	1597	+			413					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.1237G>A	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455734	0.63401	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247;ENST00000443020;ENST00000440132;ENST00000335497;ENST00000372248	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.69078	0.991;0.991;0.974;0.997;0.993	P;P;P;P;D	0.68192	0.848;0.804;0.638;0.87;0.956	D	0.93612	0.6940	10	0.66056	D	0.02	.	19.3514	0.94389	0.0:0.0:1.0:0.0	.	155;200;92;129;413	B4DJE2;B4DLZ9;D3DPZ1;C9JJY2;Q5VTB9	.;.;.;.;RN220_HUMAN	N	413;413;413;413;200;129;155;155	ENSP00000347548:D413N;ENSP00000354872:D413N;ENSP00000361321:D413N;ENSP00000414640:D200N;ENSP00000388533:D129N;ENSP00000335580:D155N	ENSP00000335580:D155N	D	+	1	0	RNF220	44883267	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	8.525000	0.90583	2.826000	0.97356	0.561000	0.74099	GAT		PASS	0.587	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		9	36	9	36	---	---	---	---
TESK2	10420	broad.mit.edu	37	1	45887417	45887417	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:45887417G>A	ENST00000372086.3	-	3	724	c.324C>T	c.(322-324)ctC>ctT	p.L108L	TESK2_ENST00000372084.1_Silent_p.L108L|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Silent_p.L25L|TESK2_ENST00000341771.6_Silent_p.L108L|TESK2_ENST00000451835.2_Silent_p.L108L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.L108L(2)		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)					TGGGATGGGAGAGTCTATTCA	0.428																																						uc001cns.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(322-324)CTC>CTT		testis-specific protein kinase 2							284.0	259.0	267.0					1																	45887417		1908	4126	6034	SO:0001819	synonymous_variant	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45887417G>A	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.324C>T	1.37:g.45887417G>A						TESK2_uc009vxr.1_Silent_p.L108L|TESK2_uc010olo.1_Silent_p.L25L|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Silent_p.L108L	p.L108L	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			3	727	-	Acute lymphoblastic leukemia(166;0.155)		108			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	c.324C>T	CCDS41323.1																																																																																				PASS	0.428	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		11	182	11	182	---	---	---	---
TESK2	10420	broad.mit.edu	37	1	45887497	45887497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:45887497G>A	ENST00000372086.3	-	3	644	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	TESK2_ENST00000372084.1_Nonsense_Mutation_p.Q82*|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_5'UTR|TESK2_ENST00000341771.6_Nonsense_Mutation_p.Q82*|TESK2_ENST00000451835.2_Nonsense_Mutation_p.Q82*	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.Q82*(1)		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)					GCCATCACCTGACCAGAAGCT	0.418																																						uc001cns.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(244-246)CAG>TAG		testis-specific protein kinase 2							172.0	156.0	161.0					1																	45887497		1922	4129	6051	SO:0001587	stop_gained	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45887497G>A	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.244C>T	1.37:g.45887497G>A	ENSP00000361158:p.Gln82*					TESK2_uc009vxr.1_Nonsense_Mutation_p.Q82*|TESK2_uc010olo.1_5'UTR|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Nonsense_Mutation_p.Q82*	p.Q82*	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			3	647	-	Acute lymphoblastic leukemia(166;0.155)		82			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Nonsense_Mutation	SNP	ENST00000372086.3	37	c.244C>T	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	38	7.236095	0.98154	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000451835	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-15.5955	18.1306	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000343940:Q82X	Q	-	1	0	TESK2	45660084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.331000	0.79192	2.652000	0.90054	0.561000	0.74099	CAG		PASS	0.418	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		6	136	6	136	---	---	---	---
ATPAF1	64756	broad.mit.edu	37	1	47123837	47123837	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:47123837C>G	ENST00000371937.4	-	4	555	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000329231.4_Missense_Mutation_p.E174Q|ATPAF1_ENST00000525633.1_5'Flank|ATPAF1_ENST00000574428.1_Missense_Mutation_p.E151Q|ATPAF1_ENST00000532925.1_Missense_Mutation_p.E63Q|ATPAF1_ENST00000576409.1_Missense_Mutation_p.E174Q	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	151					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)		p.E151Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TTTACCATCTCAATGTTAAAG	0.308																																					Melanoma(138;107 1777 21672 30337 52312)	uc001cqh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(451-453)GAG>CAG		ATP synthase mitochondrial F1 complex assembly							150.0	143.0	145.0					1																	47123837		2202	4299	6501	SO:0001583	missense	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47123837C>G	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.451G>C	1.37:g.47123837C>G	ENSP00000361005:p.Glu151Gln					ATPAF1_uc001cqg.2_5'UTR|ATPAF1_uc009vyk.2_5'UTR|ATPAF1_uc010omg.1_Missense_Mutation_p.E63Q|ATPAF1_uc001cqi.2_Missense_Mutation_p.E151Q	p.E151Q	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN			4	556	-	Acute lymphoblastic leukemia(166;0.155)		151					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37	c.451G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.299221|4.299221	0.81025|0.81025	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000329231;ENST00000532925|ENST00000534216	T|.	0.55234|.	0.53|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.202737|.	0.49916|.	D|.	0.000124|.	T|T	0.73281|0.73281	0.3567|0.3567	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.979|.	D;D;P|.	0.69307|.	0.934;0.963;0.723|.	T|T	0.71182|0.71182	-0.4668|-0.4668	10|5	0.56958|.	D|.	0.05|.	-14.6335|-14.6335	16.2935|16.2935	0.82761|0.82761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	63;151;151|.	B7Z7I6;A8MRA7;Q5TC12|.	.;.;ATPF1_HUMAN|.	Q|F	151;65;151;63|22	ENSP00000361005:E151Q|.	ENSP00000330685:E151Q|.	E|L	-|-	1|3	0|2	ATPAF1|ATPAF1	46896424|46896424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.159000|4.159000	0.58157|0.58157	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAG|TTG		PASS	0.308	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745		3	72	3	72	---	---	---	---
NRD1	4898	broad.mit.edu	37	1	52289374	52289374	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:52289374T>A	ENST00000354831.7	-	9	1514	c.1325A>T	c.(1324-1326)tAc>tTc	p.Y442F	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.Y242F|NRD1_ENST00000539524.1_Missense_Mutation_p.Y310F|NRD1_ENST00000352171.7_Missense_Mutation_p.Y374F	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	373					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)	p.Y442F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGAGAAGAGTAGTAACGCAT	0.358																																						uc001ctc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)TAC>TTC		nardilysin isoform a							104.0	102.0	102.0					1																	52289374		2203	4299	6502	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.chr1:52289374T>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.1325A>T	1.37:g.52289374T>A	ENSP00000346890:p.Tyr442Phe					NRD1_uc009vzb.2_Missense_Mutation_p.Y137F|NRD1_uc001ctd.3_Missense_Mutation_p.Y374F|NRD1_uc001cte.2_Missense_Mutation_p.Y310F|NRD1_uc001ctf.2_Missense_Mutation_p.Y374F|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.Y242F	p.Y442F	NM_002525	NP_002516	O43847	NRDC_HUMAN			9	1647	-			373					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.1325A>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	32	5.109531	0.94292	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.53	5.53	0.82687	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	0.51024	0.1650	H	0.95780	3.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67074	-0.5762	10	0.87932	D	0	-8.4759	15.6605	0.77182	0.0:0.0:0.0:1.0	.	374;373;442	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	F	374;442;310;374;242	ENSP00000262679:Y374F;ENSP00000346890:Y442F;ENSP00000444416:Y310F;ENSP00000442262:Y242F	ENSP00000262679:Y374F	Y	-	2	0	NRD1	52061962	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.600000	0.82769	2.112000	0.64535	0.533000	0.62120	TAC		PASS	0.358	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		23	130	23	130	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52991868	52991868	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:52991868T>C	ENST00000371544.3	-	2	347	c.85A>G	c.(85-87)Ata>Gta	p.I29V	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.I29V|ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.I29V	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	29					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.I29V(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGATTACCTATAACTTGAACT	0.284																																						uc001ctx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(85-87)ATA>GTA		zinc finger, CCHC domain containing 11 isoform							54.0	55.0	55.0					1																	52991868		2199	4295	6494	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991868T>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.85A>G	1.37:g.52991868T>C	ENSP00000360599:p.Ile29Val					ZCCHC11_uc001cty.2_Missense_Mutation_p.I29V|ZCCHC11_uc001ctz.2_Missense_Mutation_p.I29V|ZCCHC11_uc009vze.1_Missense_Mutation_p.I29V|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.I29V|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.I29V	p.I29V	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			2	319	-			29					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.85A>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	8.941	0.965809	0.18583	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809;ENST00000470626;ENST00000524582	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.63	4.46	0.54185	.	0.164641	0.42682	D	0.000664	T	0.71467	0.3343	L	0.51422	1.61	0.24072	N	0.995974	B;B;B;B	0.28850	0.144;0.028;0.225;0.009	B;B;B;B	0.27262	0.035;0.021;0.078;0.007	T	0.57768	-0.7754	10	0.05351	T	0.99	.	7.0033	0.24821	0.0:0.0756:0.1495:0.7749	.	29;29;29;29	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	V	29	ENSP00000257177:I29V;ENSP00000360599:I29V;ENSP00000433486:I29V;ENSP00000348063:I29V	ENSP00000257177:I29V	I	-	1	0	ZCCHC11	52764456	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.383000	0.34385	2.145000	0.66743	0.533000	0.62120	ATA		PASS	0.284	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		22	52	22	52	---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60312778	60312778	+	Missense_Mutation	SNP	G	G	A	rs367708992		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:60312778G>A	ENST00000371208.3	+	10	1107	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E242K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	284	Sufficient for interaction with microtubules.				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)	p.E284K(1)		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)					GCAGCTAATCGAATTCCAGCA	0.348																																						uc009wad.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(850-852)GAA>AAA		hook homolog 1		G	LYS/GLU	0,4406		0,0,2203	118.0	123.0	121.0		850	6.1	1.0	1		121	1,8597	1.2+/-3.3	0,1,4298	no	missense	HOOK1	NM_015888.4	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	284/729	60312778	1,13003	2203	4299	6502	SO:0001583	missense	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.chr1:60312778G>A	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.850G>A	1.37:g.60312778G>A	ENSP00000360252:p.Glu284Lys					HOOK1_uc001czo.2_Missense_Mutation_p.E284K|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.E242K	p.E284K	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			11	952	+	all_cancers(7;0.000129)		284			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.850G>A	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134889	0.94517	0.0	1.16E-4	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.22743	1.94;1.94	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.20338	-1.0278	10	0.10636	T	0.68	.	20.6087	0.99469	0.0:0.0:1.0:0.0	.	284	Q9UJC3	HOOK1_HUMAN	K	284;242	ENSP00000360252:E284K;ENSP00000378928:E242K	ENSP00000360252:E284K	E	+	1	0	HOOK1	60085366	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	9.471000	0.97696	2.866000	0.98385	0.650000	0.86243	GAA		PASS	0.348	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		24	152	24	152	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62503707	62503707	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:62503707C>G	ENST00000371158.2	+	30	4132	c.4018C>G	c.(4018-4020)Cca>Gca	p.P1340A	INADL_ENST00000543708.1_Missense_Mutation_p.P124A|INADL_ENST00000316485.6_Missense_Mutation_p.P1340A|INADL_ENST00000545929.1_Missense_Mutation_p.P13A	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1340					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.P1340A(2)		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						ATCAAGTTCTCCATCTTCTAT	0.383																																						uc001dab.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(4018-4020)CCA>GCA		InaD-like							175.0	142.0	154.0					1																	62503707		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.chr1:62503707C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4018C>G	1.37:g.62503707C>G	ENSP00000360200:p.Pro1340Ala					INADL_uc009waf.1_Missense_Mutation_p.P1340A|INADL_uc001daa.2_Missense_Mutation_p.P1340A|INADL_uc001dad.3_Missense_Mutation_p.P1037A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P124A|INADL_uc009wag.2_Missense_Mutation_p.P124A|INADL_uc010oou.1_Missense_Mutation_p.P13A	p.P1340A	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			30	4132	+			1340					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4018C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480292	0.26598	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708;ENST00000545929	T;T;T;T;T	0.32272	2.61;2.53;3.08;2.15;1.46	4.93	4.02	0.46733	.	0.330243	0.26334	N	0.024976	T	0.29389	0.0732	M	0.65498	2.005	0.26586	N	0.973293	B;B;B;B;B;B	0.33883	0.341;0.121;0.141;0.43;0.042;0.191	B;B;B;B;B;B	0.31101	0.124;0.021;0.078;0.122;0.012;0.069	T	0.15636	-1.0430	10	0.33940	T	0.23	.	10.4815	0.44695	0.0:0.9088:0.0:0.0912	.	13;124;799;1340;1340;1340	F5GY89;B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;.;INADL_HUMAN;.	A	1340;1340;1340;1340;124;124;13	ENSP00000360200:P1340A;ENSP00000326199:P1340A;ENSP00000307496:P124A;ENSP00000445790:P124A;ENSP00000440094:P13A	ENSP00000307496:P124A	P	+	1	0	INADL	62276295	0.678000	0.27586	0.055000	0.19348	0.211000	0.24417	2.663000	0.46774	1.294000	0.44707	0.655000	0.94253	CCA		PASS	0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		11	160	11	160	---	---	---	---
L1TD1	54596	broad.mit.edu	37	1	62672662	62672662	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:62672662G>A	ENST00000498273.1	+	3	657	c.362G>A	c.(361-363)gGa>gAa	p.G121E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	121								p.G121E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaaatagaaggagaaaactct	0.323																																						uc001dae.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)GGA>GAA		LINE-1 type transposase domain containing 1							67.0	78.0	74.0					1																	62672662		2192	4293	6485	SO:0001583	missense	54596							g.chr1:62672662G>A	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.362G>A	1.37:g.62672662G>A	ENSP00000419901:p.Gly121Glu						p.G121E	NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN			3	664	+			121					Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.362G>A	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	7.633	0.679239	0.14907	.	.	ENSG00000240563	ENST00000498273	T	0.07444	3.19	2.21	-1.87	0.07737	.	.	.	.	.	T	0.03011	0.0089	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.43909	-0.9362	9	0.02654	T	1	.	2.9937	0.05991	0.4479:0.2363:0.3158:0.0	.	121	Q5T7N2	LITD1_HUMAN	E	121	ENSP00000419901:G121E	ENSP00000419901:G121E	G	+	2	0	L1TD1	62445250	0.002000	0.14202	0.001000	0.08648	0.080000	0.17528	0.148000	0.16224	-0.450000	0.07107	0.313000	0.20887	GGA		PASS	0.323	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		24	127	24	127	---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67486081	67486081	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:67486081G>C	ENST00000235345.5	-	10	932	c.847C>G	c.(847-849)Ctt>Gtt	p.L283V	SLC35D1_ENST00000506472.2_Missense_Mutation_p.L204V	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	283					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)	p.L283V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GTAGTTGTAAGAGCAGAATTA	0.328																																						uc001ddk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(847-849)CTT>GTT		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						109.0	108.0	108.0					1																	67486081		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.chr1:67486081G>C	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.847C>G	1.37:g.67486081G>C	ENSP00000235345:p.Leu283Val					SLC35D1_uc010oph.1_Missense_Mutation_p.L204V	p.L283V	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			10	1231	-			283			Helical; (Potential).		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.847C>G	CCDS636.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675898	0.88445	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.65732	-0.17;-0.17	6.16	6.16	0.99307	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.988	T	0.77856	-0.2432	10	0.45353	T	0.12	-4.3387	19.6313	0.95704	0.0:0.0:1.0:0.0	.	204;283	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	V	283;204	ENSP00000235345:L283V;ENSP00000445189:L204V	ENSP00000235345:L283V	L	-	1	0	SLC35D1	67258669	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.040000	0.64191	2.937000	0.99478	0.650000	0.86243	CTT		PASS	0.328	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		12	140	12	140	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75112383	75112383	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:75112383G>T	ENST00000326665.5	-	3	429	c.211C>A	c.(211-213)Cag>Aag	p.Q71K		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		71								p.Q71K(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						AAAATTGCCTGGGCTAAGCAT	0.299																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(211-213)CAG>AAG		hypothetical protein LOC127254							33.0	30.0	31.0					1																	75112383		2036	3894	5930	SO:0001583	missense	127254							g.chr1:75112383G>T																												ENST00000326665.5:c.211C>A	1.37:g.75112383G>T	ENSP00000322609:p.Gln71Lys						p.Q71K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			3	430	-			71					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.211C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092854	0.76756	.	.	ENSG00000178965	ENST00000326665	T	0.15017	2.46	5.71	4.79	0.61399	.	.	.	.	.	T	0.21307	0.0513	L	0.56769	1.78	0.80722	D	1	D	0.61697	0.99	P	0.56088	0.791	T	0.00252	-1.1876	9	0.44086	T	0.13	-10.9098	13.9729	0.64252	0.0755:0.0:0.9245:0.0	.	71	Q5RHP9	CA173_HUMAN	K	71	ENSP00000322609:Q71K	ENSP00000322609:Q71K	Q	-	1	0	C1orf173	74884971	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.555000	0.60767	2.699000	0.92147	0.650000	0.86243	CAG		PASS	0.299	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			3	10	3	10	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77759537	77759537	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:77759537C>G	ENST00000354567.2	+	3	570	c.307C>G	c.(307-309)Caa>Gaa	p.Q103E	AK5_ENST00000317704.4_Intron|AK5_ENST00000344720.5_Missense_Mutation_p.Q77E	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	103					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.Q103E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCCAATCCATCAATTCTCCAT	0.418																																						uc001dhn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(307-309)CAA>GAA		adenylate kinase 5 isoform 1							65.0	67.0	66.0					1																	77759537		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77759537C>G	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.307C>G	1.37:g.77759537C>G	ENSP00000346577:p.Gln103Glu					AK5_uc001dho.2_Missense_Mutation_p.Q77E|AK5_uc001dhm.1_Intron	p.Q103E	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			3	564	+			103					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.307C>G	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720149	0.89205	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.83335	-0.81;-1.06;-1.71	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.32530	0.975	0.80722	D	1	D	0.58620	0.983	P	0.49752	0.621	T	0.74156	-0.3756	10	0.27785	T	0.31	-27.4246	18.9488	0.92632	0.0:1.0:0.0:0.0	.	103	Q9Y6K8	KAD5_HUMAN	E	103;77;77	ENSP00000346577:Q103E;ENSP00000341430:Q77E;ENSP00000434409:Q77E	ENSP00000341430:Q77E	Q	+	1	0	AK5	77532125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.434000	0.80377	2.568000	0.86640	0.561000	0.74099	CAA		PASS	0.418	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		4	76	4	76	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103380302	103380302	+	Silent	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:103380302A>T	ENST00000370096.3	-	51	4194	c.3882T>A	c.(3880-3882)ggT>ggA	p.G1294G	COL11A1_ENST00000353414.4_Silent_p.G1255G|COL11A1_ENST00000512756.1_Silent_p.G1178G|COL11A1_ENST00000358392.2_Silent_p.G1306G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1294	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1306G(1)|p.G1294G(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)		GCCCCTTGGCACCTGGAGGTC	0.493																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3880-3882)GGT>GGA		alpha 1 type XI collagen isoform A							43.0	44.0	44.0					1																	103380302		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103380302A>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.3882T>A	1.37:g.103380302A>T						COL11A1_uc001duk.2_Silent_p.G490G|COL11A1_uc001dum.2_Silent_p.G1306G|COL11A1_uc001dun.2_Silent_p.G1255G|COL11A1_uc009weh.2_Silent_p.G1178G	p.G1294G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	51	4200	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1294			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3882T>A	CCDS778.1																																																																																				PASS	0.493	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	44	5	44	---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109883349	109883349	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:109883349C>T	ENST00000256637.6	-	10	1319	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SORT1_ENST00000538502.1_Missense_Mutation_p.E284K	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	421					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)	p.E421K(1)		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)		GACTCACCTTCGGAGAGCACG	0.552																																						uc001dxm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1261-1263)GAA>AAA		sortilin 1 preproprotein							139.0	108.0	118.0					1																	109883349		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.chr1:109883349C>T	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.1261G>A	1.37:g.109883349C>T	ENSP00000256637:p.Glu421Lys					SORT1_uc010ovi.1_Missense_Mutation_p.E284K	p.E421K	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	10	1310	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	421			Extracellular (Potential).		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1261G>A	CCDS798.1	.	.	.	.	.	.	.	.	.	.	c	17.34	3.365181	0.61513	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.29142	1.58;1.58	5.42	5.42	0.78866	VPS10 (1);	0.052787	0.64402	D	0.000001	T	0.13200	0.0320	L	0.58810	1.83	0.58432	D	0.999997	B;P	0.36577	0.025;0.558	B;B	0.18871	0.005;0.023	T	0.06463	-1.0825	10	0.08837	T	0.75	.	18.3624	0.90379	0.0:1.0:0.0:0.0	.	284;421	B4DWI3;Q99523	.;SORT_HUMAN	K	421;284	ENSP00000256637:E421K;ENSP00000438597:E284K	ENSP00000256637:E421K	E	-	1	0	SORT1	109684872	0.998000	0.40836	0.978000	0.43139	0.535000	0.34838	3.764000	0.55264	2.702000	0.92279	0.651000	0.88453	GAA		PASS	0.552	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		9	87	9	87	---	---	---	---
PSMA5	5686	broad.mit.edu	37	1	109944647	109944647	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:109944647G>C	ENST00000271308.4	-	9	734	c.714C>G	c.(712-714)atC>atG	p.I238M	PSMA5_ENST00000538610.1_Missense_Mutation_p.I180M|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	238					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)	p.I238M(1)		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)		AAATGTCCTTGATAACCTCTT	0.408																																						uc001dxn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)ATC>ATG		proteasome alpha 5 subunit							150.0	149.0	149.0					1																	109944647		2203	4300	6503	SO:0001583	missense	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.chr1:109944647G>C	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.714C>G	1.37:g.109944647G>C	ENSP00000271308:p.Ile238Met					PSMA5_uc010ovj.1_Missense_Mutation_p.I180M	p.I238M	NM_002790	NP_002781	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)	9	799	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	238					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	c.714C>G	CCDS799.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295119	0.40594	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	T;T	0.69306	-0.39;0.88	5.53	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.62154	1.92	0.53688	D	0.999973	B	0.24368	0.102	B	0.23018	0.043	T	0.57165	-0.7858	10	0.59425	D	0.04	-8.4106	9.4811	0.38902	0.1607:0.0:0.8393:0.0	.	238	P28066	PSA5_HUMAN	M	180;238	ENSP00000440618:I180M;ENSP00000271308:I238M	ENSP00000271308:I238M	I	-	3	3	PSMA5	109746170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.123000	0.50453	1.580000	0.49851	0.655000	0.94253	ATC		PASS	0.408	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		27	179	27	179	---	---	---	---
CTTNBP2NL	55917	broad.mit.edu	37	1	112958854	112958854	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:112958854G>A	ENST00000271277.6	+	3	292	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	23					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)	p.E23K(1)		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)		AGGAGAGCTTGAAGCAAGGGA	0.338																																						uc001ebx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(67-69)GAA>AAA		CTTNBP2 N-terminal like							89.0	89.0	89.0					1																	112958854		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112958854G>A	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.67G>A	1.37:g.112958854G>A	ENSP00000271277:p.Glu23Lys						p.E23K	NM_018704	NP_061174	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)	3	295	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	23					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.67G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222114	0.95139	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.46819	0.86;0.86	5.63	5.63	0.86233	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.64529	-0.6386	10	0.72032	D	0.01	-6.9454	17.1572	0.86794	0.0:0.0:1.0:0.0	.	23	Q9P2B4	CT2NL_HUMAN	K	23	ENSP00000271277:E23K;ENSP00000390976:E23K	ENSP00000271277:E23K	E	+	1	0	CTTNBP2NL	112760377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.491000	0.73649	2.638000	0.89438	0.655000	0.94253	GAA		PASS	0.338	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		8	108	8	108	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113657094	113657094	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:113657094G>C	ENST00000361127.5	+	15	2324	c.2126G>C	c.(2125-2127)cGa>cCa	p.R709P	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	709	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)		p.R709P(1)		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)		ACAGTAACACGAGGTGAAACT	0.433																																						uc001edf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2125-2127)CGA>CCA		leucine-rich repeats and immunoglobulin-like							77.0	72.0	74.0					1																	113657094		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113657094G>C	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.2126G>C	1.37:g.113657094G>C	ENSP00000355396:p.Arg709Pro					LRIG2_uc009wgn.1_Missense_Mutation_p.R606P	p.R709P	NM_014813	NP_055628	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	2324	+	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)	709			Ig-like C2-type 3.|Extracellular (Potential).		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.2126G>C	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337656	0.60963	.	.	ENSG00000198799	ENST00000361127	T	0.66995	-0.24	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.17838	0.53	0.54753	D	0.999981	P	0.43392	0.805	P	0.51701	0.677	T	0.53301	-0.8458	10	0.31617	T	0.26	.	13.4134	0.60956	0.0756:0.0:0.9244:0.0	.	709	O94898	LRIG2_HUMAN	P	709	ENSP00000355396:R709P	ENSP00000355396:R709P	R	+	2	0	LRIG2	113458617	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.663000	0.74431	2.499000	0.84300	0.462000	0.41574	CGA		PASS	0.433	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		30	73	30	73	---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117629135	117629135	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:117629135C>T	ENST00000369466.4	+	12	2195	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	717	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)	p.L717L(1)		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)		GTGCAAACCTCAATGTGGAGG	0.537																																						uc001egy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2149-2151)CTC>CTT		transcription termination factor, RNA polymerase							60.0	53.0	55.0					1																	117629135		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:117629135C>T	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.2151C>T	1.37:g.117629135C>T							p.L717L	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	12	2171	+	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)	717			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.2151C>T	CCDS892.1																																																																																				PASS	0.537	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			7	39	7	39	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117654991	117654991	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:117654991G>T	ENST00000256649.4	-	6	2205	c.1679C>A	c.(1678-1680)tCt>tAt	p.S560Y	TRIM45_ENST00000369461.3_Missense_Mutation_p.S503Y|TRIM45_ENST00000369464.3_Missense_Mutation_p.S542Y	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	560					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S560Y(1)		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)		TGTGCATTCAGATTTCTCATT	0.527																																						uc001egz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1678-1680)TCT>TAT		tripartite motif-containing 45 isoform 1							107.0	96.0	100.0					1																	117654991		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117654991G>T		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.1679C>A	1.37:g.117654991G>T	ENSP00000256649:p.Ser560Tyr					TRIM45_uc009whe.2_Missense_Mutation_p.S542Y|TRIM45_uc001eha.2_Missense_Mutation_p.S456Y	p.S560Y	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	6	2267	-	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)	560					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1679C>A	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541859	0.65198	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;D;D	0.86230	-1.84;-2.09;-1.61	4.3	4.3	0.51218	.	0.376430	0.27871	N	0.017506	D	0.91808	0.7408	M	0.76002	2.32	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.92924	0.6358	10	0.87932	D	0	-0.0437	15.9372	0.79720	0.0:0.0:1.0:0.0	.	542;560	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	Y	560;542;503	ENSP00000256649:S560Y;ENSP00000358476:S542Y;ENSP00000358473:S503Y	ENSP00000256649:S560Y	S	-	2	0	TRIM45	117456514	1.000000	0.71417	0.964000	0.40570	0.366000	0.29705	8.549000	0.90672	2.246000	0.74042	0.557000	0.71058	TCT		PASS	0.527	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		16	106	16	106	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	118035835	118035835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:118035835C>G	ENST00000356554.3	+	9	1970	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	412					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)	p.S412*(1)		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)		TGGTTGATGTCAGATAAAACA	0.368																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1234-1236)TCA>TGA		mannosidase, alpha, class 1A, member 2							140.0	126.0	131.0					1																	118035835		2203	4300	6503	SO:0001587	stop_gained	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.chr1:118035835C>G	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.1235C>G	1.37:g.118035835C>G	ENSP00000348959:p.Ser412*					MAN1A2_uc009whg.1_Nonsense_Mutation_p.S202*	p.S412*	NM_006699	NP_006690	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)	9	1956	+	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)	412			Lumenal (Potential).		Q9H510	Nonsense_Mutation	SNP	ENST00000356554.3	37	c.1235C>G	CCDS895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.618699|11.618699	0.99583|0.99583	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000449370|ENST00000356554;ENST00000369450	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.61837|.	0.2379|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.60505|.	-0.7250|.	3|.	.|0.31617	.|T	.|0.26	-14.3636|-14.3636	16.3553|16.3553	0.83233|0.83233	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	145|412;176	.|.	.|ENSP00000348959:S412X	Q|S	+|+	1|2	0|0	MAN1A2|MAN1A2	117837358|117837358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.364000|7.364000	0.79526|0.79526	2.456000|2.456000	0.83038|0.83038	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.368	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		5	70	5	70	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120468265	120468265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:120468265G>A	ENST00000256646.2	-	25	4393	c.4174C>T	c.(4174-4176)Cag>Tag	p.Q1392*	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1392	EGF-like 35. {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)	p.Q1392*(1)		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)		GGCTGGCGCTGAGGGTGGCAG	0.682			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Nonsense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(4174-4176)CAG>TAG		notch 2 preproprotein							30.0	31.0	31.0					1																	120468265		2196	4294	6490	SO:0001587	stop_gained	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.chr1:120468265G>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.4174C>T	1.37:g.120468265G>A	ENSP00000256646:p.Gln1392*						p.Q1392*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	25	4430	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1392			Extracellular (Potential).|EGF-like 35.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.4174C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	44	10.710419	0.99454	.	.	ENSG00000134250	ENST00000256646	.	.	.	5.73	5.73	0.89815	.	0.000000	0.35970	U	0.002865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	13.8098	0.63256	0.0:0.0:0.8471:0.1529	.	.	.	.	X	1392	.	ENSP00000256646:Q1392X	Q	-	1	0	NOTCH2	120269788	0.984000	0.35163	1.000000	0.80357	0.993000	0.82548	3.274000	0.51631	2.707000	0.92482	0.561000	0.74099	CAG		PASS	0.682	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	40	7	40	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145112515	145112515	+	RNA	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:145112515C>A	ENST00000453618.1	+	0	816							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)											GAGAAGCACTCTCAGGTATCT	0.413																																						uc001eml.1																			0					0						c.(487-489)CTC>CTA		SEC22 vesicle trafficking protein homolog B							161.0	151.0	154.0					1																	145112515		2097	4239	6336			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.chr1:145112515C>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.145112515C>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.L163L	NM_004892	NP_004883	O75396	SC22B_HUMAN			6	629	+			163			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		A8K1G0	Silent	SNP	ENST00000453618.1	37	c.489C>A																																																																																					PASS	0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		4	115	4	115	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145281550	145281550	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:145281550C>T	ENST00000369340.3	+	5	924	c.480C>T	c.(478-480)ctC>ctT	p.L160L	NOTCH2NL_ENST00000344859.3_Silent_p.L160L|RP11-458D21.5_ENST00000468030.1_Silent_p.L160L|NOTCH2NL_ENST00000362074.6_Silent_p.L160L			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	160	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L160L(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCACCTGCCTCAACCTGCCTG	0.562																																						uc001emn.3																			4	Substitution - coding silent(4)		lung(4)	ovary(1)	1						c.(478-480)CTC>CTT		Notch homolog 2 N-terminal like protein							162.0	168.0	166.0					1																	145281550		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281550C>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.480C>T	1.37:g.145281550C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA	p.L160L	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	850	+			160			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.480C>T	CCDS909.1																																																																																				PASS	0.562	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		12	249	12	249	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783774	149783774	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:149783774C>T	ENST00000369167.1	-	1	140	c.105G>A	c.(103-105)aaG>aaA	p.K35K	HIST2H2BF_ENST00000427880.2_Silent_p.K35K|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Silent_p.K35K	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	35					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K35K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					AGTAGCTCTCCTTGCGGCTGC	0.572																																						uc001esr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)AAG>AAA		histone cluster 2, H2bf isoform a							192.0	174.0	180.0					1																	149783774		2203	4298	6501	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783774C>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.105G>A	1.37:g.149783774C>T						HIST2H2BF_uc010pbj.1_Silent_p.K35K|HIST2H2BF_uc010pbk.1_Silent_p.K35K	p.K35K	NM_001024599	NP_001019770	Q5QNW6	H2B2F_HUMAN			1	155	-	Breast(34;0.0124)|all_hematologic(923;0.127)		35					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.105G>A	CCDS30846.1																																																																																				PASS	0.572	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		107	237	107	237	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150429815	150429815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:150429815C>T	ENST00000369068.4	+	8	926	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	RPRD2_ENST00000539519.1_Nonsense_Mutation_p.Q282*|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Nonsense_Mutation_p.Q282*	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	308						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.Q308*(2)		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						GAAGTTGGATCAATTGAAGTC	0.418																																						uc009wlr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(922-924)CAA>TAA		Regulation of nuclear pre-mRNA domain containing							103.0	99.0	101.0					1																	150429815		1874	4112	5986	SO:0001587	stop_gained	23248						protein binding	g.chr1:150429815C>T	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.922C>T	1.37:g.150429815C>T	ENSP00000358064:p.Gln308*					RPRD2_uc010pcc.1_Nonsense_Mutation_p.Q282*|RPRD2_uc001eup.3_Nonsense_Mutation_p.Q282*	p.Q308*	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			8	1123	+			308					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	c.922C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456968	0.84317	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	.	.	.	5.18	5.18	0.71444	.	0.168136	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.1807	19.241	0.93883	0.0:1.0:0.0:0.0	.	.	.	.	X	282;282;308	.	ENSP00000358064:Q308X	Q	+	1	0	RPRD2	148696439	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.282000	0.58971	2.841000	0.97950	0.637000	0.83480	CAA		PASS	0.418	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		52	111	52	111	---	---	---	---
GOLPH3L	55204	broad.mit.edu	37	1	150620868	150620868	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:150620868C>T	ENST00000271732.3	-	5	831	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.E219K	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	263					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)	p.E263K(1)		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)			CCTTCCACTTCAGGGTCCAGT	0.488																																						uc001evj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(787-789)GAA>AAA		Golgi phosphoprotein 3-like							124.0	115.0	118.0					1																	150620868		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150620868C>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.787G>A	1.37:g.150620868C>T	ENSP00000271732:p.Glu263Lys					GOLPH3L_uc010pci.1_Missense_Mutation_p.E219K	p.E263K	NM_018178	NP_060648	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	1004	-	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)		263					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.787G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405104	0.96051	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514	.	.	.	5.44	5.44	0.79542	.	0.067735	0.64402	D	0.000007	T	0.68879	0.3049	M	0.88906	2.99	0.58432	D	0.999999	P;P	0.50943	0.94;0.747	P;B	0.48141	0.568;0.12	T	0.72276	-0.4341	9	0.39692	T	0.17	-18.4738	17.9984	0.89191	0.0:1.0:0.0:0.0	.	219;263	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	K	263;285;219	.	ENSP00000271732:E263K	E	-	1	0	GOLPH3L	148887492	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.264000	0.78432	2.832000	0.97577	0.655000	0.94253	GAA		PASS	0.488	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		25	127	25	127	---	---	---	---
S100A13	6284	broad.mit.edu	37	1	153591394	153591394	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:153591394C>G	ENST00000392623.1	-	3	464	c.274G>C	c.(274-276)Gac>Cac	p.D92H	S100A13_ENST00000491177.1_5'UTR|S100A13_ENST00000440685.2_Missense_Mutation_p.D92H|S100A14_ENST00000476873.1_5'Flank|S100A14_ENST00000368701.1_5'Flank|S100A14_ENST00000344616.2_5'Flank|S100A14_ENST00000368700.3_5'Flank|S100A13_ENST00000392622.1_Missense_Mutation_p.D92H|S100A13_ENST00000339556.4_Missense_Mutation_p.D92H|S100A13_ENST00000368699.1_Missense_Mutation_p.D92H|S100A14_ENST00000368702.1_5'Flank	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	92					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)	p.D92H(1)		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)	ATCTTCAGGTCTTTCTTCTTC	0.517																																					NSCLC(156;1296 1989 17590 30930 49554)	uc001fcf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)GAC>CAC		S100 calcium binding protein A13	Amlexanox(DB01025)						187.0	184.0	185.0					1																	153591394		2203	4300	6503	SO:0001583	missense	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.chr1:153591394C>G	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.274G>C	1.37:g.153591394C>G	ENSP00000376399:p.Asp92His					S100A14_uc001fce.2_5'Flank|S100A13_uc001fcg.2_Missense_Mutation_p.D92H|S100A13_uc009woh.2_Missense_Mutation_p.D92H|S100A13_uc001fch.2_Missense_Mutation_p.D92H|S100A13_uc001fci.2_Missense_Mutation_p.D92H|S100A13_uc001fcj.2_Missense_Mutation_p.D92H	p.D92H	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	433	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					Q52PI9|Q6FGF8	Missense_Mutation	SNP	ENST00000392623.1	37	c.274G>C	CCDS30874.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427422	0.25726	.	.	ENSG00000189171	ENST00000339556;ENST00000368699;ENST00000440685;ENST00000392623;ENST00000392622	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.04	3.16	0.36331	.	2.089090	0.02396	N	0.080216	T	0.02727	0.0082	.	.	.	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.32322	-0.9911	9	0.40728	T	0.16	-3.3788	6.62	0.22798	0.0:0.791:0.0:0.209	.	92	Q99584	S10AD_HUMAN	H	92	ENSP00000344822:D92H;ENSP00000357688:D92H;ENSP00000392767:D92H;ENSP00000376399:D92H;ENSP00000376398:D92H	ENSP00000344822:D92H	D	-	1	0	S100A13	151858018	0.005000	0.15991	0.602000	0.28890	0.538000	0.34931	0.125000	0.15749	1.112000	0.41740	0.650000	0.86243	GAC		PASS	0.517	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979		33	242	33	242	---	---	---	---
NES	10763	broad.mit.edu	37	1	156641286	156641286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:156641286C>T	ENST00000368223.3	-	4	2826	c.2694G>A	c.(2692-2694)tgG>tgA	p.W898*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	898	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)	p.W898*(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCCAGGTTCCATGCTCCCA	0.468																																						uc001fpq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)	6						c.(2692-2694)TGG>TGA		nestin							68.0	73.0	71.0					1																	156641286		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.chr1:156641286C>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.2694G>A	1.37:g.156641286C>T	ENSP00000357206:p.Trp898*						p.W898*	NM_006617	NP_006608	P48681	NEST_HUMAN			4	2827	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		898	QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Nonsense_Mutation	SNP	ENST00000368223.3	37	c.2694G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	37	6.334136	0.97485	.	.	ENSG00000132688	ENST00000368223	.	.	.	5.16	0.343	0.16001	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0124	0.24869	0.0:0.5489:0.2719:0.1792	.	.	.	.	X	898	.	ENSP00000357206:W898X	W	-	3	0	NES	154907910	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.247000	0.18179	0.163000	0.19507	0.563000	0.77884	TGG		PASS	0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		11	93	11	93	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158226844	158226844	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:158226844C>T	ENST00000289429.5	+	4	1406	c.873C>T	c.(871-873)gtC>gtT	p.V291V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	291	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.V291V(1)		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)	AGGACATCGTCCTCTACTGGG	0.572																																						uc001frt.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(871-873)GTC>GTT		CD1A antigen precursor	Antithymocyte globulin(DB00098)						55.0	53.0	54.0					1																	158226844		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226844C>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.873C>T	1.37:g.158226844C>T							p.V291V	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1406	+	all_hematologic(112;0.0378)		291			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.873C>T	CCDS1174.1																																																																																				PASS	0.572	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		20	61	20	61	---	---	---	---
OR10R2	343406	broad.mit.edu	37	1	158449733	158449734	+	Missense_Mutation	DNP	GG	GG	TT	rs146148080		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:158449733_158449734GG>TT	ENST00000368152.1	+	1	66_67	c.66_67GG>TT	c.(64-69)ttGGca>ttTTca	p.22_23LA>FS	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	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L22_A23>FS(1)|p.A23S(1)|p.L22F(1)		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)					TGCAGATCTTGGCAGAAAACCT	0.421																																						uc010pik.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	pancreas(2)|skin(1)	3						c.(64-66)TTG>TTT|c.(67-69)GCA>TCA		olfactory receptor, family 10, subfamily R,																																				SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449733G>T|g.chr1:158449734G>T	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	Exception_encountered	1.37:g.158449733_158449734delinsTT	ENSP00000357134:p.L22_A23delinsFS					uc001fso.1_RNA	p.L22F|p.A23S	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	66|67	+	all_hematologic(112;0.0378)		22|23			Extracellular (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.66G>T|c.67G>T	CCDS30898.1																																																																																				PASS	0.421	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		42	177|176	42	176	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160323932	160323932	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:160323932G>C	ENST00000294785.5	+	11	1329	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q	NCSTN_ENST00000368065.4_Missense_Mutation_p.E144Q|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.E382Q|NCSTN_ENST00000368063.1_Missense_Mutation_p.E382Q|NCSTN_ENST00000535857.1_Missense_Mutation_p.E264Q	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	402					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|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)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.E402Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCACATTGGAGAAGAGTGG	0.567																																						uc001fvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1204-1206)GAG>CAG		nicastrin precursor							117.0	97.0	104.0					1																	160323932		2203	4300	6503	SO:0001583	missense	23385				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|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160323932G>C	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1204G>C	1.37:g.160323932G>C	ENSP00000294785:p.Glu402Gln					NCSTN_uc001fvy.2_Missense_Mutation_p.E382Q|NCSTN_uc010pjf.1_Missense_Mutation_p.E264Q|NCSTN_uc001fvz.2_Missense_Mutation_p.E182Q|NCSTN_uc010pjg.1_Missense_Mutation_p.E144Q	p.E402Q	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	1328	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		402			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1204G>C	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.804659|1.804659	0.31961|0.31961	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000535857;ENST00000368067;ENST00000392212;ENST00000368065;ENST00000424754|ENST00000424645;ENST00000435149	T;T;T;T|.	0.76968|.	-1.04;-1.06;-0.02;-1.06|.	5.3|5.3	3.15|3.15	0.36227|0.36227	.|.	0.619847|.	0.17578|.	N|.	0.169228|.	T|T	0.15869|0.15869	0.0382|0.0382	N|N	0.12569|0.12569	0.235|0.235	0.37077|0.37077	D|D	0.898823|0.898823	P;B;B|.	0.38677|.	0.642;0.134;0.31|.	B;B;B|.	0.30943|.	0.088;0.029;0.122|.	T|T	0.03695|0.03695	-1.1012|-1.1012	10|5	0.16896|.	T|.	0.51|.	-19.6157|-19.6157	6.3509|6.3509	0.21375|0.21375	0.1351:0.1891:0.6758:0.0|0.1351:0.1891:0.6758:0.0	.|.	264;382;402|.	F6Y097;Q92542-2;Q92542|.	.;.;NICA_HUMAN|.	Q|C	402;382;264;109;382;144;146|237;78	ENSP00000294785:E402Q;ENSP00000357042:E382Q;ENSP00000442605:E264Q;ENSP00000376047:E382Q|.	ENSP00000294785:E402Q|.	E|W	+|+	1|3	0|0	NCSTN|NCSTN	158590556|158590556	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	1.048000|1.048000	0.30379|0.30379	2.499000|2.499000	0.84300|0.84300	0.655000|0.655000	0.94253|0.94253	GAG|TGG		PASS	0.567	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		7	54	7	54	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161141748	161141748	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:161141748C>T	ENST00000319769.5	-	8	1262	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	B4GALT3_ENST00000367998.1_Missense_Mutation_p.R347Q|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	347					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R347Q(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CCGAGGACCCCGAGGGTCAGT	0.607																																						uc001fyq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1039-1041)CGG>CAG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						61.0	69.0	66.0					1																	161141748		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161141748C>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.1040G>A	1.37:g.161141748C>T	ENSP00000320965:p.Arg347Gln					PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.R127Q|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.R347Q|B4GALT3_uc001fys.1_Missense_Mutation_p.R347Q	p.R347Q	NM_003779	NP_003770	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		8	1302	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		347			Lumenal (Potential).		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.1040G>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125150	0.56721	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.51574	0.7;0.7	5.28	4.33	0.51752	.	0.177888	0.51477	D	0.000083	T	0.24851	0.0603	L	0.42245	1.32	0.41335	D	0.987266	B	0.27117	0.168	B	0.15052	0.012	T	0.04855	-1.0922	10	0.33141	T	0.24	.	14.4277	0.67227	0.1474:0.8526:0.0:0.0	.	347	O60512	B4GT3_HUMAN	Q	347;324;347;347	ENSP00000320965:R347Q;ENSP00000356977:R347Q	ENSP00000320965:R347Q	R	-	2	0	B4GALT3	159408372	.	.	1.000000	0.80357	0.998000	0.95712	.	.	2.746000	0.94184	0.655000	0.94253	CGG		PASS	0.607	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		34	70	34	70	---	---	---	---
UHMK1	127933	broad.mit.edu	37	1	162469927	162469927	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:162469927C>T	ENST00000489294.1	+	2	609	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	UHMK1_ENST00000545294.1_Missense_Mutation_p.H77Y|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.H151Y	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	151	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)	p.H151Y(2)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTTCTTCATCATGAGGGCTA	0.433																																						uc001gcc.1																			2	Substitution - Missense(2)		lung(2)		0						c.(451-453)CAT>TAT		kinase interacting stathmin							155.0	135.0	142.0					1																	162469927		2203	4300	6503	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.chr1:162469927C>T	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.451C>T	1.37:g.162469927C>T	ENSP00000420270:p.His151Tyr					UHMK1_uc001gcb.1_Missense_Mutation_p.H77Y|UHMK1_uc009wuu.1_Missense_Mutation_p.H151Y	p.H151Y	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	587	+	all_hematologic(112;0.115)		151			Protein kinase.		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	c.451C>T	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518847	0.44763	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.20200	2.09;2.09;2.09	5.73	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.253184	0.39544	N	0.001333	T	0.08846	0.0219	L	0.35341	1.055	.	.	.	P;P;B	0.36712	0.51;0.566;0.021	B;B;B	0.36418	0.143;0.224;0.037	T	0.07028	-1.0794	9	0.56958	D	0.05	-0.0925	13.2786	0.60202	0.1588:0.8412:0.0:0.0	.	151;151;77	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	Y	77;151;151	ENSP00000441226:H77Y;ENSP00000446416:H151Y;ENSP00000420270:H151Y	ENSP00000420270:H151Y	H	+	1	0	UHMK1	160736551	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.806000	0.27126	1.508000	0.48769	0.655000	0.94253	CAT		PASS	0.433	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866		25	103	25	103	---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818626	166818626	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:166818626C>G	ENST00000367875.1	+	5	1170	c.810C>G	c.(808-810)gtC>gtG	p.V270V	POGK_ENST00000367876.4_Silent_p.V270V|POGK_ENST00000536514.1_Silent_p.V185V|POGK_ENST00000537173.1_Silent_p.V152V			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	270	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V270V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						CCGAATATGTCAGATACATGC	0.572																																					GBM(76;192 1530 30153 48742)	uc001gdt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(808-810)GTC>GTG		pogo transposable element with KRAB domain							38.0	42.0	41.0					1																	166818626		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818626C>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.810C>G	1.37:g.166818626C>G						POGK_uc010ple.1_Silent_p.V185V|POGK_uc010plf.1_Silent_p.V152V	p.V270V	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	930	+			270			HTH CENPB-type.		Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.810C>G	CCDS1254.1																																																																																				PASS	0.572	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		11	77	11	77	---	---	---	---
SUCO	51430	broad.mit.edu	37	1	172526451	172526451	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:172526451G>C	ENST00000263688.3	+	5	694	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	SUCO_ENST00000608151.1_Missense_Mutation_p.A318P|SUCO_ENST00000367723.4_Missense_Mutation_p.A317P|SUCO_ENST00000610051.1_Missense_Mutation_p.A122P	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	159					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)		p.A318P(1)|p.A159P(1)									TATTCCGATAGCCAAACCAAG	0.358																																						uc001giq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(475-477)GCC>CCC		chromosome 1 open reading frame 9 protein							127.0	124.0	125.0					1																	172526451		2203	4300	6503	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172526451G>C	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.475G>C	1.37:g.172526451G>C	ENSP00000263688:p.Ala159Pro					C1orf9_uc010pmm.1_Missense_Mutation_p.A159P|C1orf9_uc009wwd.2_Missense_Mutation_p.A122P|C1orf9_uc010pmn.1_Missense_Mutation_p.A122P|C1orf9_uc010pmo.1_RNA	p.A159P	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	5	791	+		Breast(1374;0.212)	159					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.475G>C	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.868103	0.72065	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.56	4.65	0.58169	.	0.165679	0.41001	D	0.000962	T	0.40171	0.1106	L	0.34521	1.04	0.41829	D	0.990067	B;D;D;P	0.55605	0.38;0.972;0.966;0.916	B;P;P;P	0.55455	0.125;0.776;0.598;0.584	T	0.25012	-1.0144	9	0.27785	T	0.31	1.0E-4	11.9977	0.53212	0.084:0.0:0.916:0.0	.	122;159;318;159	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	P	318;159	.	ENSP00000263688:A159P	A	+	1	0	C1orf9	170793074	1.000000	0.71417	0.982000	0.44146	0.775000	0.43874	3.537000	0.53590	1.352000	0.45808	0.655000	0.94253	GCC		PASS	0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		25	195	25	195	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185269418	185269418	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:185269418C>G	ENST00000367498.3	-	12	1922	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.E216Q|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	434					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)		p.E434Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCATACATCTCTCCACAACTC	0.413																																						uc001grl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1300-1302)GAG>CAG		influenza virus NS1A binding protein							62.0	61.0	62.0					1																	185269418		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.chr1:185269418C>G	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.1300G>C	1.37:g.185269418C>G	ENSP00000356468:p.Glu434Gln					IVNS1ABP_uc001gri.2_Missense_Mutation_p.E94Q|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E94Q|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E216Q|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E94Q	p.E434Q	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			12	1923	-			434			Kelch 2.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1300G>C	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835716	0.91117	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.84370	-1.84;-1.84	5.81	5.81	0.92471	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.95661	0.8715	10	0.87932	D	0	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	216;135;434	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	Q	434;216	ENSP00000356468:E434Q;ENSP00000375864:E216Q	ENSP00000356468:E434Q	E	-	1	0	IVNS1ABP	183536041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.679000	0.84048	2.746000	0.94184	0.591000	0.81541	GAG		PASS	0.413	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		5	49	5	49	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185270191	185270191	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:185270191C>T	ENST00000367498.3	-	10	1655	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.E127K|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	345	Sufficient for AHR interaction and signaling.				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)		p.E345K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCGATTAGCTCATCTTGTTGC	0.438																																						uc001grl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1033-1035)GAG>AAG		influenza virus NS1A binding protein							179.0	161.0	167.0					1																	185270191		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.chr1:185270191C>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.1033G>A	1.37:g.185270191C>T	ENSP00000356468:p.Glu345Lys					IVNS1ABP_uc001gri.2_Missense_Mutation_p.E5K|IVNS1ABP_uc001grj.2_Missense_Mutation_p.E5K|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.E127K|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.E5K	p.E345K	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			10	1656	-			345			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1033G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804728	0.70682	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.10288	2.89;2.89	5.78	5.78	0.91487	Galactose oxidase, beta-propeller (1);	0.185065	0.56097	D	0.000029	T	0.06735	0.0172	N	0.08118	0	0.58432	D	0.999998	B;B;B	0.31383	0.024;0.079;0.321	B;B;B	0.23852	0.037;0.01;0.049	T	0.46762	-0.9168	10	0.19590	T	0.45	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	127;46;345	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	K	345;127	ENSP00000356468:E345K;ENSP00000375864:E127K	ENSP00000356468:E345K	E	-	1	0	IVNS1ABP	183536814	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	4.481000	0.60250	2.724000	0.93272	0.563000	0.77884	GAG		PASS	0.438	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		15	133	15	133	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197019883	197019883	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:197019883C>A	ENST00000367412.1	-	10	1725	c.1682G>T	c.(1681-1683)gGa>gTa	p.G561V	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	561	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.G561V(1)		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						CTCCCTAGATCCTTCTAGGAA	0.353																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1681-1683)GGA>GTA		coagulation factor XIII B subunit precursor							92.0	92.0	92.0					1																	197019883		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197019883C>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.1682G>T	1.37:g.197019883C>A	ENSP00000356382:p.Gly561Val						p.G561V	NM_001994	NP_001985	P05160	F13B_HUMAN			10	1726	-			561			Sushi 9.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1682G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291995	0.80914	.	.	ENSG00000143278	ENST00000367412	T	0.73258	-0.73	5.68	5.68	0.88126	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33327	N	0.005040	D	0.91422	0.7293	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94389	0.7612	10	0.72032	D	0.01	.	19.7908	0.96456	0.0:1.0:0.0:0.0	.	561	P05160	F13B_HUMAN	V	561	ENSP00000356382:G561V	ENSP00000356382:G561V	G	-	2	0	F13B	195286506	0.999000	0.42202	0.864000	0.33941	0.959000	0.62525	5.037000	0.64170	2.682000	0.91365	0.591000	0.81541	GGA		PASS	0.353	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		23	71	23	71	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390763	197390763	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:197390763A>T	ENST00000367400.3	+	6	1940	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V	CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.D602V|CRB1_ENST00000367399.2_Missense_Mutation_p.D490V|CRB1_ENST00000535699.1_Missense_Mutation_p.D533V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.D83V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	602	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.D602V(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						CTTGAAAGTGATCAATCAATA	0.438																																						uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1804-1806)GAT>GTT		crumbs homolog 1 precursor							122.0	114.0	117.0					1																	197390763		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.chr1:197390763A>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.1805A>T	1.37:g.197390763A>T	ENSP00000356370:p.Asp602Val					CRB1_uc010poz.1_Missense_Mutation_p.D533V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.D490V|CRB1_uc010ppb.1_Missense_Mutation_p.D602V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D83V|CRB1_uc001gub.1_Missense_Mutation_p.D251V	p.D602V	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1940	+			602			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1805A>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	3.901	-0.022014	0.07634	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.96	1.0	0.19881	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.78432	0.4282	M	0.66939	2.045	0.09310	N	1	P;D;P;B;P	0.54601	0.867;0.967;0.893;0.178;0.952	B;P;B;B;P	0.52424	0.425;0.491;0.44;0.086;0.698	T	0.65619	-0.6124	9	0.41790	T	0.15	.	5.586	0.17275	0.5634:0.2447:0.1918:0.0	.	602;533;490;251;602	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	V	533;602;602;490;83;251	ENSP00000438786:D533V;ENSP00000438091:D602V;ENSP00000356370:D602V;ENSP00000356369:D490V;ENSP00000444556:D83V	ENSP00000356369:D490V	D	+	2	0	CRB1	195657386	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.420000	0.21263	-0.070000	0.12908	-0.297000	0.09499	GAT		PASS	0.438	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		55	132	55	132	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197479678	197479678	+	IGR	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:197479678T>C								CRB1 (32093 upstream) : DENND1B (41706 downstream)														p.H387R(1)|p.H311R(1)									CACTACTTCATGGAGCAGTCC	0.408																																						uc010ppe.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2179-2181)CAT>CGT		DENN/MADD domain containing 1B isoform 1							122.0	113.0	116.0					1																	197479678		2203	4299	6502	SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197479678T>C																													1.37:g.197479678T>C						DENND1B_uc010ppf.1_RNA	p.H727R	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2518	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Missense_Mutation	SNP		37	c.2180A>G		.	.	.	.	.	.	.	.	.	.	T	9.580	1.123377	0.20959	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.30714	1.52	5.43	4.29	0.51040	.	0.520863	0.16133	U	0.228120	T	0.25306	0.0615	L	0.34521	1.04	0.80722	D	1	B	0.20988	0.05	B	0.21917	0.037	T	0.03051	-1.1078	10	0.46703	T	0.11	.	11.5894	0.50938	0.0:0.0:0.1491:0.8509	.	747	Q6P3S1-5	.	R	387;747;727	ENSP00000375839:H387R	ENSP00000375839:H387R	H	-	2	0	DENND1B	195746301	0.997000	0.39634	0.957000	0.39632	0.021000	0.10359	2.203000	0.42752	0.974000	0.38366	0.460000	0.39030	CAT	0	PASS	0.408									37	69	37	69	---	---	---	---
CAMSAP2	23271	broad.mit.edu	37	1	200822482	200822482	+	Missense_Mutation	SNP	C	C	T	rs199622691		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:200822482C>T	ENST00000236925.4	+	14	3764	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R1228W|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R1212W			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1239					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)	p.R1228W(1)									ATATATGAGGCGGAAACAACT	0.368																																						uc001gvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3715-3717)CGG>TGG		calmodulin regulated spectrin-associated protein							98.0	104.0	102.0					1																	200822482		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200822482C>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.3715C>T	1.37:g.200822482C>T	ENSP00000236925:p.Arg1239Trp					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.R1228W|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.R1212W	p.R1239W	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			14	3985	+			1239					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3715C>T		.	.	.	.	.	.	.	.	.	.	C	19.11	3.763357	0.69763	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.28895	1.59;1.62;1.61	5.36	2.14	0.27477	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	M	0.76170	2.325	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	T	0.63019	-0.6730	10	0.87932	D	0	-14.2187	15.3763	0.74607	0.5144:0.4856:0.0:0.0	.	1212;1239;1228	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	W	1228;1212;1239	ENSP00000351684:R1228W;ENSP00000416800:R1212W;ENSP00000236925:R1239W	ENSP00000236925:R1239W	R	+	1	2	CAMSAP1L1	199089105	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	1.514000	0.35834	0.673000	0.31224	0.655000	0.94253	CGG		PASS	0.368	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		4	88	4	88	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464542	202464542	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:202464542C>T	ENST00000608999.1	+	16	2420	c.2267C>T	c.(2266-2268)tCa>tTa	p.S756L	PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S756L|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	756					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.S756L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AATAGATTTTCAGTCCCTGAT	0.478																																						uc001gya.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2266-2268)TCA>TTA		protein phosphatase 1, regulatory (inhibitor)							89.0	87.0	88.0					1																	202464542		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202464542C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2267C>T	1.37:g.202464542C>T	ENSP00000476755:p.Ser756Leu					PPP1R12B_uc001gxz.1_Missense_Mutation_p.S756L|PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	p.S756L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		16	2411	+			756					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2267C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555275	0.27739	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.03124	4.04;4.04	5.77	4.86	0.63082	.	0.297116	0.25275	N	0.031848	T	0.04363	0.0120	L	0.39020	1.185	0.80722	D	1	B;B	0.16802	0.002;0.019	B;B	0.15484	0.003;0.013	T	0.41270	-0.9518	10	0.41790	T	0.15	.	12.3982	0.55397	0.0:0.9208:0.0:0.0792	.	756;756	O60237;F8W8M3	MYPT2_HUMAN;.	L	756	ENSP00000384496:S756L;ENSP00000337897:S756L	ENSP00000337897:S756L	S	+	2	0	PPP1R12B	200731165	0.020000	0.18652	0.024000	0.17045	0.014000	0.08584	2.066000	0.41452	1.582000	0.49881	-0.140000	0.14226	TCA		PASS	0.478	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		8	114	8	114	---	---	---	---
PPP1R12B	4660	broad.mit.edu	37	1	202464554	202464554	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:202464554C>A	ENST00000608999.1	+	16	2432	c.2279C>A	c.(2278-2280)tCt>tAt	p.S760Y	PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S760Y|PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	760					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.S760Y(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCCCTGATTCTGAGAGTTCA	0.468																																						uc001gya.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2278-2280)TCT>TAT		protein phosphatase 1, regulatory (inhibitor)							91.0	86.0	87.0					1																	202464554		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202464554C>A	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2279C>A	1.37:g.202464554C>A	ENSP00000476755:p.Ser760Tyr					PPP1R12B_uc001gxz.1_Missense_Mutation_p.S760Y|PPP1R12B_uc001gyb.1_Translation_Start_Site|PPP1R12B_uc001gyc.1_Translation_Start_Site	p.S760Y	NM_002481	NP_002472	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		16	2423	+			760					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2279C>A	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155982	0.38021	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.03181	4.02;4.02	5.64	4.73	0.59995	.	0.304274	0.28877	N	0.013860	T	0.11965	0.0291	M	0.74881	2.28	0.47778	D	0.999511	P;P	0.46706	0.612;0.883	B;P	0.53360	0.347;0.724	T	0.00356	-1.1793	10	0.66056	D	0.02	.	11.0013	0.47607	0.0:0.9133:0.0:0.0867	.	760;760	O60237;F8W8M3	MYPT2_HUMAN;.	Y	760	ENSP00000384496:S760Y;ENSP00000337897:S760Y	ENSP00000337897:S760Y	S	+	2	0	PPP1R12B	200731177	0.386000	0.25180	0.012000	0.15200	0.699000	0.40488	3.235000	0.51328	1.532000	0.49169	0.650000	0.86243	TCT		PASS	0.468	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		9	101	9	101	---	---	---	---
SRGAP2	23380	broad.mit.edu	37	1	206566940	206566940	+	Missense_Mutation	SNP	C	C	G	rs201863883		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:206566940C>G	ENST00000414007.1	+	3	321	c.321C>G	c.(319-321)atC>atG	p.I107M	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	247	F-BAR domain.				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)	p.I107M(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAAGGCCATCAAAGCCCGGA	0.423																																						uc001hdy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)ATC>ATG		SLIT-ROBO Rho GTPase activating protein 2							121.0	105.0	110.0					1																	206566940		1963	4160	6123	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566940C>G	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.321C>G	1.37:g.206566940C>G	ENSP00000390898:p.Ile107Met					SRGAP2_uc009xbt.2_Missense_Mutation_p.I84M|SRGAP2_uc010prt.1_Missense_Mutation_p.I84M|SRGAP2_uc001hdx.2_Missense_Mutation_p.I160M|SRGAP2_uc010pru.1_Missense_Mutation_p.I84M|SRGAP2_uc010prv.1_Missense_Mutation_p.I84M	p.I160M	NM_015326	NP_056141	O75044	FNBP2_HUMAN			4	813	+	Breast(84;0.137)		247						Missense_Mutation	SNP	ENST00000414007.1	37	c.480C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.412440|2.412440	0.42817|0.42817	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000414359;ENST00000414007|ENST00000295713	T|.	0.14144|.	2.53|.	5.73|5.73	0.369|0.369	0.16151|0.16151	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29749|0.29749	0.0743|0.0743	.|.	.|.	.|.	0.31640|.	N|.	0.64811|.	P;B;B|.	0.51933|.	0.949;0.435;0.248|.	B;B;B|.	0.43331|.	0.416;0.109;0.091|.	T|T	0.33777|0.33777	-0.9855|-0.9855	8|3	0.33940|.	T|.	0.23|.	.|.	3.962|3.962	0.09415|0.09415	0.3237:0.1935:0.0:0.4828|0.3237:0.1935:0.0:0.4828	.|.	94;247;247|.	B4DDU0;O75044;B7Z3G4|.	.;FNBP2_HUMAN;.|.	M|E	161;107|161	ENSP00000390898:I107M|.	ENSP00000390898:I107M|.	I|Q	+|+	3|1	3|0	SRGAP2|SRGAP2	204633563|204633563	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.466000|0.466000	0.22019|0.22019	0.100000|0.100000	0.17581|0.17581	-0.474000|-0.474000	0.04947|0.04947	ATC|CAA		PASS	0.423	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		3	81	3	81	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209791921	209791921	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:209791921G>A	ENST00000356082.4	-	19	2919	c.2785C>T	c.(2785-2787)Ctg>Ttg	p.L929L	LAMB3_ENST00000367030.3_Silent_p.L929L|LAMB3_ENST00000391911.1_Silent_p.L929L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	929	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)	p.L929L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATCTTCTGCAGAACAGTAGCT	0.607																																						uc001hhg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2785-2787)CTG>TTG		laminin, beta 3 precursor							98.0	91.0	94.0					1																	209791921		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791921G>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.2785C>T	1.37:g.209791921G>A						LAMB3_uc009xco.2_Silent_p.L929L|LAMB3_uc001hhh.2_Silent_p.L929L	p.L929L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	18	3175	-			929			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.2785C>T	CCDS1487.1																																																																																				PASS	0.607	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		11	85	11	85	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215822039	215822039	+	Missense_Mutation	SNP	C	C	T	rs147532612		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:215822039C>T	ENST00000307340.3	-	66	14799	c.14413G>A	c.(14413-14415)Gta>Ata	p.V4805I	USH2A_ENST00000366943.2_Missense_Mutation_p.V4805I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4805	Fibronectin type-III 33. {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.V4805I(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)		CAGGCCTCTACTCCAATAGAG	0.542										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		19244	0.0		0.001	False		,,,				2504	0.0					uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14413-14415)GTA>ATA		usherin isoform B		C	ILE/VAL	0,4406		0,0,2203	88.0	76.0	80.0		14413	3.8	0.1	1	dbSNP_134	80	2,8598	2.2+/-6.3	0,2,4298	yes	missense	USH2A	NM_206933.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	4805/5203	215822039	2,13004	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.chr1:215822039C>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.14413G>A	1.37:g.215822039C>T	ENSP00000305941:p.Val4805Ile	HNSCC(13;0.011)					p.V4805I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14800	-			4805			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14413G>A	CCDS31025.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.49	2.848323	0.51164	0.0	2.33E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.64803	-0.12;-0.12	5.63	3.75	0.43078	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39341	N	0.001388	T	0.49795	0.1578	L	0.38531	1.155	0.31703	N	0.640537	B	0.15930	0.015	B	0.17433	0.018	T	0.50709	-0.8796	10	0.24483	T	0.36	.	11.5921	0.50951	0.0:0.8079:0.1248:0.0673	.	4805	O75445	USH2A_HUMAN	I	4805	ENSP00000305941:V4805I;ENSP00000355910:V4805I	ENSP00000305941:V4805I	V	-	1	0	USH2A	213888662	0.864000	0.29904	0.072000	0.20136	0.953000	0.61014	2.019000	0.41001	0.725000	0.32318	0.655000	0.94253	GTA		PASS	0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		30	56	30	56	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373226	216373226	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:216373226G>T	ENST00000307340.3	-	17	3940	c.3554C>A	c.(3553-3555)tCc>tAc	p.S1185Y	USH2A_ENST00000366943.2_Missense_Mutation_p.S1185Y|USH2A_ENST00000366942.3_Missense_Mutation_p.S1185Y|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1185	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1185Y(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)		AGGGGCACAGGACAAAATATA	0.428										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3553-3555)TCC>TAC		usherin isoform B							104.0	110.0	108.0					1																	216373226		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.chr1:216373226G>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.3554C>A	1.37:g.216373226G>T	ENSP00000305941:p.Ser1185Tyr	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.S1185Y	p.S1185Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	17	3941	-			1185			Extracellular (Potential).|Fibronectin type-III 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3554C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469608	0.63625	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.57752	0.38;0.38;0.38	6.02	5.09	0.68999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.183647	0.26669	N	0.023117	T	0.67135	0.2861	L	0.50333	1.59	0.40679	D	0.982286	D;D	0.89917	0.998;1.0	D;D	0.72982	0.929;0.979	T	0.66889	-0.5809	10	0.36615	T	0.2	.	17.0995	0.86645	0.0:0.1267:0.8733:0.0	.	1185;1185	O75445-2;O75445	.;USH2A_HUMAN	Y	1185	ENSP00000305941:S1185Y;ENSP00000355910:S1185Y;ENSP00000355909:S1185Y	ENSP00000305941:S1185Y	S	-	2	0	USH2A	214439849	1.000000	0.71417	0.922000	0.36590	0.778000	0.44026	3.644000	0.54381	1.500000	0.48636	0.655000	0.94253	TCC		PASS	0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		49	169	49	169	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217665061	217665061	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:217665061C>G	ENST00000366935.3	-	8	1348	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	RP11-361K17.2_ENST00000458184.1_RNA|GPATCH2_ENST00000489246.2_5'UTR	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	413					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.R413T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTGTGTCCTCTTTCAGCTCG	0.313																																						uc001hlf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1237-1239)AGA>ACA		G patch domain containing 2							102.0	103.0	103.0					1																	217665061		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217665061C>G	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1238G>C	1.37:g.217665061C>G	ENSP00000355902:p.Arg413Thr					GPATCH2_uc009xdq.1_RNA	p.R413T	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	8	1334	-			413					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1238G>C	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472376	0.84533	.	.	ENSG00000092978	ENST00000366935	T	0.36699	1.24	6.03	6.03	0.97812	.	0.045726	0.85682	D	0.000000	T	0.40398	0.1115	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.53954	0.738	T	0.03000	-1.1084	10	0.14252	T	0.57	.	17.2761	0.87115	0.0:1.0:0.0:0.0	.	413	Q9NW75	GPTC2_HUMAN	T	413	ENSP00000355902:R413T	ENSP00000355902:R413T	R	-	2	0	GPATCH2	215731684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.902000	0.63266	2.861000	0.98227	0.655000	0.94253	AGA		PASS	0.313	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		18	97	18	97	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222802391	222802391	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:222802391C>T	ENST00000344922.5	+	4	1854	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	MIA3_ENST00000344441.6_Missense_Mutation_p.S610L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	610					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.S610L(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)		CACACGCTTTCAGTGGAGCAT	0.478																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1828-1830)TCA>TTA		melanoma inhibitory activity family, member 3							94.0	98.0	97.0					1																	222802391		2004	4170	6174	SO:0001583	missense	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.chr1:222802391C>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.1829C>T	1.37:g.222802391C>T	ENSP00000340900:p.Ser610Leu					MIA3_uc009xea.1_Missense_Mutation_p.S446L	p.S610L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1838	+			610			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1829C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607707	0.28623	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.04917	3.53;3.53	4.64	1.61	0.23674	.	.	.	.	.	T	0.06508	0.0167	L	0.48642	1.525	0.09310	N	1	B;P	0.34522	0.253;0.455	B;B	0.34991	0.059;0.193	T	0.33828	-0.9853	9	0.72032	D	0.01	.	4.5867	0.12285	0.1531:0.586:0.0:0.2609	.	610;610	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	L	610	ENSP00000340900:S610L;ENSP00000340587:S610L	ENSP00000325973:S610L	S	+	2	0	MIA3	220869014	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.784000	0.26816	0.111000	0.17947	-0.704000	0.03662	TCA		PASS	0.478	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		18	163	18	163	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223177892	223177893	+	Missense_Mutation	DNP	CT	CT	AG	rs111796312	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:223177892_223177893CT>AG	ENST00000284476.6	+	8	3317_3318	c.3153_3154CT>AG	c.(3151-3156)gaCTtt>gaAGtt	p.1051_1052DF>EV		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1051					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.F1052V(1)|p.D1051_F1052>EV(1)|p.D1051E(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)		TGTCTGTAGACTTTGCCGTCCA	0.54																																						uc001hnu.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(3151-3153)GAC>GAA|c.(3154-3156)TTT>GTT		dispatched A																																				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.chr1:223177892C>A|g.chr1:223177893T>G	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	Exception_encountered	1.37:g.223177892_223177893delinsAG	ENSP00000284476:p.D1051_F1052delinsEV						p.D1051E|p.F1052V	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3300|3301	+			1051|1052			Helical; (Potential).		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.3153C>A|c.3154T>G	CCDS1536.1																																																																																				PASS	0.540	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		63|62	128|129	62	128	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225600282	225600282	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:225600282G>A	ENST00000338179.2	-	8	1083	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	LBR_ENST00000272163.4_Missense_Mutation_p.H320Y|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	320					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)	p.H320Y(1)		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)		TACACGTAATGAAACTCTACG	0.408																																						uc001hoy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(958-960)CAT>TAT		lamin B receptor							79.0	80.0	79.0					1																	225600282		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.chr1:225600282G>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.958C>T	1.37:g.225600282G>A	ENSP00000339883:p.His320Tyr					LBR_uc001hoz.2_Missense_Mutation_p.H320Y|LBR_uc001hpa.1_Missense_Mutation_p.H320Y	p.H320Y	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	8	1101	-	Breast(184;0.165)		320					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.958C>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	1.087	-0.665280	0.03428	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97924	-4.61;-4.61	6.07	-9.37	0.00626	.	1.680490	0.02408	N	0.081343	D	0.84647	0.5518	N	0.00746	-1.225	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84625	0.0686	10	0.02654	T	1	3.4658	3.5269	0.07762	0.1833:0.219:0.4176:0.18	.	320	Q14739	LBR_HUMAN	Y	320	ENSP00000272163:H320Y;ENSP00000339883:H320Y	ENSP00000272163:H320Y	H	-	1	0	LBR	223666905	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.280000	0.08468	-1.609000	0.01585	-1.087000	0.02190	CAT		PASS	0.408	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		15	84	15	84	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226175869	226175869	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:226175869C>G	ENST00000272091.7	-	6	880	c.862G>C	c.(862-864)Gac>Cac	p.D288H		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	288								p.D276H(1)|p.D288H(1)									CTCCCAGAGTCAGTCACCGGG	0.507																																						uc001hpu.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(862-864)GAC>CAC		hypothetical protein LOC163859							171.0	161.0	164.0					1																	226175869		1942	4145	6087	SO:0001583	missense	163859							g.chr1:226175869C>G	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.862G>C	1.37:g.226175869C>G	ENSP00000272091:p.Asp288His					C1orf55_uc001hpv.2_Missense_Mutation_p.D288H	p.D288H	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			6	915	-	Breast(184;0.197)		288					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.862G>C	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601439	0.46423	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.47528	0.89;0.84	6.05	3.88	0.44766	.	1.017230	0.07798	N	0.956039	T	0.52500	0.1738	L	0.51422	1.61	0.09310	N	1	D;D	0.61080	0.989;0.98	P;B	0.50934	0.654;0.358	T	0.40021	-0.9585	10	0.59425	D	0.04	-3.2483	9.426	0.38581	0.0:0.7286:0.123:0.1484	.	276;288	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	H	288;276;193	ENSP00000272091:D288H;ENSP00000355782:D193H	ENSP00000272091:D288H	D	-	1	0	C1orf55	224242492	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.500000	0.22562	1.581000	0.49865	-0.142000	0.14014	GAC		PASS	0.507	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		24	211	24	211	---	---	---	---
MRPL55	128308	broad.mit.edu	37	1	228295503	228295503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:228295503G>A	ENST00000411464.2	-	4	887	c.94C>T	c.(94-96)Cga>Tga	p.R32*	MRPL55_ENST00000348259.5_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366747.3_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366746.3_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366739.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366734.1_Nonsense_Mutation_p.R32*|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366732.1_Nonsense_Mutation_p.R29*|MRPL55_ENST00000366741.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366740.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366731.5_Nonsense_Mutation_p.R68*|MRPL55_ENST00000366742.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000430433.1_Nonsense_Mutation_p.R68*|MRPL55_ENST00000366738.1_Nonsense_Mutation_p.R68*|MRPL55_ENST00000391867.3_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366736.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000336520.3_Nonsense_Mutation_p.R32*|MRPL55_ENST00000295008.4_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366735.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000336300.5_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366744.1_Nonsense_Mutation_p.R32*|MRPL55_ENST00000366733.1_Nonsense_Mutation_p.R32*			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	32					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)	p.R68*(1)|p.R32*(1)		central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCAGCTCGCCAGGAGGAT	0.627																																						uc001hry.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(94-96)CGA>TGA		mitochondrial ribosomal protein L55 isoform a							74.0	62.0	66.0					1																	228295503		2202	4300	6502	SO:0001587	stop_gained	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228295503G>A	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.94C>T	1.37:g.228295503G>A	ENSP00000401737:p.Arg32*					MRPL55_uc001hrz.3_Nonsense_Mutation_p.R68*|MRPL55_uc009xex.2_Nonsense_Mutation_p.R32*|MRPL55_uc001hsa.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsb.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsc.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsd.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hse.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsf.3_Nonsense_Mutation_p.R32*|MRPL55_uc001hsg.3_Nonsense_Mutation_p.R32*	p.R32*	NM_181465	NP_852130	Q7Z7F7	RM55_HUMAN			2	838	-		Prostate(94;0.0405)	32					Q5TBY3|Q5TBY6|Q6UWI8	Nonsense_Mutation	SNP	ENST00000411464.2	37	c.94C>T	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532663	0.27387	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464;ENST00000457264	.	.	.	4.88	-9.76	0.00503	.	2.902540	0.01463	N	0.015978	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.173	8.9836	0.35980	0.0877:0.0:0.5692:0.3431	.	.	.	.	X	29;32;32;32;32;68;32;32;32;32;32;32;32;32;32;32;32;68;32;68;32;32	.	ENSP00000295008:R32X	R	-	1	2	MRPL55	226362126	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.151000	0.10175	-2.786000	0.00358	-0.312000	0.09012	CGA		PASS	0.627	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		17	65	17	65	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228400408	228400408	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:228400408C>G	ENST00000422127.1	+	2	968	c.924C>G	c.(922-924)ctC>ctG	p.L308L	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.L308L|OBSCN_ENST00000284548.11_Silent_p.L308L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	308	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)	p.L308L(4)		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)				ACCGCGGCCTCTACACCTGCA	0.682																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(922-924)CTC>CTG		obscurin, cytoskeletal calmodulin and							24.0	28.0	27.0					1																	228400408		2065	4191	6256	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.chr1:228400408C>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.924C>G	1.37:g.228400408C>G						OBSCN_uc001hsn.2_Silent_p.L308L|uc001hsm.1_RNA	p.L308L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			2	968	+		Prostate(94;0.0405)	308			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.924C>G	CCDS58065.1																																																																																				PASS	0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	38	4	38	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229567525	229567525	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:229567525G>A	ENST00000366684.3	-	6	1035	c.933C>T	c.(931-933)atC>atT	p.I311I	ACTA1_ENST00000366683.2_Silent_p.I223I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	311					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.I311I(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGCGGTCAGCGATCCCAGGGT	0.602																																						uc001htm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)ATC>ATT		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						144.0	127.0	132.0					1																	229567525		2203	4300	6503	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.chr1:229567525G>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.933C>T	1.37:g.229567525G>A							p.I311I	NM_001100	NP_001091	P68133	ACTS_HUMAN			6	1038	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	311					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.933C>T	CCDS1578.1																																																																																				PASS	0.602	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		14	114	14	114	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230795272	230795272	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:230795272G>A	ENST00000366669.4	+	2	250	c.135G>A	c.(133-135)ctG>ctA	p.L45L	COG2_ENST00000366668.3_Silent_p.L45L|COG2_ENST00000535166.1_5'UTR|COG2_ENST00000534989.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	45					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.L45L(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)				TGGAAGAACTGAGAGATGACC	0.383																																						uc001htw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)CTG>CTA		component of oligomeric golgi complex 2 isoform							110.0	114.0	113.0					1																	230795272		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.chr1:230795272G>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.135G>A	1.37:g.230795272G>A						COG2_uc001htx.2_Silent_p.L45L|COG2_uc010pwc.1_5'UTR	p.L45L	NM_007357	NP_031383	Q14746	COG2_HUMAN			2	286	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	45					Q86U99	Silent	SNP	ENST00000366669.4	37	c.135G>A	CCDS1584.1																																																																																				PASS	0.383	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		11	148	11	148	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	G	C	rs202017607		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:232551265G>C	ENST00000366630.1	-	18	5095	c.4737C>G	c.(4735-4737)ctC>ctG	p.L1579L	SIPA1L2_ENST00000262861.4_Silent_p.L1579L|SIPA1L2_ENST00000308942.4_Silent_p.L653L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.L1579L(2)		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)				CAGCATCCACGAGGTGGGTCC	0.582																																						uc001hvg.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(4735-4737)CTC>CTG		signal-induced proliferation-associated 1 like		G		0,3920		0,0,1960	93.0	106.0	102.0		4737	-11.2	0.3	1		102	5,8325		0,5,4160	no	coding-synonymous	SIPA1L2	NM_020808.3		0,5,6120	CC,CG,GG		0.06,0.0,0.0408		1579/1723	232551265	5,12245	1960	4165	6125	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232551265G>C	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.4737C>G	1.37:g.232551265G>C						SIPA1L2_uc001hvf.2_Silent_p.L653L	p.L1579L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			17	4895	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1579					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.4737C>G	CCDS41474.1																																																																																				PASS	0.582	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		21	96	21	96	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234569206	234569206	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:234569206G>C	ENST00000040877.1	-	14	2343	c.2344C>G	c.(2344-2346)Ctt>Gtt	p.L782V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	782					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)	p.L782V(2)		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)			TTTTTCAAAAGAGAAATAACT	0.398																																						uc001hwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2344-2346)CTT>GTT		TAR RNA binding protein 1							132.0	127.0	129.0					1																	234569206		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569206G>C		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.2344C>G	1.37:g.234569206G>C	ENSP00000040877:p.Leu782Val						p.L782V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		14	2344	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	782					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2344C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217477	0.09810	.	.	ENSG00000059588	ENST00000040877	T	0.05717	3.4	5.68	3.81	0.43845	.	0.627390	0.17997	N	0.155002	T	0.05227	0.0139	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34354	-0.9832	10	0.48119	T	0.1	-8.7507	6.8592	0.24058	0.3859:0.0:0.6141:0.0	.	782	Q13395	TARB1_HUMAN	V	782	ENSP00000040877:L782V	ENSP00000040877:L782V	L	-	1	0	TARBP1	232635829	0.997000	0.39634	0.824000	0.32777	0.973000	0.67179	1.545000	0.36169	0.751000	0.32900	0.655000	0.94253	CTT		PASS	0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		17	110	17	110	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Missense_Mutation	SNP	C	C	G	rs374418643		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:237806719C>G	ENST00000366574.2	+	48	7631	c.7314C>G	c.(7312-7314)atC>atG	p.I2438M	RYR2_ENST00000542537.1_Missense_Mutation_p.I2422M|RYR2_ENST00000360064.6_Missense_Mutation_p.I2436M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2438	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.I2436M(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)			TTATCAGCATCGCTTTTCAGA	0.438																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7312-7314)ATC>ATG		cardiac muscle ryanodine receptor							169.0	159.0	162.0					1																	237806719		1903	4127	6030	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.chr1:237806719C>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.7314C>G	1.37:g.237806719C>G	ENSP00000355533:p.Ile2438Met						p.I2438M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7434	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2438			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7314C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119651	0.56613	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.12;-4.12	5.4	-6.65	0.01795	.	0.000000	0.64402	D	0.000005	D	0.95277	0.8468	L	0.54323	1.7	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	D	0.92066	0.5660	10	0.72032	D	0.01	.	6.7088	0.23266	0.0891:0.1713:0.0889:0.6506	.	2438	Q92736	RYR2_HUMAN	M	2438;2436;2422	ENSP00000355533:I2438M;ENSP00000353174:I2436M;ENSP00000443798:I2422M	ENSP00000353174:I2436M	I	+	3	3	RYR2	235873342	0.060000	0.20803	0.831000	0.32960	0.689000	0.40095	-0.667000	0.05274	-1.274000	0.02421	0.655000	0.94253	ATC		PASS	0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	130	27	130	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246811316	246811316	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:246811316G>C	ENST00000366513.4	+	9	2082	c.1813G>C	c.(1813-1815)Gcc>Ccc	p.A605P	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A605P	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	605					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.A605P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGATGATCTTGCCAAAAGGAT	0.368																																						uc001ibp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1813-1815)GCC>CCC		hypothetical protein LOC163882 isoform 1							73.0	77.0	75.0					1																	246811316		2202	4298	6500	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246811316G>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1813G>C	1.37:g.246811316G>C	ENSP00000355470:p.Ala605Pro					CNST_uc001ibo.3_Missense_Mutation_p.A605P	p.A605P	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	2191	+			605					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1813G>C	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488264	0.84854	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.37235	1.61;1.21	5.78	5.78	0.91487	.	0.070366	0.64402	D	0.000015	T	0.62011	0.2393	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.63773	-0.6561	10	0.72032	D	0.01	-11.3808	15.4729	0.75453	0.0681:0.0:0.9319:0.0	.	605;605	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	P	605	ENSP00000355470:A605P;ENSP00000355469:A605P	ENSP00000355469:A605P	A	+	1	0	CNST	244877939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.682000	0.61671	2.894000	0.99253	0.591000	0.81541	GCC		PASS	0.368	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		7	160	7	160	---	---	---	---
OR2B11	127623	broad.mit.edu	37	1	247615256	247615256	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:247615256C>A	ENST00000318749.6	-	1	52	c.29G>T	c.(28-30)gGg>gTg	p.G10V		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G10V(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAGTCCCCTAAGAAGCT	0.483																																						uc010pyx.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(28-30)GGG>GTG		olfactory receptor, family 2, subfamily B,							108.0	121.0	117.0					1																	247615256		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615256C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.29G>T	1.37:g.247615256C>A	ENSP00000325682:p.Gly10Val						p.G10V	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	29	-	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)	10			Extracellular (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.29G>T	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125507	0.06795	.	.	ENSG00000177535	ENST00000318749	T	0.36520	1.25	4.81	0.738	0.18319	.	0.568803	0.14634	N	0.307625	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.34372	0.451	B	0.30029	0.11	T	0.13229	-1.0517	10	0.66056	D	0.02	.	3.951	0.09369	0.0:0.5255:0.1786:0.2959	.	10	Q5JQS5	OR2BB_HUMAN	V	10	ENSP00000325682:G10V	ENSP00000325682:G10V	G	-	2	0	OR2B11	245681879	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.432000	0.06956	0.046000	0.15833	0.544000	0.68410	GGG		PASS	0.483	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		39	81	39	81	---	---	---	---
GCSAML	148823	broad.mit.edu	37	1	247737523	247737523	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:247737523A>G	ENST00000366488.4	+	5	351	c.247A>G	c.(247-249)Agc>Ggc	p.S83G	GCSAML_ENST00000366489.1_Missense_Mutation_p.S63G|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.S51G|GCSAML_ENST00000527084.1_Missense_Mutation_p.S51G|GCSAML_ENST00000366491.2_Missense_Mutation_p.S63G|GCSAML_ENST00000463359.1_Missense_Mutation_p.S51G|GCSAML_ENST00000536561.1_Missense_Mutation_p.S63G	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	83								p.S83G(1)									ATCCTCCCTGAGCTCCAATGA	0.453																																						uc001idf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AGC>GGC		hypothetical protein LOC148823							138.0	123.0	128.0					1																	247737523		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737523A>G	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.247A>G	1.37:g.247737523A>G	ENSP00000355444:p.Ser83Gly					C1orf150_uc009xgw.2_RNA|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_RNA	p.S83G	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		5	292	+	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)		83					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.247A>G	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.327821	0.24080	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000529512;ENST00000366488;ENST00000536561	.	.	.	3.91	2.77	0.32553	.	0.864850	0.09793	N	0.755152	T	0.37100	0.0991	L	0.57536	1.79	0.09310	N	1	B	0.32101	0.356	B	0.30401	0.115	T	0.31503	-0.9941	9	0.49607	T	0.09	-1.6794	5.8863	0.18884	0.8787:0.0:0.1213:0.0	.	83	Q5JQS6	CA150_HUMAN	G	51;51;63;63;51;51;83;63	.	ENSP00000355444:S83G	S	+	1	0	C1orf150	245804146	0.090000	0.21635	0.057000	0.19452	0.196000	0.23810	1.124000	0.31320	0.681000	0.31386	0.482000	0.46254	AGC		PASS	0.453	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		19	113	19	113	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004481	248004481	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:248004481T>A	ENST00000355784.2	-	1	773	c.718A>T	c.(718-720)Aca>Tca	p.T240S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	240						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.T240S(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)			GAGCCACATGTGGAAAAGGTC	0.493																																						uc001idn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(718-720)ACA>TCA		olfactory receptor, family 11, subfamily L,							103.0	103.0	103.0					1																	248004481		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004481T>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.718A>T	1.37:g.248004481T>A	ENSP00000348033:p.Thr240Ser						p.T240S	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	718	-	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)		240			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.718A>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939951	0.52972	.	.	ENSG00000197591	ENST00000355784	T	0.40476	1.03	4.42	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35436	U	0.003217	T	0.67126	0.2860	M	0.90198	3.095	0.28946	N	0.89072	D	0.89917	1.0	D	0.97110	1.0	T	0.65199	-0.6226	10	0.87932	D	0	.	9.7265	0.40335	0.0:0.0837:0.0:0.9163	.	240	Q8NGX0	O11L1_HUMAN	S	240	ENSP00000348033:T240S	ENSP00000348033:T240S	T	-	1	0	OR11L1	246071104	1.000000	0.71417	0.150000	0.22450	0.566000	0.35808	5.293000	0.65680	0.856000	0.35383	0.443000	0.29094	ACA		PASS	0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		27	67	27	67	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248039238	248039238	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:248039238G>T	ENST00000366481.3	+	6	956	c.908G>T	c.(907-909)aGt>aTt	p.S303I	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	303	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S303N(1)|p.S303I(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)			GCGCACCCGAGTCTGCTCTTG	0.562																																						uc001ido.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(907-909)AGT>ATT		tripartite motif-containing 58							72.0	69.0	70.0					1																	248039238		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039238G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.908G>T	1.37:g.248039238G>T	ENSP00000355437:p.Ser303Ile					OR2W3_uc001idp.1_5'UTR	p.S303I	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	956	+	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)	303			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.908G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827266	0.16749	.	.	ENSG00000162722	ENST00000366481	T	0.04603	3.59	3.95	2.02	0.26589	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.367653	0.26895	N	0.021946	T	0.05227	0.0139	L	0.41415	1.275	0.19300	N	0.999976	B	0.30793	0.295	B	0.41412	0.356	T	0.36672	-0.9738	10	0.22706	T	0.39	.	2.6836	0.05101	0.1014:0.1888:0.5143:0.1954	.	303	Q8NG06	TRI58_HUMAN	I	303	ENSP00000355437:S303I	ENSP00000355437:S303I	S	+	2	0	TRIM58	246105861	0.000000	0.05858	0.362000	0.25862	0.004000	0.04260	0.776000	0.26704	0.610000	0.30035	-0.175000	0.13238	AGT		PASS	0.562	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		14	67	14	67	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106336	249106336	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr1:249106336C>A	ENST00000366472.5	-	7	2174	c.945G>T	c.(943-945)ggG>ggT	p.G315G	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.G283G	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	315								p.G315G(1)		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)			CCTCCTCCAGCCCCGCACCCT	0.736																																						uc001iew.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(943-945)GGG>GGT		SH3-binding domain protein 5-like							14.0	18.0	17.0					1																	249106336		2198	4284	6482	SO:0001819	synonymous_variant	80851							g.chr1:249106336C>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.945G>T	1.37:g.249106336C>A						SH3BP5L_uc010pzp.1_Silent_p.G208G|SH3BP5L_uc010pzq.1_Silent_p.G283G|SH3BP5L_uc001iev.1_Silent_p.G196G	p.G315G	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	1497	-	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)	315					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.945G>T	CCDS31126.1																																																																																				PASS	0.736	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		5	13	5	13	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9588382	9588382	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:9588382G>A	ENST00000238112.3	+	11	1504	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	CPSF3_ENST00000460593.1_Missense_Mutation_p.R396Q	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	433					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)	p.R433Q(1)		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)		GCACTGATTCGAGAATATGAA	0.358																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1297-1299)CGA>CAA		cleavage and polyadenylation specific factor 3,							76.0	75.0	75.0					2																	9588382		2203	4300	6503	SO:0001583	missense	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.chr2:9588382G>A	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.1298G>A	2.37:g.9588382G>A	ENSP00000238112:p.Arg433Gln					CPSF3_uc010ewx.1_Missense_Mutation_p.R384Q|CPSF3_uc002qzp.1_Missense_Mutation_p.R396Q|CPSF3_uc002qzq.1_Missense_Mutation_p.R10Q	p.R433Q	NM_016207	NP_057291	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)	11	1333	+	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)	433					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.1298G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069305	0.76301	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.42900	0.96;0.96	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.38054	0.1026	L	0.49256	1.55	0.80722	D	1	B;B	0.23650	0.089;0.058	B;B	0.12837	0.008;0.005	T	0.25710	-1.0124	10	0.11182	T	0.66	-12.1035	19.14	0.93444	0.0:0.0:1.0:0.0	.	384;433	E7ER23;Q9UKF6	.;CPSF3_HUMAN	Q	433;155;384;396	ENSP00000238112:R433Q;ENSP00000418957:R396Q	ENSP00000238112:R433Q	R	+	2	0	CPSF3	9505833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.589000	0.87451	0.655000	0.94253	CGA		PASS	0.358	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		15	40	15	40	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9991696	9991696	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:9991696G>A	ENST00000263663.5	+	4	420	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	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	78	N-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)	p.E78K(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)					GTATGTGTGTGAAGGTTTCCA	0.343																																						uc002qzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(232-234)GAA>AAA		TBP-associated factor 1B							199.0	203.0	202.0					2																	9991696		2203	4300	6503	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.chr2:9991696G>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.232G>A	2.37:g.9991696G>A	ENSP00000263663:p.Glu78Lys					TAF1B_uc010exc.2_Missense_Mutation_p.E78K|TAF1B_uc002qzy.3_Missense_Mutation_p.E78K|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR	p.E78K	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			4	332	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		78					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.232G>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007996	0.93287	.	.	ENSG00000115750	ENST00000263663;ENST00000402170;ENST00000404869	T	0.31247	1.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.991;0.996;0.996	T	0.52313	-0.8592	9	.	.	.	-31.8042	16.8356	0.85956	0.0:0.0:1.0:0.0	.	78;78;78	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	K	78	ENSP00000263663:E78K	.	E	+	1	0	TAF1B	9909147	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.638000	0.74309	2.785000	0.95823	0.655000	0.94253	GAA		PASS	0.343	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		27	127	27	127	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9991740	9991740	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:9991740G>C	ENST00000263663.5	+	4	464	c.276G>C	c.(274-276)aaG>aaC	p.K92N	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	92	N-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)	p.K92N(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)					AAGCCTTAAAGAACCTTGGAG	0.343																																						uc002qzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(274-276)AAG>AAC		TBP-associated factor 1B							162.0	168.0	166.0					2																	9991740		2203	4299	6502	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.chr2:9991740G>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.276G>C	2.37:g.9991740G>C	ENSP00000263663:p.Lys92Asn					TAF1B_uc010exc.2_Missense_Mutation_p.K92N|TAF1B_uc002qzy.3_Missense_Mutation_p.K92N|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR	p.K92N	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			4	376	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		92					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.276G>C	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149720	0.37923	.	.	ENSG00000115750	ENST00000263663;ENST00000402170;ENST00000404869	T	0.11495	2.77	5.57	2.64	0.31445	.	0.638298	0.16735	N	0.201686	T	0.06280	0.0162	N	0.22421	0.69	0.80722	D	1	B;B;P	0.38504	0.281;0.309;0.634	B;B;B	0.36186	0.076;0.081;0.219	T	0.41378	-0.9512	9	.	.	.	-7.8915	6.1059	0.20073	0.1671:0.0:0.678:0.1549	.	92;92;92	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	N	92	ENSP00000263663:K92N	.	K	+	3	2	TAF1B	9909191	0.500000	0.26091	1.000000	0.80357	0.979000	0.70002	1.214000	0.32419	1.493000	0.48517	0.655000	0.94253	AAG		PASS	0.343	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		23	115	23	115	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11706686	11706686	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:11706686G>A	ENST00000381486.2	+	4	658	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	GREB1_ENST00000389825.3_Missense_Mutation_p.V10M|GREB1_ENST00000263834.5_Missense_Mutation_p.V120M|GREB1_ENST00000381483.2_Missense_Mutation_p.V120M|GREB1_ENST00000234142.5_Missense_Mutation_p.V120M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	120						integral component of membrane (GO:0016021)		p.V120M(3)		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)		CTTTCTCCTCGTGGGGGTCAA	0.597																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(358-360)GTG>ATG		growth regulation by estrogen in breast cancer 1							95.0	88.0	91.0					2																	11706686		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11706686G>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.358G>A	2.37:g.11706686G>A	ENSP00000370896:p.Val120Met					GREB1_uc002rbl.2_Missense_Mutation_p.V120M|GREB1_uc002rbm.2_Missense_Mutation_p.V10M|GREB1_uc002rbn.1_Missense_Mutation_p.V120M	p.V120M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	4	658	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		120					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.358G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363190	0.95877	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.65916	2.53;1.51;-0.18;1.56;2.53	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.80380	0.4612	M	0.73962	2.25	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;0.996	T	0.82114	-0.0617	10	0.87932	D	0	-40.6524	19.4103	0.94670	0.0:0.0:1.0:0.0	.	120;10;120;120	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	M	120;120;10;120;120	ENSP00000370896:V120M;ENSP00000263834:V120M;ENSP00000374475:V10M;ENSP00000370892:V120M;ENSP00000234142:V120M	ENSP00000234142:V120M	V	+	1	0	GREB1	11624137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.671000	0.98627	2.583000	0.87209	0.655000	0.94253	GTG		PASS	0.597	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		39	114	39	114	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15415908	15415908	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:15415908C>G	ENST00000281513.5	-	44	5449	c.5424G>C	c.(5422-5424)atG>atC	p.M1808I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1688I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1808					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.M1808I(1)		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						CAAGAGGACTCATGTTTTCAT	0.353																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(5422-5424)ATG>ATC		neuroblastoma-amplified protein							56.0	58.0	57.0					2																	15415908		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415908C>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.5424G>C	2.37:g.15415908C>G	ENSP00000281513:p.Met1808Ile					NBAS_uc010exl.1_Missense_Mutation_p.M880I|NBAS_uc002rcd.1_RNA	p.M1808I	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			44	5450	-			1808					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5424G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.433|9.433	1.086148|1.086148	0.20390|0.20390	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.09255|.	3.0;3.17|.	5.44|5.44	2.53|2.53	0.30540|0.30540	.|.	1.284530|.	0.04775|.	N|.	0.428689|.	T|.	0.26593|.	0.0650|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.27997|.	0.197;0.001|.	B;B|.	0.32022|.	0.139;0.003|.	T|.	0.19451|.	-1.0305|.	10|.	0.87932|.	D|.	0|.	.|.	6.3063|6.3063	0.21141|0.21141	0.0:0.5321:0.2352:0.2327|0.0:0.5321:0.2352:0.2327	.|.	1688;1808|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	I|S	1688;1808|856	ENSP00000413201:M1688I;ENSP00000281513:M1808I|.	ENSP00000281513:M1808I|.	M|X	-|-	3|2	0|2	NBAS|NBAS	15333359|15333359	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.987000|0.987000	0.75469|0.75469	-0.432000|-0.432000	0.06956|0.06956	0.796000|0.796000	0.33947|0.33947	0.655000|0.655000	0.94253|0.94253	ATG|TGA		PASS	0.353	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		27	89	27	89	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24484607	24484607	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:24484607T>A	ENST00000355123.4	-	21	2803	c.2360A>T	c.(2359-2361)gAt>gTt	p.D787V	ITSN2_ENST00000406921.3_Missense_Mutation_p.D787V|ITSN2_ENST00000361999.3_Missense_Mutation_p.D760V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	787	SH3 1. {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)	p.D786V(1)|p.D787V(1)		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)					GGTTTTTTCATCAACCTACGG	0.333																																						uc002rfe.2																			2	Substitution - Missense(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2359-2361)GAT>GTT		intersectin 2 isoform 1							52.0	51.0	52.0					2																	24484607		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.chr2:24484607T>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.2360A>T	2.37:g.24484607T>A	ENSP00000347244:p.Asp787Val					ITSN2_uc002rff.2_Missense_Mutation_p.D760V|ITSN2_uc002rfg.2_Missense_Mutation_p.D787V	p.D787V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			21	2618	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		787			SH3 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2360A>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	15.08	2.725940	0.48833	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.92	4.92	0.64577	Src homology-3 domain (4);	0.584663	0.12968	U	0.424405	T	0.26774	0.0655	N	0.11870	0.19	0.58432	D	0.999998	D;D;D	0.60160	0.983;0.983;0.987	P;P;P	0.55749	0.755;0.676;0.783	T	0.07366	-1.0776	10	0.72032	D	0.01	.	11.5763	0.50864	0.0:0.0:0.1492:0.8508	.	787;760;787	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	V	760;787;760;787	ENSP00000354561:D760V;ENSP00000347244:D787V;ENSP00000370250:D760V;ENSP00000384499:D787V	ENSP00000347244:D787V	D	-	2	0	ITSN2	24338111	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	5.912000	0.69948	2.014000	0.59158	0.454000	0.30748	GAT		PASS	0.333	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		5	47	5	47	---	---	---	---
TRMT61B	55006	broad.mit.edu	37	2	29092700	29092700	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:29092700C>T	ENST00000306108.5	-	1	467	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	148					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)	p.E148E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAAAGGGTCTCTCTCTGGAAG	0.493																																						uc002rmm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(442-444)GAG>GAA		tRNA methyltransferase 61 homolog B							39.0	42.0	41.0					2																	29092700		2203	4300	6503	SO:0001819	synonymous_variant	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092700C>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.444G>A	2.37:g.29092700C>T						TRMT61B_uc002rmn.2_Silent_p.E148E|TRMT61B_uc010ezk.2_RNA	p.E148E	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			1	476	-			148					Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	c.444G>A	CCDS1768.1																																																																																				PASS	0.493	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		12	57	12	57	---	---	---	---
CAPN13	92291	broad.mit.edu	37	2	30987131	30987131	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:30987131T>C	ENST00000295055.8	-	6	742	c.566A>G	c.(565-567)gAg>gGg	p.E189G	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.E189G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	189	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)	p.E189G(1)		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)					CAGGGCATCCTCGAGGAAGCC	0.587																																						uc002rnn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(565-567)GAG>GGG		calpain 13							57.0	57.0	57.0					2																	30987131		2088	4213	6301	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987131T>C		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.566A>G	2.37:g.30987131T>C	ENSP00000295055:p.Glu189Gly					CAPN13_uc002rnp.1_Missense_Mutation_p.E189G	p.E189G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			6	742	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		189			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.566A>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095115	0.20471	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87412	-2.25;-2.25	5.22	2.28	0.28536	Peptidase C2, calpain, catalytic domain (3);	0.591665	0.18875	N	0.128721	T	0.70159	0.3192	N	0.01424	-0.875	0.09310	N	1	B	0.24651	0.108	B	0.27796	0.083	T	0.62909	-0.6754	10	0.59425	D	0.04	.	13.1088	0.59261	0.0:0.0:0.5644:0.4356	.	189	Q6MZZ7	CAN13_HUMAN	G	189	ENSP00000295055:E189G;ENSP00000431298:E189G	ENSP00000295055:E189G	E	-	2	0	CAPN13	30840635	0.184000	0.23200	0.162000	0.22713	0.200000	0.23975	2.919000	0.48836	0.156000	0.19299	-0.648000	0.03929	GAG		PASS	0.587	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	23	9	23	---	---	---	---
CDKL4	344387	broad.mit.edu	37	2	39411779	39411779	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:39411779C>G	ENST00000395035.3	-	7	744	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	CDKL4_ENST00000378803.1_Missense_Mutation_p.E249Q			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E249Q(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AACTTTTCCTCAAGAGTTTCC	0.323																																						uc002rrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(745-747)GAG>CAG		cyclin-dependent kinase-like 4							66.0	66.0	66.0					2																	39411779		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39411779C>G		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.745G>C	2.37:g.39411779C>G	ENSP00000378476:p.Glu249Gln					CDKL4_uc010fal.1_Missense_Mutation_p.E249Q	p.E249Q	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			7	745	-		all_hematologic(82;0.248)	249			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.745G>C		.	.	.	.	.	.	.	.	.	.	C	15.24	2.774884	0.49786	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.43294	2.78;0.95;0.95	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);	0.111082	0.40222	N	0.001159	T	0.33789	0.0875	L	0.35487	1.065	0.47511	D	0.999444	B;B	0.34200	0.441;0.019	B;B	0.31751	0.135;0.025	T	0.29336	-1.0015	10	0.56958	D	0.05	-20.1468	15.3261	0.74164	0.0:1.0:0.0:0.0	.	249;249	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	Q	31;249;249	ENSP00000389833:E31Q;ENSP00000368080:E249Q;ENSP00000378476:E249Q	ENSP00000368080:E249Q	E	-	1	0	CDKL4	39265283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.624000	0.67764	2.300000	0.77407	0.655000	0.94253	GAG		PASS	0.323	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		6	38	6	38	---	---	---	---
EML4	27436	broad.mit.edu	37	2	42483655	42483655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:42483655C>T	ENST00000318522.5	+	3	485	c.223C>T	c.(223-225)Cga>Tga	p.R75*	EML4_ENST00000401738.3_Nonsense_Mutation_p.R75*|EML4_ENST00000402711.2_Nonsense_Mutation_p.R75*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	75					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)		p.R75*(1)	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						ACCAAGCCCTCGAGCAGTTAT	0.343			T	ALK	NSCLC																																	uc002rsi.2				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(246)	1	Substitution - Nonsense(1)		lung(1)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						c.(223-225)CGA>TGA		echinoderm microtubule associated protein like 4							85.0	77.0	80.0					2																	42483655		2203	4300	6503	SO:0001587	stop_gained	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42483655C>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.223C>T	2.37:g.42483655C>T	ENSP00000320663:p.Arg75*					EML4_uc002rsh.3_Nonsense_Mutation_p.R75*|EML4_uc010fap.2_Nonsense_Mutation_p.R75*	p.R75*	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN			3	485	+			75					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	ENST00000318522.5	37	c.223C>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798657	0.96960	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.68	5.68	0.88126	.	0.057095	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4774	19.7964	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000320663:R75X	R	+	1	2	EML4	42337159	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.608000	0.67654	2.702000	0.92279	0.655000	0.94253	CGA		PASS	0.343	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		23	56	23	56	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026133	48026133	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:48026133G>A	ENST00000234420.5	+	4	1163	c.1011G>A	c.(1009-1011)ttG>ttA	p.L337L	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.L35L|MSH6_ENST00000540021.1_Silent_p.L207L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	337					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.L337L(1)		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)			AGAATACTTTGAGAGCTTTCT	0.448			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3			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		3	Whole gene deletion(2)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(1009-1011)TTG>TTA	MMR	mutS homolog 6							125.0	131.0	129.0					2																	48026133		2203	4300	6503	SO:0001819	synonymous_variant	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_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.chr2:48026133G>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.1011G>A	2.37:g.48026133G>A						MSH6_uc002rwc.2_Silent_p.L337L|MSH6_uc010fbj.2_Silent_p.L35L|MSH6_uc010yoi.1_Silent_p.L207L|MSH6_uc010yoj.1_Silent_p.L35L	p.L337L	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1163	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	337					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	c.1011G>A	CCDS1836.1																																																																																				PASS	0.448	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		77	333	77	333	---	---	---	---
PPP1R21	129285	broad.mit.edu	37	2	48688336	48688336	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:48688336C>G	ENST00000294952.8	+	7	816	c.659C>G	c.(658-660)tCa>tGa	p.S220*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.S220*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.S220*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	220						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.S220*(2)		endometrium(2)|kidney(4)|lung(9)	15						GAATCCTTATCAATCATCAAT	0.294																																						uc002rwm.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(658-660)TCA>TGA		KLRAQ motif containing 1 isoform 1							71.0	76.0	74.0					2																	48688336		2202	4299	6501	SO:0001587	stop_gained	129285							g.chr2:48688336C>G	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.659C>G	2.37:g.48688336C>G	ENSP00000294952:p.Ser220*					KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.S220*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.S220*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.S174*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.S220*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.S220*	p.S220*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			7	844	+			220					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.659C>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353914	0.95830	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	4.71	4.71	0.59529	.	0.337294	0.33309	N	0.005052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-1.8522	9.0308	0.36258	0.1382:0.5924:0.2693:0.0	.	.	.	.	X	220	.	ENSP00000281394:S220X	S	+	2	0	KLRAQ1	48541840	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.488000	0.22371	2.343000	0.79666	0.462000	0.41574	TCA		PASS	0.294	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		45	146	45	146	---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54856492	54856492	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:54856492G>C	ENST00000356805.4	+	14	2502	c.2221G>C	c.(2221-2223)Gag>Cag	p.E741Q	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E728Q	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	741					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)	p.E728Q(1)|p.E741Q(1)		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)			GAAGCGCCTGGAGGAGGCCTC	0.587																																						uc002rxu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(2221-2223)GAG>CAG		spectrin, beta, non-erythrocytic 1 isoform 1							48.0	52.0	51.0					2																	54856492		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856492G>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.2221G>C	2.37:g.54856492G>C	ENSP00000349259:p.Glu741Gln					SPTBN1_uc002rxv.1_Missense_Mutation_p.E741Q|SPTBN1_uc002rxx.2_Missense_Mutation_p.E728Q	p.E741Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		14	2470	+			741			Spectrin 5.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2221G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182106	0.06340	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.40225	1.15;1.04	5.83	5.83	0.93111	.	0.162049	0.52532	D	0.000061	T	0.29223	0.0727	N	0.17838	0.53	0.41486	D	0.988198	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.19484	-1.0304	10	0.05351	T	0.99	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	728;741	Q01082-3;Q01082	.;SPTB2_HUMAN	Q	741;728	ENSP00000349259:E741Q;ENSP00000334156:E728Q	ENSP00000334156:E728Q	E	+	1	0	SPTBN1	54709996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.280000	0.51677	2.769000	0.95229	0.655000	0.94253	GAG		PASS	0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			9	256	9	256	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55561844	55561844	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:55561844C>T	ENST00000436346.1	-	15	2954	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E705K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E705K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E705K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	705					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E705K(2)		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						CTTCGCAGTTCTAAGTTTTCC	0.333																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2113-2115)GAA>AAA		coiled-coil domain containing 88A isoform 1							79.0	81.0	80.0					2																	55561844		2202	4299	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561844C>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.2113G>A	2.37:g.55561844C>T	ENSP00000410608:p.Glu705Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E705K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E705K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E607K|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	p.E705K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	2955	-			705			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2113G>A		.	.	.	.	.	.	.	.	.	.	C	14.23	2.474411	0.43942	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.15139	2.45;2.67;2.68;2.47	4.9	4.9	0.64082	.	0.000000	0.48767	U	0.000164	T	0.12561	0.0305	L	0.28054	0.825	0.80722	D	1	B;B;B	0.33171	0.212;0.4;0.138	B;B;B	0.31869	0.137;0.121;0.044	T	0.08391	-1.0724	10	0.40728	T	0.16	-16.3708	11.8931	0.52641	0.0:0.919:0.0:0.081	.	705;705;705	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	705	ENSP00000338728:E705K;ENSP00000263630:E705K;ENSP00000410608:E705K;ENSP00000404431:E705K	ENSP00000263630:E705K	E	-	1	0	CCDC88A	55415348	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.489000	0.60309	2.421000	0.82119	0.462000	0.41574	GAA		PASS	0.333	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		25	228	25	228	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55576656	55576656	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:55576656C>T	ENST00000436346.1	-	9	1721	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E294K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E294K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E294K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	294					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.E294K(2)		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						GTACAAACCTCTTGTTGCAGC	0.328																																						uc002ryv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(880-882)GAG>AAG		coiled-coil domain containing 88A isoform 1							148.0	142.0	144.0					2																	55576656		2203	4298	6501	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55576656C>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.880G>A	2.37:g.55576656C>T	ENSP00000410608:p.Glu294Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E294K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E294K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E196K	p.E294K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			9	1722	-			294			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.880G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.812760	0.96975	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.8	5.8	0.92144	.	0.000000	0.45361	U	0.000363	T	0.80188	0.4577	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.74348	0.983;0.942;0.958	T	0.80099	-0.1524	10	0.56958	D	0.05	-13.63	20.0706	0.97721	0.0:1.0:0.0:0.0	.	294;294;294	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	294	ENSP00000338728:E294K;ENSP00000263630:E294K;ENSP00000410608:E294K;ENSP00000404431:E294K	ENSP00000263630:E294K	E	-	1	0	CCDC88A	55430160	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.205000	0.77881	2.744000	0.94065	0.655000	0.94253	GAG		PASS	0.328	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		5	236	5	236	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55806830	55806830	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:55806830C>G	ENST00000345102.5	-	9	1754	c.1453G>C	c.(1453-1455)Gac>Cac	p.D485H	SMEK2_ENST00000407823.3_Missense_Mutation_p.D485H|SMEK2_ENST00000272313.5_Missense_Mutation_p.D485H	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	485					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)		p.D485H(2)		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)			TCACATTTGTCTTCTGAAGTA	0.318																																						uc002rzc.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1453-1455)GAC>CAC		SMEK homolog 2, suppressor of mek1 isoform 1							99.0	103.0	102.0					2																	55806830		2203	4299	6502	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55806830C>G	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.1453G>C	2.37:g.55806830C>G	ENSP00000339769:p.Asp485His					SMEK2_uc002rzb.2_Missense_Mutation_p.D485H|SMEK2_uc002rzd.2_Missense_Mutation_p.D485H|SMEK2_uc002rza.2_Missense_Mutation_p.D361H	p.D485H	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	1828	-			485					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1453G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827120	0.71143	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.46451	1.41;0.87;0.87	5.62	5.62	0.85841	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.31207	0.915	0.80722	D	1	D;D;P;P	0.64830	0.987;0.994;0.898;0.904	P;P;P;P	0.58172	0.834;0.832;0.707;0.701	T	0.26677	-1.0096	10	0.25751	T	0.34	-8.3382	19.6594	0.95859	0.0:1.0:0.0:0.0	.	485;485;485;485	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	H	485	ENSP00000272313:D485H;ENSP00000385912:D485H;ENSP00000339769:D485H	ENSP00000272313:D485H	D	-	1	0	SMEK2	55660334	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.089000	0.71384	2.657000	0.90304	0.561000	0.74099	GAC		PASS	0.318	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		15	199	15	199	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61558465	61558465	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:61558465T>C	ENST00000398571.2	-	20	2952	c.2876A>G	c.(2875-2877)gAt>gGt	p.D959G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	959					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D959G(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACCAAATTATCAAAGAAAAG	0.343																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2875-2877)GAT>GGT		ubiquitin specific protease 34							118.0	112.0	114.0					2																	61558465		1825	4072	5897	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.chr2:61558465T>C	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.2876A>G	2.37:g.61558465T>C	ENSP00000381577:p.Asp959Gly						p.D959G	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		20	2898	-			959					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2876A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814769	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03635	3.86	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.09069	0.0224	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.51505	-0.8697	10	0.25106	T	0.35	.	15.9896	0.80193	0.0:0.0:0.0:1.0	.	959	Q70CQ2	UBP34_HUMAN	G	807;807;959	ENSP00000381577:D959G	ENSP00000263989:D807G	D	-	2	0	USP34	61411969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.238000	0.73509	0.533000	0.62120	GAT		PASS	0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			131	71	131	71	---	---	---	---
PLEK	5341	broad.mit.edu	37	2	68608007	68608007	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:68608007C>G	ENST00000234313.7	+	3	530	c.351C>G	c.(349-351)tcC>tcG	p.S117S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	117					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)	p.S117S(1)		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)		CCAGGAGGTCCATTCGACTGC	0.458																																						uc002sen.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)TCC>TCG		pleckstrin							143.0	135.0	137.0					2																	68608007		2203	4300	6503	SO:0001819	synonymous_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.chr2:68608007C>G	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.351C>G	2.37:g.68608007C>G						PLEK_uc010fde.2_Silent_p.S117S	p.S117S	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	513	+		Ovarian(717;0.0129)	117					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.351C>G	CCDS1887.1																																																																																				PASS	0.458	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		84	217	84	217	---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69704048	69704048	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:69704048C>A	ENST00000409085.4	-	21	3131	c.2755G>T	c.(2755-2757)Gac>Tac	p.D919Y	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	919					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.D919Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGAATAGGGTCAAACTCATCT	0.428																																						uc002sfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2755-2757)GAC>TAC		AP2 associated kinase 1							120.0	119.0	119.0					2																	69704048		1873	4095	5968	SO:0001583	missense	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69704048C>A	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2755G>T	2.37:g.69704048C>A	ENSP00000386456:p.Asp919Tyr						p.D919Y	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN			21	3260	-			919					Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	c.2755G>T	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703355	0.88924	.	.	ENSG00000115977	ENST00000409085	T	0.32515	1.45	5.71	5.71	0.89125	.	.	.	.	.	T	0.45935	0.1367	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.44636	-0.9315	9	0.87932	D	0	.	18.8518	0.92235	0.0:1.0:0.0:0.0	.	919	Q2M2I8	AAK1_HUMAN	Y	919	ENSP00000386456:D919Y	ENSP00000386456:D919Y	D	-	1	0	AAK1	69557552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.694000	0.91930	0.655000	0.94253	GAC		PASS	0.428	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911		24	53	24	53	---	---	---	---
PRADC1	84279	broad.mit.edu	37	2	73456011	73456011	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:73456011C>T	ENST00000258083.2	-	4	425	c.358G>A	c.(358-360)Gac>Aac	p.D120N	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	120	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.D120N(1)		endometrium(1)|large_intestine(1)|lung(2)	4						CTGTCATTGTCAACTGCGTTG	0.612																																						uc002siy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GAC>AAC		chromosome 2 open reading frame 7 precursor							44.0	39.0	41.0					2																	73456011		2203	4300	6503	SO:0001583	missense	84279					extracellular region		g.chr2:73456011C>T	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.358G>A	2.37:g.73456011C>T	ENSP00000258083:p.Asp120Asn						p.D120N	NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN			4	426	-			120			PA.		Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	c.358G>A	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798536	0.70567	.	.	ENSG00000135617	ENST00000258083	T	0.51071	0.72	4.63	4.63	0.57726	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	N	0.17379	0.485	0.58432	D	0.999998	D	0.53462	0.96	P	0.61328	0.887	T	0.40459	-0.9562	10	0.25106	T	0.35	-15.1583	16.5797	0.84711	0.0:1.0:0.0:0.0	.	120	Q9BSG0	PADC1_HUMAN	N	120	ENSP00000258083:D120N	ENSP00000258083:D120N	D	-	1	0	PRADC1	73309519	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.461000	0.73522	2.571000	0.86741	0.650000	0.86243	GAC		PASS	0.612	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		12	32	12	32	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73826595	73826595	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:73826595C>G	ENST00000264448.6	+	17	11723	c.11612C>G	c.(11611-11613)tCt>tGt	p.S3871C	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3829C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3871					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)		p.S3871C(1)		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						AGCTCAAACTCTACTTTTTGC	0.338																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(11617-11619)TCT>TGT		Alstrom syndrome 1							199.0	181.0	186.0					2																	73826595		1849	4103	5952	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73826595C>G	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.11612C>G	2.37:g.73826595C>G	ENSP00000264448:p.Ser3871Cys					ALMS1_uc002sjf.1_Missense_Mutation_p.S3829C|ALMS1_uc002sjh.1_Missense_Mutation_p.S3259C	p.S3873C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			19	11729	+			3871					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11618C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498238	0.26861	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.10960	2.82;2.82	4.84	3.96	0.45880	.	0.131060	0.34828	N	0.003659	T	0.22322	0.0538	L	0.46157	1.445	0.30825	N	0.737298	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.967	T	0.03739	-1.1008	10	0.87932	D	0	.	8.8684	0.35300	0.0:0.899:0.0:0.101	.	3829;3871	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	C	3829;3871	ENSP00000386627:S3829C;ENSP00000264448:S3871C	ENSP00000264448:S3871C	S	+	2	0	ALMS1	73680103	0.040000	0.19996	0.066000	0.19879	0.087000	0.18053	1.888000	0.39708	1.275000	0.44379	0.655000	0.94253	TCT		PASS	0.338	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		27	378	27	378	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	76976038	76976038	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:76976038G>T	ENST00000409093.1	-	4	1892	c.1556C>A	c.(1555-1557)cCa>cAa	p.P519Q	LRRTM4_ENST00000409911.1_Missense_Mutation_p.P520Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P519Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	519					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.P519Q(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CATGTGGTGTGGCATCTGGAT	0.458																																						uc002snr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|ovary(1)	4						c.(1555-1557)CCA>CAA		leucine rich repeat transmembrane neuronal 4							52.0	51.0	51.0					2																	76976038		1568	3582	5150	SO:0001583	missense	80059					integral to membrane		g.chr2:76976038G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1556C>A	2.37:g.76976038G>T	ENSP00000386357:p.Pro519Gln					LRRTM4_uc002snq.2_Missense_Mutation_p.P519Q	p.P519Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	4	1971	-			519			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1556C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687100	0.48097	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.51325	0.71;0.73;0.73	5.91	5.02	0.67125	.	.	.	.	.	T	0.43255	0.1239	L	0.27053	0.805	0.80722	D	1	P	0.47106	0.89	P	0.48114	0.567	T	0.44283	-0.9338	9	0.72032	D	0.01	.	12.1178	0.53875	0.0851:0.0:0.9149:0.0	.	519	Q86VH4	LRRT4_HUMAN	Q	520;519;519	ENSP00000387228:P520Q;ENSP00000387297:P519Q;ENSP00000386357:P519Q	ENSP00000386357:P519Q	P	-	2	0	LRRTM4	76829546	1.000000	0.71417	0.212000	0.23672	0.591000	0.36615	5.680000	0.68168	1.466000	0.48025	0.650000	0.86243	CCA		PASS	0.458	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		18	35	18	35	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79348017	79348017	+	Silent	SNP	G	G	A	rs113485193	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:79348017G>A	ENST00000233735.1	+	2	133	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	10					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.L10L(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						ACTTCATGCTGATCTCCTGCC	0.463																																						uc002snz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)CTG>CTA		regenerating islet-derived 1 alpha precursor							120.0	100.0	107.0					2																	79348017		2203	4300	6503	SO:0001819	synonymous_variant	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348017G>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.30G>A	2.37:g.79348017G>A						REG1A_uc010ffx.1_Silent_p.L10L|REG1A_uc010ysd.1_Silent_p.L10L	p.L10L	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	133	+			10					P11379|Q4ZG28	Silent	SNP	ENST00000233735.1	37	c.30G>A	CCDS1964.1																																																																																				PASS	0.463	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		16	126	16	126	---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85361184	85361184	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:85361184C>A	ENST00000282111.3	+	2	570	c.295C>A	c.(295-297)Cgg>Agg	p.R99R		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	99					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)	p.R99R(1)		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						CCAGAAGCCGCGGGACTATTT	0.706																																						uc002soy.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(295-297)CGG>AGG		HMG-box transcription factor TCF-3							24.0	29.0	27.0					2																	85361184		2201	4300	6501	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85361184C>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.295C>A	2.37:g.85361184C>A							p.R99R	NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN			2	369	+			99					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.295C>A	CCDS1971.1																																																																																				PASS	0.706	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		14	41	14	41	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86719209	86719209	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:86719209G>A	ENST00000409556.1	+	27	4298	c.3933G>A	c.(3931-3933)ctG>ctA	p.L1311L	KDM3A_ENST00000409064.1_Silent_p.L1311L|KDM3A_ENST00000542128.1_Silent_p.L1259L|KDM3A_ENST00000312912.5_Silent_p.L1311L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1311					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)	p.L1311L(2)		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						TTGCTATGCTGAAAGCCAGTG	0.393																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(3931-3933)CTG>CTA		jumonji domain containing 1A							93.0	93.0	93.0					2																	86719209		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:86719209G>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.3933G>A	2.37:g.86719209G>A						KDM3A_uc010ytj.1_Silent_p.L1311L|KDM3A_uc010ytk.1_Silent_p.L1259L	p.L1311L	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			26	4260	+			1311					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.3933G>A	CCDS1990.1																																																																																				PASS	0.393	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		13	76	13	76	---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111542385	111542385	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:111542385G>A	ENST00000389811.4	+	3	376	c.152G>A	c.(151-153)gGa>gAa	p.G51E	ACOXL_ENST00000340561.4_Missense_Mutation_p.G51E|ACOXL_ENST00000439055.1_Missense_Mutation_p.G51E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	51					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.G51E(2)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCACAGGAGTGAAGGTG	0.493																																						uc002tgr.3																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)GGA>GAA		acyl-Coenzyme A oxidase-like 2							52.0	55.0	54.0					2																	111542385		1906	4137	6043	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111542385G>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.152G>A	2.37:g.111542385G>A	ENSP00000374461:p.Gly51Glu					ACOXL_uc010fkc.2_Missense_Mutation_p.G51E|ACOXL_uc010yxk.1_Missense_Mutation_p.G51E	p.G51E	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			3	376	+			51					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.152G>A		.	.	.	.	.	.	.	.	.	.	G	12.13	1.845664	0.32606	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	D;D;D	0.98876	-5.2;-5.2;-5.2	5.43	0.116	0.14647	Acyl-CoA dehydrogenase/oxidase (1);	0.731506	0.11096	N	0.600161	D	0.96710	0.8926	M	0.61703	1.905	0.09310	N	1	B;B;B	0.30281	0.18;0.275;0.167	B;B;B	0.30029	0.082;0.11;0.067	D	0.89099	0.3488	10	0.13853	T	0.58	-33.2213	11.5496	0.50713	0.0:0.5411:0.3272:0.1318	.	51;51;51	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	E	51	ENSP00000374461:G51E;ENSP00000407761:G51E;ENSP00000343717:G51E	ENSP00000343717:G51E	G	+	2	0	ACOXL	111258856	0.007000	0.16637	0.000000	0.03702	0.914000	0.54420	0.600000	0.24104	-0.295000	0.08960	-0.302000	0.09304	GGA		PASS	0.493	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		22	86	22	86	---	---	---	---
TTL	150465	broad.mit.edu	37	2	113258796	113258796	+	Silent	SNP	C	C	G	rs368240263		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:113258796C>G	ENST00000233336.6	+	4	674	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	161	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)	p.L161L(1)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAGGCATTCTCATCTCCTCAG	0.443			T	ETV6	ALL																																	uc002thu.2				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)CTC>CTG		tubulin tyrosine ligase							66.0	67.0	66.0					2																	113258796		2203	4299	6502	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113258796C>G		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.483C>G	2.37:g.113258796C>G						TTL_uc010fkm.1_5'Flank	p.L161L	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	662	+		Ovarian(717;0.024)	161			TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.483C>G	CCDS2096.1																																																																																				PASS	0.443	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		13	94	13	94	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119732103	119732103	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:119732103C>G	ENST00000327097.4	+	6	710	c.575C>G	c.(574-576)tCg>tGg	p.S192W	MARCO_ENST00000541757.1_Missense_Mutation_p.S114W	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	192	Collagen-like.				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.S192W(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						CCAGGCCCCTCGGGACCCCAA	0.537																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(574-576)TCG>TGG		macrophage receptor with collagenous structure							72.0	75.0	74.0					2																	119732103		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.chr2:119732103C>G	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.575C>G	2.37:g.119732103C>G	ENSP00000318916:p.Ser192Trp					MARCO_uc010yyf.1_Missense_Mutation_p.S114W	p.S192W	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			6	707	+			192			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.575C>G	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296458	0.10622	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93811	-3.29;-3.29	5.08	-0.079	0.13712	.	0.417956	0.21187	N	0.078714	D	0.90270	0.6957	L	0.58510	1.815	0.09310	N	1	P	0.48407	0.91	P	0.44696	0.458	T	0.83105	-0.0126	9	.	.	.	.	8.1446	0.31104	0.4126:0.3193:0.2681:0.0	.	192	Q9UEW3	MARCO_HUMAN	W	192;192;114	ENSP00000318916:S192W;ENSP00000441769:S114W	.	S	+	2	0	MARCO	119448573	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.414000	0.07114	-0.108000	0.12066	-0.150000	0.13652	TCG		PASS	0.537	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		7	31	7	31	---	---	---	---
CFAP221	200373	broad.mit.edu	37	2	120362833	120362833	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:120362833C>G	ENST00000413369.3	+	11	1188	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	PCDP1_ENST00000602047.1_Missense_Mutation_p.D81E|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978												p.D81E(1)				Colorectal(110;0.196)					TCAGACAGGACATTCACGAAG	0.373																																						uc002tmb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GAC>GAG		primary ciliary dyskinesia protein 1							66.0	68.0	67.0					2																	120362833		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120362833C>G																												ENST00000413369.3:c.1101C>G	2.37:g.120362833C>G	ENSP00000393222:p.Asp367Glu					PCDP1_uc010yyq.1_Missense_Mutation_p.D211E	p.D81E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			12	1335	+	Colorectal(110;0.196)		367	D -> G (in Ref. 2; BAG57111).					Missense_Mutation	SNP	ENST00000413369.3	37	c.243C>G	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327856	0.24080	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20738	2.05	5.22	2.25	0.28309	.	0.428825	0.23033	N	0.052717	T	0.24275	0.0588	L	0.43923	1.385	0.09310	N	0.999999	P;P	0.50943	0.94;0.897	P;P	0.49708	0.62;0.521	T	0.05289	-1.0894	10	0.72032	D	0.01	-3.42	10.0734	0.42347	0.0:0.7407:0.0:0.2593	.	211;367	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	E	81;367	ENSP00000393222:D367E	ENSP00000295220:D81E	D	+	3	2	AC069154.2	120079303	0.030000	0.19436	0.016000	0.15963	0.090000	0.18270	0.135000	0.15952	0.783000	0.33636	-0.140000	0.14226	GAC		PASS	0.373	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			36	56	36	56	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520757	131520757	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:131520757C>A	ENST00000423981.1	+	2	1222	c.1112C>A	c.(1111-1113)aCc>aAc	p.T371N	AMER3_ENST00000321420.4_Missense_Mutation_p.T371N	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	371					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.T371N(1)									GACACAGGCACCCCCAAGAGC	0.627																																						uc002trw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1111-1113)ACC>AAC		hypothetical protein LOC205147							63.0	52.0	56.0					2																	131520757		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520757C>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.1112C>A	2.37:g.131520757C>A	ENSP00000392700:p.Thr371Asn					FAM123C_uc010fmv.2_Missense_Mutation_p.T371N|FAM123C_uc010fms.1_Missense_Mutation_p.T371N|FAM123C_uc010fmt.1_Missense_Mutation_p.T371N|FAM123C_uc010fmu.1_Missense_Mutation_p.T371N	p.T371N	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1302	+	Colorectal(110;0.1)		371					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1112C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872130	0.51695	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.19532	2.14;2.14	5.4	4.51	0.55191	.	0.000000	0.64402	D	0.000003	T	0.44138	0.1279	M	0.72894	2.215	0.39115	D	0.961559	D	0.89917	1.0	D	0.87578	0.998	T	0.46555	-0.9183	10	0.52906	T	0.07	.	12.3401	0.55089	0.0:0.83:0.17:0.0	.	371	Q8N944	F123C_HUMAN	N	371	ENSP00000314914:T371N;ENSP00000392700:T371N	ENSP00000314914:T371N	T	+	2	0	FAM123C	131237227	1.000000	0.71417	0.267000	0.24556	0.350000	0.29205	6.964000	0.76061	1.377000	0.46286	0.561000	0.74099	ACC		PASS	0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		39	39	39	39	---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135630170	135630170	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:135630170G>A	ENST00000356140.5	+	8	944	c.808G>A	c.(808-810)Gat>Aat	p.D270N	ACMSD_ENST00000283054.4_Missense_Mutation_p.D212N|ACMSD_ENST00000392928.1_Missense_Mutation_p.D212N|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	270					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.D270N(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTTGGTTCATGATCCTCTGTC	0.507																																						uc002ttz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(808-810)GAT>AAT		aminocarboxymuconate semialdehyde decarboxylase							163.0	141.0	148.0					2																	135630170		2203	4300	6503	SO:0001583	missense	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135630170G>A	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.808G>A	2.37:g.135630170G>A	ENSP00000348459:p.Asp270Asn					ACMSD_uc002tua.2_Missense_Mutation_p.D212N|uc010zbe.1_Intron	p.D270N	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	8	875	+			270					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.808G>A	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	34	5.326165	0.95708	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	M	0.88906	2.99	0.80722	D	1	B;P	0.42039	0.435;0.769	P;P	0.52159	0.591;0.691	T	0.81841	-0.0747	9	0.40728	T	0.16	-18.0802	19.7307	0.96181	0.0:0.0:1.0:0.0	.	212;270	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	N	270;212;212	.	ENSP00000283054:D212N	D	+	1	0	ACMSD	135346640	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.837000	0.99465	2.685000	0.91497	0.585000	0.79938	GAT		PASS	0.507	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			44	57	44	57	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156514	145156514	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:145156514A>T	ENST00000558170.2	-	8	3424	c.2240T>A	c.(2239-2241)cTc>cAc	p.L747H	ZEB2_ENST00000303660.4_Missense_Mutation_p.L747H|ZEB2_ENST00000539609.3_Missense_Mutation_p.L723H|ZEB2_ENST00000409487.3_Missense_Mutation_p.L747H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	747					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.L747H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTGTTGTGGAGTTCTGCTAT	0.428																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2239-2241)CTC>CAC		zinc finger homeobox 1b							231.0	241.0	238.0					2																	145156514		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.chr2:145156514A>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.2240T>A	2.37:g.145156514A>T	ENSP00000454157:p.Leu747His					ZEB2_uc002tvv.2_Missense_Mutation_p.L741H|ZEB2_uc010zbm.1_Missense_Mutation_p.L718H|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L776H	p.L747H	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2720	-			747					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2240T>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347705	0.41599	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14266	2.54;2.52;2.52	5.16	5.16	0.70880	.	0.115676	0.64402	D	0.000011	T	0.15522	0.0374	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.31351	0.32;0.02;0.02;0.02	B;B;B;B	0.26969	0.075;0.018;0.018;0.018	T	0.03025	-1.1081	10	0.30078	T	0.28	-6.4507	15.3008	0.73949	1.0:0.0:0.0:0.0	.	723;612;746;747	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	H	723;747;747	ENSP00000443792:L723H;ENSP00000302501:L747H;ENSP00000386854:L747H	ENSP00000302501:L747H	L	-	2	0	ZEB2	144872984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.704000	0.68347	2.077000	0.62373	0.533000	0.62120	CTC		PASS	0.428	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		130	183	130	183	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163256909	163256909	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:163256909G>C	ENST00000332142.5	-	10	2296	c.2197C>G	c.(2197-2199)Cta>Gta	p.L733V		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	733					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.L733V(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)	TTGAGATGTAGACAAATGTCT	0.443																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(2197-2199)CTA>GTA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						121.0	123.0	122.0					2																	163256909		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163256909G>C	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.2197C>G	2.37:g.163256909G>C	ENSP00000331727:p.Leu733Val						p.L733V	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			10	2409	-			733			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2197C>G	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769524	0.69992	.	.	ENSG00000184611	ENST00000332142	D	0.96940	-4.18	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	L	0.45470	1.425	0.80722	D	1	P	0.37276	0.589	P	0.45195	0.473	D	0.94191	0.7441	10	0.24483	T	0.36	.	19.333	0.94299	0.0:0.0:1.0:0.0	.	733	Q9NS40	KCNH7_HUMAN	V	733	ENSP00000331727:L733V	ENSP00000331727:L733V	L	-	1	2	KCNH7	162965155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.819000	0.75262	2.571000	0.86741	0.591000	0.81541	CTA		PASS	0.443	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		23	136	23	136	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173355770	173355770	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:173355770A>G	ENST00000264106.6	+	22	3018	c.2815A>G	c.(2815-2817)Aag>Gag	p.K939E	ITGA6_ENST00000375221.2_Missense_Mutation_p.K939E|ITGA6_ENST00000343713.4_Missense_Mutation_p.K895E|ITGA6_ENST00000409532.1_Missense_Mutation_p.K781E|ITGA6_ENST00000264107.7_Missense_Mutation_p.K900E|ITGA6_ENST00000409080.1_Missense_Mutation_p.K900E|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	939					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.K900E(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAACTCAAGAAAGAAACGGGA	0.313																																						uc002uhp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(2698-2700)AAG>GAG		integrin alpha chain, alpha 6 isoform a							88.0	110.0	102.0					2																	173355770		2200	4299	6499	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173355770A>G		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.2815A>G	2.37:g.173355770A>G	ENSP00000264106:p.Lys939Glu					ITGA6_uc010zdy.1_Missense_Mutation_p.K781E|ITGA6_uc002uho.1_Missense_Mutation_p.K900E|ITGA6_uc010fqm.1_Missense_Mutation_p.K531E	p.K900E	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		21	2901	+			939			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2698A>G		.	.	.	.	.	.	.	.	.	.	A	7.051	0.564468	0.13498	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.48522	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.81	5.4	5.4	0.78164	.	0.686654	0.15605	N	0.253698	T	0.46737	0.1408	L	0.59436	1.845	0.32114	N	0.588926	B;B;B;B	0.18610	0.024;0.016;0.029;0.017	B;B;B;B	0.28916	0.039;0.062;0.096;0.038	T	0.51942	-0.8641	10	0.18276	T	0.48	.	13.1569	0.59522	1.0:0.0:0.0:0.0	.	895;924;900;900	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	E	781;900;939;939;895;900;939;895;67	ENSP00000386614:K781E;ENSP00000264107:K900E;ENSP00000264106:K939E;ENSP00000364369:K939E;ENSP00000341078:K895E;ENSP00000386896:K900E;ENSP00000406694:K939E;ENSP00000394169:K895E;ENSP00000388435:K67E	ENSP00000264106:K939E	K	+	1	0	ITGA6	173064016	0.131000	0.22433	0.976000	0.42696	0.933000	0.57130	1.591000	0.36665	2.049000	0.60858	0.377000	0.23210	AAG		PASS	0.313	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				102	107	102	107	---	---	---	---
OLA1	29789	broad.mit.edu	37	2	174987919	174987919	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:174987919C>T	ENST00000409546.1	-	7	1407	c.777G>A	c.(775-777)aaG>aaA	p.K259K	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000284719.3_Silent_p.K239K|OLA1_ENST00000344357.5_Silent_p.K81K|OLA1_ENST00000428402.2_Silent_p.K239K					Obg-like ATPase 1									p.K239K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						ATTTGTTTTTCTTTCTAATGT	0.343																																						uc002uih.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(715-717)AAG>AAA		Obg-like ATPase 1 isoform 1							54.0	52.0	53.0					2																	174987919		2203	4294	6497	SO:0001819	synonymous_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174987919C>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.777G>A	2.37:g.174987919C>T						OLA1_uc002uii.2_Silent_p.K81K|OLA1_uc010fqq.2_Silent_p.K239K|OLA1_uc002uij.2_Silent_p.K81K|OLA1_uc002uik.2_Silent_p.K209K|OLA1_uc010fqr.2_Silent_p.K239K	p.K239K	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			7	903	-			239						Silent	SNP	ENST00000409546.1	37	c.717G>A																																																																																					PASS	0.343	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		11	44	11	44	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179506971	179506971	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:179506971C>G	ENST00000591111.1	-	169	35852	c.35628G>C	c.(35626-35628)ctG>ctC	p.L11876L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Silent_p.L4452L|TTN_ENST00000342175.6_Silent_p.L4644L|TTN_ENST00000589042.1_Silent_p.L13517L|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000359218.5_Silent_p.L4577L|TTN_ENST00000342992.6_Silent_p.L10949L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11876	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.L10949L(2)|p.L4644L(1)|p.L4452L(1)|p.L4577L(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)			TACCGCTTTTCAGAACAACTT	0.328																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32845-32847)CTG>CTC		titin isoform N2-A							56.0	51.0	53.0					2																	179506971		1805	4068	5873	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179506971C>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.35628G>C	2.37:g.179506971C>G						TTN_uc010zfh.1_Silent_p.L4644L|TTN_uc010zfi.1_Silent_p.L4577L|TTN_uc010zfj.1_Silent_p.L4452L|TTN_uc010fre.1_Silent_p.L827L|TTN_uc002umw.1_Intron|TTN_uc002umx.1_Intron	p.L10949L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		168	33071	-			11876					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.32847G>C																																																																																					PASS	0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		2	8	2	8	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179588843	179588843	+	Missense_Mutation	SNP	C	C	A	rs148072021		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:179588843C>A	ENST00000591111.1	-	71	20416	c.20192G>T	c.(20191-20193)cGa>cTa	p.R6731L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R7048L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5804L|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12356	Ig-like 49.				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.R5804L(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)			TTTCAGTCTTCGTGTGAAAGA	0.418																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(17410-17412)CGA>CTA		titin isoform N2-A							57.0	53.0	54.0					2																	179588843		1879	4111	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588843C>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.20192G>T	2.37:g.179588843C>A	ENSP00000465570:p.Arg6731Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2465L	p.R5804L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		70	17635	-			6731					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.17411G>T		.	.	.	.	.	.	.	.	.	.	C	16.07	3.018272	0.54576	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	M	0.70275	2.135	0.80722	D	1	D	0.56287	0.975	P	0.60682	0.878	T	0.79864	-0.1623	9	0.87932	D	0	.	13.7	0.62602	0.0:0.93:0.0:0.07	.	6731	Q8WZ42	TITIN_HUMAN	L	5804	ENSP00000343764:R5804L	ENSP00000343764:R5804L	R	-	2	0	TTN	179297088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.907000	0.48743	2.865000	0.98341	0.655000	0.94253	CGA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	27	25	27	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179730515	179730515	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:179730515G>T	ENST00000420890.2	-	17	2820	c.2703C>A	c.(2701-2703)gcC>gcA	p.A901A	CCDC141_ENST00000295723.5_Silent_p.A326A	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	901								p.A326A(1)|p.A901A(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGTCTCTCATGGCGCAGTACT	0.522																																						uc002unf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(976-978)GCC>GCA		coiled-coil domain containing 141							365.0	328.0	340.0					2																	179730515		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179730515G>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.2703C>A	2.37:g.179730515G>T							p.A326A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	1035	-			326			Potential.		H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.978C>A																																																																																					PASS	0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		181	222	181	222	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201436108	201436108	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:201436108C>G	ENST00000357799.4	+	7	1137	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		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)	347					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.Q347E(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						GTGCATGAATCAAATTGAGGA	0.368																																						uc002uvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1039-1041)CAA>GAA		shugoshin-like 2 isoform 1							36.0	34.0	35.0					2																	201436108		1876	4111	5987	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436108C>G	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.1039C>G	2.37:g.201436108C>G	ENSP00000350447:p.Gln347Glu					SGOL2_uc010zhd.1_Missense_Mutation_p.Q347E|SGOL2_uc010zhe.1_Missense_Mutation_p.Q347E	p.Q347E	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1152	+			347					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1039C>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	C	5.324	0.245140	0.10077	.	.	ENSG00000163535	ENST00000357799	T	0.12465	2.68	5.45	2.44	0.29823	.	1.306700	0.04893	N	0.449998	T	0.12475	0.0303	L	0.43152	1.355	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12156	0.007;0.007;0.007	T	0.40403	-0.9565	10	0.09590	T	0.72	0.1792	7.7232	0.28744	0.4012:0.2825:0.3162:0.0	.	347;347;347	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	347	ENSP00000350447:Q347E	ENSP00000350447:Q347E	Q	+	1	0	SGOL2	201144353	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.370000	0.07523	0.793000	0.33875	0.585000	0.79938	CAA		PASS	0.368	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		19	39	19	39	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201533380	201533380	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:201533380G>A	ENST00000374700.2	+	33	3893	c.3652G>A	c.(3652-3654)Gag>Aag	p.E1218K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1218					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.E1218K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTATACAATAGAGGAACTGAA	0.428																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3652-3654)GAG>AAG		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)						152.0	152.0	152.0					2																	201533380		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.chr2:201533380G>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.3652G>A	2.37:g.201533380G>A	ENSP00000363832:p.Glu1218Lys					AOX1_uc010zhf.1_Missense_Mutation_p.E774K|AOX1_uc010fsu.2_Missense_Mutation_p.E584K	p.E1218K	NM_001159	NP_001150	Q06278	ADO_HUMAN			33	3753	+			1218					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3652G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043357	0.93685	.	.	ENSG00000138356	ENST00000374700;ENST00000439380	T;T	0.68624	-0.34;-0.34	5.1	5.1	0.69264	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.103999	0.64402	D	0.000005	D	0.89767	0.6810	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93784	0.7086	10	0.87932	D	0	-63.57	18.7004	0.91618	0.0:0.0:1.0:0.0	.	1218	Q06278	ADO_HUMAN	K	1218;58	ENSP00000363832:E1218K;ENSP00000413326:E58K	ENSP00000363832:E1218K	E	+	1	0	AOX1	201241625	1.000000	0.71417	0.979000	0.43373	0.772000	0.43724	9.122000	0.94380	2.664000	0.90586	0.563000	0.77884	GAG		PASS	0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		65	144	65	144	---	---	---	---
CATIP	375307	broad.mit.edu	37	2	219232573	219232573	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:219232573C>T	ENST00000289388.3	+	10	1079	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	C2orf62_ENST00000481940.1_3'UTR|AC021016.6_ENST00000441749.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		350					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F350F(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCGAGTTCTTCGGCCCCT	0.701																																						uc002vhr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1048-1050)TTC>TTT		hypothetical protein LOC375307							30.0	31.0	31.0					2																	219232573		2197	4290	6487	SO:0001819	synonymous_variant	375307							g.chr2:219232573C>T																												ENST00000289388.3:c.1050C>T	2.37:g.219232573C>T						C2orf62_uc002vhs.2_RNA|uc002vht.2_5'Flank	p.F350F	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1079	+		Renal(207;0.0915)	350						Silent	SNP	ENST00000289388.3	37	c.1050C>T	CCDS2414.1																																																																																				PASS	0.701	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			30	29	30	29	---	---	---	---
RQCD1	9125	broad.mit.edu	37	2	219457065	219457065	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:219457065C>T	ENST00000273064.6	+	6	954	c.579C>T	c.(577-579)gaC>gaT	p.D193D	RQCD1_ENST00000295701.5_Silent_p.D193D|RQCD1_ENST00000542068.1_Silent_p.D193D|RQCD1_ENST00000509807.2_Silent_p.D225D	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	193					cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D193D(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTAGATGACACTGGTTTGG	0.378																																						uc010zkh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(577-579)GAC>GAT		RCD1 required for cell differentiation1 homolog							289.0	267.0	275.0					2																	219457065		2203	4300	6503	SO:0001819	synonymous_variant	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219457065C>T	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.579C>T	2.37:g.219457065C>T						RQCD1_uc002vih.1_Silent_p.D193D|RQCD1_uc010zki.1_Silent_p.D225D	p.D193D	NM_005444	NP_005435	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	579	+		Renal(207;0.0915)	193					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Silent	SNP	ENST00000273064.6	37	c.579C>T	CCDS33379.1																																																																																				PASS	0.378	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		74	141	74	141	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240900568	240900568	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:240900568G>A	ENST00000252711.2	-	10	1135	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	NDUFA10_ENST00000471378.1_Intron|NDUFA10_ENST00000404554.1_Silent_p.T380T	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	345					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)	p.T345T(1)		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)		CTCCCACCTCGGTGTTGTACC	0.562																																						uc002vyn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1033-1035)ACC>ACT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						151.0	108.0	123.0					2																	240900568		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:240900568G>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.1035C>T	2.37:g.240900568G>A							p.T345T	NM_004544	NP_004535	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)	10	1115	-		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)	345					Q8WXC9	Silent	SNP	ENST00000252711.2	37	c.1035C>T	CCDS2531.1																																																																																				PASS	0.562	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		4	54	4	54	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13372064	13372064	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:13372064C>T	ENST00000254508.5	-	30	4088	c.4006G>A	c.(4006-4008)Gag>Aag	p.E1336K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1336					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)		p.E1336K(1)		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)					AAGCCTTTCTCATCAACATGC	0.493																																						uc003bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(4006-4008)GAG>AAG		nucleoporin 210 precursor							166.0	153.0	157.0					3																	13372064		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.chr3:13372064C>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.4006G>A	3.37:g.13372064C>T	ENSP00000254508:p.Glu1336Lys						p.E1336K	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			30	4089	-	all_neural(104;0.187)		1336			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4006G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868220	0.32977	.	.	ENSG00000132182	ENST00000254508	T	0.04706	3.57	5.44	3.58	0.41010	.	0.322809	0.32593	N	0.005899	T	0.04679	0.0127	L	0.39397	1.21	0.47737	D	0.999504	B	0.32939	0.391	B	0.24394	0.053	T	0.41840	-0.9486	10	0.15066	T	0.55	-23.0947	15.7992	0.78439	0.0:0.722:0.278:0.0	.	1336	Q8TEM1	PO210_HUMAN	K	1336	ENSP00000254508:E1336K	ENSP00000254508:E1336K	E	-	1	0	NUP210	13347064	0.971000	0.33674	0.337000	0.25536	0.180000	0.23129	2.410000	0.44592	0.716000	0.32124	0.563000	0.77884	GAG		PASS	0.493	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		30	147	30	147	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13372096	13372096	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:13372096C>T	ENST00000254508.5	-	30	4056	c.3974G>A	c.(3973-3975)gGa>gAa	p.G1325E		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1325					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)		p.G1325E(1)		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)					CTTTTCGGGTCCATCCAGGAC	0.512																																						uc003bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3973-3975)GGA>GAA		nucleoporin 210 precursor							119.0	112.0	114.0					3																	13372096		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.chr3:13372096C>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.3974G>A	3.37:g.13372096C>T	ENSP00000254508:p.Gly1325Glu						p.G1325E	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			30	4057	-	all_neural(104;0.187)		1325			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3974G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584983	0.46110	.	.	ENSG00000132182	ENST00000254508	T	0.05580	3.42	5.43	3.59	0.41128	.	0.195773	0.46442	D	0.000297	T	0.19846	0.0477	M	0.70595	2.14	0.52099	D	0.999944	D	0.76494	0.999	D	0.69479	0.964	T	0.00478	-1.1715	10	0.36615	T	0.2	-17.5551	11.1827	0.48638	0.0:0.8017:0.1285:0.0698	.	1325	Q8TEM1	PO210_HUMAN	E	1325	ENSP00000254508:G1325E	ENSP00000254508:G1325E	G	-	2	0	NUP210	13347096	0.996000	0.38824	0.566000	0.28421	0.099000	0.18886	3.735000	0.55044	0.736000	0.32559	0.557000	0.71058	GGA		PASS	0.512	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		24	113	24	113	---	---	---	---
NR2C2	7182	broad.mit.edu	37	3	15062303	15062303	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:15062303C>G	ENST00000425241.1	+	5	782	c.420C>G	c.(418-420)ttC>ttG	p.F140L	NR2C2_ENST00000393102.3_Missense_Mutation_p.F140L|NR2C2_ENST00000406272.2_Missense_Mutation_p.F140L|NR2C2_ENST00000323373.6_Missense_Mutation_p.F159L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	140					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)	p.F159L(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCAAAGGTTTCTTCAAAAGGA	0.443																																						uc003bzj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)TTC>TTG		nuclear receptor subfamily 2, group C, member 2							122.0	126.0	124.0					3																	15062303		2203	4300	6503	SO:0001583	missense	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.chr3:15062303C>G	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.420C>G	3.37:g.15062303C>G	ENSP00000388387:p.Phe140Leu					NR2C2_uc003bzi.2_Missense_Mutation_p.F159L	p.F140L	NM_003298	NP_003289	P49116	NR2C2_HUMAN			5	637	+			140			Nuclear receptor.		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.420C>G		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450947	0.84209	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.36	4.48	0.54585	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.99507	4.6	0.80722	D	1	D;D	0.89917	1.0;0.979	D;D	0.97110	1.0;0.982	D	0.97588	1.0115	10	0.87932	D	0	.	14.2662	0.66121	0.0:0.9277:0.0:0.0723	.	140;159	P49116;F2YGU2	NR2C2_HUMAN;.	L	140;159;140;159;140	ENSP00000388387:F140L;ENSP00000320447:F159L;ENSP00000376814:F140L;ENSP00000401807:F159L;ENSP00000384463:F140L	ENSP00000320447:F159L	F	+	3	2	NR2C2	15037307	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	1.393000	0.46605	0.467000	0.42956	TTC		PASS	0.443	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		19	86	19	86	---	---	---	---
GPD1L	23171	broad.mit.edu	37	3	32180216	32180216	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:32180216C>G	ENST00000282541.5	+	3	564	c.363C>G	c.(361-363)atC>atG	p.I121M		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	121					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)	p.I121M(1)		large_intestine(4)|lung(7)|ovary(1)	12						TCACCCTCATCAAGGTAACTC	0.488																																						uc003cew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)ATC>ATG		glycerol-3-phosphate dehydrogenase 1-like							86.0	80.0	82.0					3																	32180216		2203	4300	6503	SO:0001583	missense	23171				glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	g.chr3:32180216C>G	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.363C>G	3.37:g.32180216C>G	ENSP00000282541:p.Ile121Met						p.I121M	NM_015141	NP_055956	Q8N335	GPD1L_HUMAN			3	423	+			121					A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	c.363C>G	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700495	0.68501	.	.	ENSG00000152642	ENST00000429432;ENST00000282541;ENST00000431009	T;T;T	0.59502	0.26;0.26;0.26	5.63	1.84	0.25277	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.043941	0.85682	D	0.000000	T	0.70369	0.3216	M	0.83483	2.645	0.80722	D	1	B	0.29378	0.243	P	0.52646	0.705	T	0.67321	-0.5700	10	0.49607	T	0.09	-23.6502	3.877	0.09061	0.2481:0.3802:0.0:0.3716	.	121	Q8N335	GPD1L_HUMAN	M	82;121;82	ENSP00000393861:I82M;ENSP00000282541:I121M;ENSP00000416518:I82M	ENSP00000282541:I121M	I	+	3	3	GPD1L	32155220	0.778000	0.28640	1.000000	0.80357	0.753000	0.42808	-0.010000	0.12743	0.427000	0.26145	-0.123000	0.14984	ATC		PASS	0.488	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141		28	42	28	42	---	---	---	---
SUSD5	26032	broad.mit.edu	37	3	33195066	33195066	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:33195066T>A	ENST00000309558.3	-	5	1475	c.1058A>T	c.(1057-1059)aAg>aTg	p.K353M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	353					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.K353M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTGTCATTCTTGCCCACAAA	0.547																																						uc003cfo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1057-1059)AAG>ATG		sushi domain containing 5 precursor							87.0	90.0	89.0					3																	33195066		2099	4232	6331	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195066T>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1058A>T	3.37:g.33195066T>A	ENSP00000308727:p.Lys353Met						p.K353M	NM_015551	NP_056366	O60279	SUSD5_HUMAN			5	1476	-			353			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000309558.3	37	c.1058A>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	T	7.192	0.591715	0.13812	.	.	ENSG00000173705	ENST00000309558	T	0.07908	3.15	5.31	3.51	0.40186	.	0.732533	0.13649	N	0.372407	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	P	0.45078	0.85	B	0.34722	0.188	T	0.36841	-0.9731	10	0.48119	T	0.1	-6.9827	4.7702	0.13151	0.0:0.5659:0.1712:0.2629	.	353	O60279	SUSD5_HUMAN	M	353	ENSP00000308727:K353M	ENSP00000308727:K353M	K	-	2	0	SUSD5	33170070	0.000000	0.05858	0.734000	0.30879	0.114000	0.19823	0.155000	0.16362	0.794000	0.33899	-0.248000	0.11899	AAG		PASS	0.547	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		16	41	16	41	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37367039	37367039	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:37367039G>T	ENST00000361924.2	+	14	4036	c.3662G>T	c.(3661-3663)tGt>tTt	p.C1221F	GOLGA4_ENST00000356847.4_Missense_Mutation_p.C1243F|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1221	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.C1221F(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATATTTGCTGTAAGAAAACC	0.338																																						uc003cgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(3661-3663)TGT>TTT		golgi autoantigen, golgin subfamily a, 4							59.0	60.0	59.0					3																	37367039		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367039G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3662G>T	3.37:g.37367039G>T	ENSP00000354486:p.Cys1221Phe					GOLGA4_uc010hgr.1_Missense_Mutation_p.C782F|GOLGA4_uc003cgw.2_Missense_Mutation_p.C1243F|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.C1102F	p.C1221F	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	3966	+			1221			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3662G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	5.164	0.215897	0.09810	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27402	1.67;1.67;1.68	5.52	3.71	0.42584	.	0.422254	0.17687	N	0.165418	T	0.25568	0.0622	L	0.27053	0.805	0.20638	N	0.999875	P;P;P;P	0.42203	0.773;0.773;0.773;0.528	P;B;B;B	0.46389	0.515;0.392;0.392;0.107	T	0.08617	-1.0713	10	0.17832	T	0.49	.	9.9247	0.41485	0.0788:0.3458:0.5753:0.0	.	1221;1221;1243;1221	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	F	1221;1243;1092	ENSP00000354486:C1221F;ENSP00000349305:C1243F;ENSP00000405842:C1092F	ENSP00000349305:C1243F	C	+	2	0	GOLGA4	37342043	0.994000	0.37717	0.208000	0.23602	0.301000	0.27625	1.986000	0.40677	0.681000	0.31386	0.557000	0.71058	TGT		PASS	0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		38	50	38	50	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37514854	37514855	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:37514854_37514855GG>AT	ENST00000264741.5	+	3	579_580	c.323_324GG>AT	c.(322-324)cGG>cAT	p.R108H	ITGA9_ENST00000422441.1_Missense_Mutation_p.R108H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	108					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R108H(1)|p.R108Q(1)|p.R108R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGGAAGAATCGGGGCACGTCCT	0.579																																						uc003chd.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(322-324)CGG>CAG|c.(322-324)CGG>CGT		integrin, alpha 9 precursor																																				SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37514854G>A|g.chr3:37514855G>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	Exception_encountered	3.37:g.37514854_37514855delinsAT	ENSP00000264741:p.Arg108His					ITGA9_uc003chc.2_Missense_Mutation_p.R108Q|ITGA9_uc003chc.2_Silent_p.R108R	p.R108Q|p.R108R	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	3	376|377	+			108			Extracellular (Potential).		Q14638	Missense_Mutation|Silent	SNP	ENST00000264741.5	37	c.323G>A|c.324G>T	CCDS2669.1																																																																																				PASS	0.579	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		24	32	24	32	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42730526	42730526	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:42730526G>T	ENST00000287777.4	+	4	1687	c.1587G>T	c.(1585-1587)gtG>gtT	p.V529V		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	529					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.V529V(1)									CTGCCGAAGTGTACAGCATCA	0.582																																						uc003clv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1585-1587)GTG>GTT		kelch repeat and BTB (POZ) domain containing 5							77.0	62.0	67.0					3																	42730526		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42730526G>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.1587G>T	3.37:g.42730526G>T							p.V529V	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	4	1687	+			529			Kelch 4.		Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1587G>T	CCDS2703.1																																																																																				PASS	0.582	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		18	34	18	34	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48682912	48682912	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:48682912G>A	ENST00000164024.4	-	24	8041	c.7761C>T	c.(7759-7761)ctC>ctT	p.L2587L	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L2592L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2587					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2587L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAGGAAGAGGAGCTCTGCCA	0.632																																						uc003cul.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7759-7761)CTC>CTT		cadherin EGF LAG seven-pass G-type receptor 3							38.0	42.0	40.0					3																	48682912		2202	4296	6498	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.chr3:48682912G>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.7761C>T	3.37:g.48682912G>A						CELSR3_uc003cuf.1_Silent_p.L2657L|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.L570L	p.L2587L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	24	8042	-			2587			Helical; Name=2; (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.7761C>T	CCDS2775.1																																																																																				PASS	0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		9	80	9	80	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48682972	48682972	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:48682972G>C	ENST00000164024.4	-	24	7981	c.7701C>G	c.(7699-7701)ctC>ctG	p.L2567L	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.L2572L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2567					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2567L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CATTGGACTTGAGGCTGCGCA	0.637																																						uc003cul.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(7699-7701)CTC>CTG		cadherin EGF LAG seven-pass G-type receptor 3							40.0	44.0	43.0					3																	48682972		2203	4291	6494	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.chr3:48682972G>C	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.7701C>G	3.37:g.48682972G>C						CELSR3_uc003cuf.1_Silent_p.L2637L|CELSR3_uc010hkf.2_5'Flank|CELSR3_uc010hkg.2_Silent_p.L550L	p.L2567L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	24	7982	-			2567			Cytoplasmic (Potential).		O75092	Silent	SNP	ENST00000164024.4	37	c.7701C>G	CCDS2775.1																																																																																				PASS	0.637	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	56	4	56	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49694176	49694176	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:49694176G>A	ENST00000296452.4	+	5	7301	c.7187G>A	c.(7186-7188)cGg>cAg	p.R2396Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2396					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)	p.R2396Q(1)		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)		GAGCTAGAGCGGGAACGTGTG	0.627																																						uc003cxe.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(7186-7188)CGG>CAG		bassoon protein							34.0	32.0	33.0					3																	49694176		2193	4291	6484	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694176G>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.7187G>A	3.37:g.49694176G>A	ENSP00000296452:p.Arg2396Gln						p.R2396Q	NM_003458	NP_003449	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	7301	+			2396			Potential.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7187G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163399	0.57476	.	.	ENSG00000164061	ENST00000296452	T	0.27104	1.69	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.13361	-1.0512	10	0.37606	T	0.19	-18.4878	20.4898	0.99202	0.0:0.0:1.0:0.0	.	2396	Q9UPA5	BSN_HUMAN	Q	2396	ENSP00000296452:R2396Q	ENSP00000296452:R2396Q	R	+	2	0	BSN	49669180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.936000	0.87665	2.941000	0.99782	0.655000	0.94253	CGG		PASS	0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	8	4	8	---	---	---	---
SEMA3B	7869	broad.mit.edu	37	3	50310865	50310865	+	RNA	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:50310865G>A	ENST00000418948.1	+	0	1035							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)	p.Q266Q(1)		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)		GCGTTGGCCAGATCTGCCGGG	0.662											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cyu.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(799-801)CAG>CAA		semaphorin 3B isoform 1 precursor							32.0	38.0	36.0					3																	50310865		1945	4115	6060			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50310865G>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.50310865G>A			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	SEMA3B_uc010hlh.1_RNA|SEMA3B_uc003cyt.2_Silent_p.Q267Q|SEMA3B_uc003cyv.2_Silent_p.Q154Q|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Silent_p.Q154Q|SEMA3B_uc003cyx.2_Silent_p.Q154Q|SEMA3B_uc003cyy.2_5'UTR|SEMA3B_uc011bdo.1_Intron	p.Q267Q	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	9	1043	+			267			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Silent	SNP	ENST00000418948.1	37	c.801G>A																																																																																					PASS	0.662	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		15	70	15	70	---	---	---	---
SEMA3G	56920	broad.mit.edu	37	3	52476875	52476875	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:52476875G>C	ENST00000231721.2	-	2	163	c.164C>G	c.(163-165)tCc>tGc	p.S55C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	55	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.S55C(1)		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)		GAGGTTCAGGGAGCCCTGGGG	0.622																																						uc003dea.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(163-165)TCC>TGC		semaphorin sem2 precursor							60.0	62.0	62.0					3																	52476875		2203	4299	6502	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52476875G>C		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.164C>G	3.37:g.52476875G>C	ENSP00000231721:p.Ser55Cys						p.S55C	NM_020163	NP_064548	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)	2	164	-			55			Sema.		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.164C>G	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321744	0.41096	.	.	ENSG00000010319	ENST00000231721;ENST00000475739	T;T	0.22945	1.93;1.93	4.93	3.96	0.45880	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.569961	0.18266	N	0.146462	T	0.32763	0.0840	L	0.61036	1.89	0.09310	N	1	D	0.59357	0.985	P	0.52646	0.705	T	0.17561	-1.0365	10	0.46703	T	0.11	.	5.6319	0.17516	0.1404:0.0:0.6562:0.2034	.	55	Q9NS98	SEM3G_HUMAN	C	55;73	ENSP00000231721:S55C;ENSP00000419181:S73C	ENSP00000231721:S55C	S	-	2	0	SEMA3G	52451915	0.002000	0.14202	1.000000	0.80357	0.537000	0.34900	0.030000	0.13688	2.302000	0.77476	0.561000	0.74099	TCC		PASS	0.622	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		4	27	4	27	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52692308	52692308	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:52692308C>G	ENST00000296302.7	-	5	553	c.552G>C	c.(550-552)gaG>gaC	p.E184D	PBRM1_ENST00000356770.4_Missense_Mutation_p.E184D|PBRM1_ENST00000337303.4_Missense_Mutation_p.E184D|PBRM1_ENST00000409114.3_Missense_Mutation_p.E184D|PBRM1_ENST00000409057.1_Missense_Mutation_p.E184D|PBRM1_ENST00000409767.1_Missense_Mutation_p.E184D|PBRM1_ENST00000410007.1_Missense_Mutation_p.E184D|PBRM1_ENST00000394830.3_Missense_Mutation_p.E184D			Q86U86	PB1_HUMAN	polybromo 1	184					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.E184D(3)		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)		GCTCCAGGATCTCCTTCAAGT	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		3	Substitution - Missense(3)		lung(3)	kidney(136)|breast(4)	140						c.(550-552)GAG>GAC		polybromo 1 isoform 4							73.0	69.0	70.0					3																	52692308		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.chr3:52692308C>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.552G>C	3.37:g.52692308C>G	ENSP00000296302:p.Glu184Asp					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E184D|PBRM1_uc003der.2_Missense_Mutation_p.E184D|PBRM1_uc003det.2_Missense_Mutation_p.E184D|PBRM1_uc003deu.2_Missense_Mutation_p.E184D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E184D|PBRM1_uc010hmk.1_Missense_Mutation_p.E184D|PBRM1_uc003dey.2_Missense_Mutation_p.E184D|PBRM1_uc003dez.1_Missense_Mutation_p.E184D|PBRM1_uc003dfb.1_Missense_Mutation_p.E82D	p.E184D	NM_181042	NP_060635	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)	5	564	-			184					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.552G>C		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852143	0.32699	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;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;2.18	5.21	5.21	0.72293	Bromodomain (2);	0.167313	0.52532	D	0.000076	T	0.20820	0.0501	L	0.27053	0.805	0.44268	D	0.997126	P;B;B;B;B;P;B;B;B	0.37207	0.528;0.007;0.316;0.451;0.0;0.587;0.021;0.451;0.316	B;B;B;P;B;B;B;P;B	0.46510	0.365;0.038;0.365;0.519;0.003;0.444;0.009;0.519;0.365	T	0.02743	-1.1116	10	0.41790	T	0.15	-4.0069	8.9818	0.35970	0.0:0.7922:0.0:0.2078	.	184;184;184;184;184;184;184;184;184	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	D	184;184;184;184;184;184;184;184;184;128;184	ENSP00000349213:E184D;ENSP00000378307:E184D;ENSP00000296302:E184D;ENSP00000338302:E184D;ENSP00000386593:E184D;ENSP00000386529:E184D;ENSP00000386643:E184D;ENSP00000386601:E184D;ENSP00000387775:E184D;ENSP00000397662:E128D;ENSP00000409939:E184D	ENSP00000296302:E184D	E	-	3	2	PBRM1	52667348	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.689000	0.25437	2.447000	0.82792	0.644000	0.83932	GAG		PASS	0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		7	59	7	59	---	---	---	---
CCDC66	285331	broad.mit.edu	37	3	56627033	56627033	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:56627033G>C	ENST00000394672.3	+	8	1042	c.972G>C	c.(970-972)gtG>gtC	p.V324V	CCDC66_ENST00000326595.7_Silent_p.V290V|CCDC66_ENST00000436465.2_Silent_p.V324V	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	324					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.V207V(1)|p.V324V(1)		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)		TCAGTGCTGTGAAACAAGAAC	0.338																																						uc003dhz.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(970-972)GTG>GTC		coiled-coil domain containing 66 isoform 1							104.0	112.0	110.0					3																	56627033		2203	4300	6503	SO:0001819	synonymous_variant	285331							g.chr3:56627033G>C	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.972G>C	3.37:g.56627033G>C						CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.V290V|CCDC66_uc003dhx.2_RNA	p.V324V	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	8	1059	+			324					B3KWL8|Q4VC34|Q8N949	Silent	SNP	ENST00000394672.3	37	c.972G>C	CCDS46852.1																																																																																				PASS	0.338	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		35	144	35	144	---	---	---	---
FHIT	2272	broad.mit.edu	37	3	60522645	60522645	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:60522645G>C	ENST00000468189.1	-	5	421	c.51C>G	c.(49-51)ctC>ctG	p.L17L	FHIT_ENST00000476844.1_Silent_p.L17L|FHIT_ENST00000492590.1_Silent_p.L17L|FHIT_ENST00000341848.4_Silent_p.L17L			P49789	FHIT_HUMAN	fragile histidine triad	17	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)	p.L17L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTTCTGTTTTGAGAAACACTA	0.383			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													uc003dkx.3				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - coding silent(2)		lung(2)		0						c.(49-51)CTC>CTG		fragile histidine triad gene							94.0	88.0	90.0					3																	60522645		2203	4300	6503	SO:0001819	synonymous_variant	2272	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:60522645G>C	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.51C>G	3.37:g.60522645G>C						FHIT_uc003dky.2_Silent_p.L17L|FHIT_uc010hnn.1_Silent_p.L17L	p.L17L	NM_002012	NP_002003	P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	5	422	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	17			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Silent	SNP	ENST00000468189.1	37	c.51C>G	CCDS2894.1																																																																																				PASS	0.383	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		20	31	20	31	---	---	---	---
TMF1	7110	broad.mit.edu	37	3	69075232	69075232	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:69075232G>T	ENST00000398559.2	-	14	2990	c.2774C>A	c.(2773-2775)tCt>tAt	p.S925Y	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.S928Y|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	925					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)	p.S925Y(1)		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)		GCTAGAAACAGAAAATGGCTT	0.383																																						uc003dnn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2773-2775)TCT>TAT		TATA element modulatory factor 1							104.0	99.0	101.0					3																	69075232		1893	4125	6018	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.chr3:69075232G>T		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.2774C>A	3.37:g.69075232G>T	ENSP00000381567:p.Ser925Tyr					TMF1_uc011bfx.1_Missense_Mutation_p.S928Y	p.S925Y	NM_007114	NP_009045	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)	14	3021	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	925					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2774C>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550799	0.45383	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.46451	0.87;0.87	5.04	5.04	0.67666	.	0.255835	0.40144	N	0.001174	T	0.40297	0.1111	N	0.19112	0.55	0.39394	D	0.966476	P;P	0.51351	0.944;0.61	P;B	0.51135	0.66;0.076	T	0.42716	-0.9435	10	0.62326	D	0.03	-8.6699	15.1428	0.72623	0.0:0.0:0.8583:0.1417	.	928;925	P82094-2;P82094	.;TMF1_HUMAN	Y	925;928;841	ENSP00000381567:S925Y;ENSP00000438706:S928Y	ENSP00000348582:S841Y	S	-	2	0	TMF1	69157922	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	5.208000	0.65203	2.495000	0.84180	0.585000	0.79938	TCT		PASS	0.383	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		7	58	7	58	---	---	---	---
FOXP1	27086	broad.mit.edu	37	3	71008498	71008498	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:71008498G>T	ENST00000318789.4	-	21	2459	c.1934C>A	c.(1933-1935)gCt>gAt	p.A645D	FOXP1_ENST00000491238.1_Missense_Mutation_p.A647D|FOXP1_ENST00000475937.1_Missense_Mutation_p.A645D|FOXP1_ENST00000484350.1_Missense_Mutation_p.A569D|FOXP1_ENST00000468577.1_Missense_Mutation_p.A581D|FOXP1_ENST00000498215.1_Missense_Mutation_p.A645D|FOXP1_ENST00000493089.1_Missense_Mutation_p.A644D	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	645					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)	p.A645D(1)		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)		GGGCCCTTCAGCTTCCTCTGG	0.502			T	PAX5	ALL																																	uc003dol.2				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1933-1935)GCT>GAT		forkhead box P1 isoform 1							163.0	144.0	151.0					3																	71008498		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.chr3:71008498G>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.1934C>A	3.37:g.71008498G>T	ENSP00000318902:p.Ala645Asp					FOXP1_uc003dom.2_Missense_Mutation_p.A569D|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.A644D|FOXP1_uc003dop.2_Missense_Mutation_p.A645D|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.A545D|FOXP1_uc003doj.2_Missense_Mutation_p.A545D|FOXP1_uc003dok.2_Missense_Mutation_p.A458D	p.A645D	NM_032682	NP_116071	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)	17	2257	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	645					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1934C>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401004	0.04865	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.88818	-2.32;-2.32;-2.4;-2.43;-2.32;-2.32;-2.31;-2.12	6.16	5.22	0.72569	.	0.182573	0.56097	D	0.000025	T	0.67924	0.2945	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.15473	0.013;0.001;0.0	B;B;B	0.13407	0.009;0.001;0.0	T	0.68375	-0.5425	10	0.02654	T	1	.	14.2273	0.65868	0.0:0.0:0.7499:0.2501	.	644;569;645	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	D	645;457;645;541;647;644;645;569;581	ENSP00000318902:A645D;ENSP00000419393:A645D;ENSP00000418225:A541D;ENSP00000420736:A647D;ENSP00000418524:A644D;ENSP00000418102:A645D;ENSP00000417857:A569D;ENSP00000418883:A581D	ENSP00000318902:A645D	A	-	2	0	FOXP1	71091188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.239000	0.65371	2.937000	0.99478	0.650000	0.86243	GCT		PASS	0.502	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		47	63	47	63	---	---	---	---
GXYLT2	727936	broad.mit.edu	37	3	72957687	72957687	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:72957687C>G	ENST00000389617.4	+	2	606	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	149					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.L149V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TGAAGACTCTCTGAAGCCCGA	0.443																																						uc003dpg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CTG>GTG		glycosyltransferase 8 domain containing 4							70.0	71.0	71.0					3																	72957687		1941	4146	6087	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:72957687C>G	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.445C>G	3.37:g.72957687C>G	ENSP00000374268:p.Leu149Val						p.L149V	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			2	445	+			149			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.445C>G	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249738	0.59212	.	.	ENSG00000172986	ENST00000389617;ENST00000498315	T;T	0.36878	1.23;1.94	5.71	5.71	0.89125	.	0.152670	0.45361	D	0.000371	T	0.64193	0.2576	M	0.83012	2.62	0.58432	D	0.999998	D	0.64830	0.994	D	0.71414	0.973	T	0.60796	-0.7192	10	0.30078	T	0.28	.	19.8442	0.96702	0.0:1.0:0.0:0.0	.	149	A0PJZ3	GXLT2_HUMAN	V	149;23	ENSP00000374268:L149V;ENSP00000417239:L23V	ENSP00000374268:L149V	L	+	1	2	GXYLT2	73040377	0.998000	0.40836	0.831000	0.32960	0.854000	0.48673	3.677000	0.54619	2.696000	0.92011	0.655000	0.94253	CTG		PASS	0.443	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		16	20	16	20	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78795913	78795913	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:78795913C>T	ENST00000464233.1	-	5	750	c.637G>A	c.(637-639)Gat>Aat	p.D213N	ROBO1_ENST00000467549.1_Missense_Mutation_p.D174N|ROBO1_ENST00000436010.2_Missense_Mutation_p.D174N|ROBO1_ENST00000495273.1_Missense_Mutation_p.D174N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	213	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.D213N(2)|p.D174N(1)|p.D190N(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCATCTTTATCATCCAGTGGA	0.418																																						uc003dqe.2																			4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(637-639)GAT>AAT		roundabout 1 isoform a							116.0	114.0	115.0					3																	78795913		1868	4101	5969	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.chr3:78795913C>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.637G>A	3.37:g.78795913C>T	ENSP00000420321:p.Asp213Asn					ROBO1_uc003dqb.2_Missense_Mutation_p.D174N|ROBO1_uc003dqc.2_Missense_Mutation_p.D174N|ROBO1_uc003dqd.2_Missense_Mutation_p.D174N	p.D213N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	5	845	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	213			Extracellular (Potential).|Ig-like C2-type 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.637G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861781	0.71949	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	N	0.16233	0.39	0.58432	D	0.999999	D;D;D;P	0.76494	0.999;0.999;0.989;0.811	D;D;D;P	0.91635	0.981;0.999;0.955;0.564	T	0.69339	-0.5171	9	.	.	.	.	20.1133	0.97917	0.0:1.0:0.0:0.0	.	213;174;174;174	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	N	174;174;213;174;174;213	ENSP00000406043:D174N;ENSP00000420321:D213N;ENSP00000420637:D174N;ENSP00000417992:D174N	.	D	-	1	0	ROBO1	78878603	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.818000	0.86416	2.762000	0.94881	0.591000	0.81541	GAT		PASS	0.418	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		20	140	20	140	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868721	97868721	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:97868721C>G	ENST00000437310.1	+	1	552	c.492C>G	c.(490-492)ttC>ttG	p.F164L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F164L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATTTTTATTCAGACTAACCT	0.338																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(490-492)TTC>TTG		olfactory receptor, family 5, subfamily H,							94.0	97.0	96.0					3																	97868721		2202	4300	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868721C>G		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.492C>G	3.37:g.97868721C>G	ENSP00000401706:p.Phe164Leu						p.F164L	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	492	+			164			Helical; Name=4; (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.492C>G	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279774	0.10458	.	.	ENSG00000236032	ENST00000437310	T	0.00145	8.67	2.49	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	0.993065	0.08168	N	0.987381	T	0.00109	0.0003	L	0.33093	0.98	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.04509	-1.0946	10	0.37606	T	0.19	.	3.7994	0.08753	0.0:0.2498:0.2078:0.5424	.	164	A6NHG9	O5H14_HUMAN	L	164	ENSP00000401706:F164L	ENSP00000401706:F164L	F	+	3	2	OR5H14	99351411	0.001000	0.12720	0.015000	0.15790	0.004000	0.04260	0.000000	0.12993	-0.453000	0.07076	0.195000	0.17529	TTC		PASS	0.338	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			33	205	33	205	---	---	---	---
OR5K1	26339	broad.mit.edu	37	3	98189077	98189077	+	Silent	SNP	C	C	G	rs74372753	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:98189077C>G	ENST00000332650.5	+	1	754	c.657C>G	c.(655-657)ctC>ctG	p.L219L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L219L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATCTTATCTCTATATTCTTC	0.348																																						uc003dsm.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(655-657)CTC>CTG		olfactory receptor, family 5, subfamily K,							113.0	118.0	117.0					3																	98189077		2199	4297	6496	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189077C>G	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.657C>G	3.37:g.98189077C>G							p.L219L	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	657	+			219			Cytoplasmic (Potential).		B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.657C>G	CCDS43115.1																																																																																				PASS	0.348	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			10	164	10	164	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108298180	108298180	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:108298180C>T	ENST00000295746.8	-	7	842	c.766G>A	c.(766-768)Gac>Aac	p.D256N	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.D97N	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	256					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)		p.D256N(1)		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						ATCAGTAGGTCAACTGAATAC	0.328																																						uc003dxb.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(766-768)GAC>AAC		p90 autoantigen							99.0	110.0	106.0					3																	108298180		2203	4298	6501	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108298180C>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.766G>A	3.37:g.108298180C>T	ENSP00000295746:p.Asp256Asn					KIAA1524_uc003dxc.1_Missense_Mutation_p.D97N|KIAA1524_uc010hpw.1_Missense_Mutation_p.D97N	p.D256N	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			7	1035	-			256					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.766G>A	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115209	0.94339	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.50548	0.74;1.35	5.07	5.07	0.68467	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72001	-0.4422	10	0.87932	D	0	-12.7154	18.8213	0.92099	0.0:1.0:0.0:0.0	.	256	Q8TCG1	CIP2A_HUMAN	N	97;256	ENSP00000419487:D97N;ENSP00000295746:D256N	ENSP00000295746:D256N	D	-	1	0	KIAA1524	109780870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.528000	0.85240	0.650000	0.86243	GAC		PASS	0.328	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		30	173	30	173	---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110831075	110831075	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:110831075G>C	ENST00000485303.1	+	2	634	c.359G>C	c.(358-360)aGa>aCa	p.R120T	PVRL3_ENST00000319792.3_Missense_Mutation_p.R120T|PVRL3_ENST00000493615.1_Missense_Mutation_p.R97T|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	120	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.R120T(1)|p.R97T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATCAGGGAAGAGTCTTGTTT	0.373																																						uc003dxt.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)	2						c.(358-360)AGA>ACA		poliovirus receptor-related 3 precursor							115.0	110.0	112.0					3																	110831075		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110831075G>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.359G>C	3.37:g.110831075G>C	ENSP00000418070:p.Arg120Thr					PVRL3_uc003dxu.1_Missense_Mutation_p.R97T	p.R120T	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			2	359	+			120			Extracellular (Potential).|Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.359G>C	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.571352|4.571352	0.86542|0.86542	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000486596|ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	.|T;T;T;T;T	.|0.70986	.|-0.53;-0.53;-0.53;-0.53;-0.53	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.046654	.|0.85682	.|D	.|0.000000	D|D	0.85155|0.85155	0.5632|0.5632	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.77557	.|0.99;0.961	D|D	0.86420|0.86420	0.1754|0.1754	5|10	.|0.87932	.|D	.|0	.|.	17.649|17.649	0.88157|0.88157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|97;120	.|E9PFR0;Q9NQS3	.|.;PVRL3_HUMAN	N|T	119|73;120;120;97;105	.|ENSP00000418327:R73T;ENSP00000418070:R120T;ENSP00000321514:R120T;ENSP00000420579:R97T;ENSP00000420479:R105T	.|ENSP00000321514:R120T	K|R	+|+	3|2	2|0	PVRL3|PVRL3	112313765|112313765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.211000|3.211000	0.51137|0.51137	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	AAG|AGA		PASS	0.373	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		14	113	14	113	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113528274	113528274	+	Nonstop_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:113528274G>C	ENST00000273398.3	+	15	1962	c.1854G>C	c.(1852-1854)taG>taC	p.*618Y	ATP6V1A_ENST00000538620.1_Nonstop_Mutation_p.*585Y|ATP6V1A_ENST00000461496.1_3'UTR	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	0					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)	p.*618Y(1)		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)	TTGAAGATTAGAAGCCTTGAA	0.393																																						uc003eao.2																			1	Nonstop extension(1)		lung(1)	ovary(2)|skin(1)	3						c.(1852-1854)TAG>TAC		ATPase, H+ transporting, lysosomal V1 subunit A							92.0	87.0	89.0					3																	113528274		2203	4300	6503	SO:0001578	stop_lost	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.chr3:113528274G>C	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.1854G>C	3.37:g.113528274G>C	ENSP00000273398:p.*618Tyrext*3					ATP6V1A_uc011bik.1_Nonstop_Mutation_p.*585Y	p.*618Y	NM_001690	NP_001681	P38606	VATA_HUMAN			15	1920	+			618					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Nonstop_Mutation	SNP	ENST00000273398.3	37	c.1854G>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610285	0.66558	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4414	0.55627	0.0767:0.0:0.9233:0.0	.	.	.	.	Y	335;618;585	.	.	X	+	3	2	ATP6V1A	115010964	0.998000	0.40836	1.000000	0.80357	0.918000	0.54935	0.935000	0.28924	2.507000	0.84556	0.455000	0.32223	TAG		PASS	0.393	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		9	79	9	79	---	---	---	---
KIAA1407	57577	broad.mit.edu	37	3	113761652	113761652	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:113761652G>C	ENST00000295878.3	-	4	459	c.313C>G	c.(313-315)Caa>Gaa	p.Q105E	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'Flank	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	105								p.Q105E(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTAATTCTTGCTTAAGTTTG	0.363																																						uc003eax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(313-315)CAA>GAA		hypothetical protein LOC57577							165.0	139.0	148.0					3																	113761652		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113761652G>C	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.313C>G	3.37:g.113761652G>C	ENSP00000295878:p.Gln105Glu					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q83E|KIAA1407_uc011bip.1_Missense_Mutation_p.Q92E	p.Q105E	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			4	460	-			105					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.313C>G	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286799	0.40494	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.42131	1.59;0.98	4.61	1.47	0.22746	.	0.490245	0.20703	N	0.087226	T	0.33789	0.0875	L	0.51422	1.61	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.003	T	0.14172	-1.0482	10	0.32370	T	0.25	.	10.2709	0.43483	0.0:0.1292:0.6062:0.2646	.	92;105	C9JA89;Q8NCU4	.;K1407_HUMAN	E	105;92;69	ENSP00000295878:Q105E;ENSP00000418099:Q92E	ENSP00000295878:Q105E	Q	-	1	0	KIAA1407	115244342	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.676000	0.46883	0.624000	0.30286	0.591000	0.81541	CAA		PASS	0.363	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		42	128	42	128	---	---	---	---
GSK3B	2932	broad.mit.edu	37	3	119562180	119562180	+	Silent	SNP	G	G	A	rs376972717		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:119562180G>A	ENST00000264235.8	-	10	2099	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	GSK3B_ENST00000316626.5_Silent_p.L386L|GSK3B_ENST00000473886.1_Intron	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	373					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)	p.L386L(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATGGTAGCCAGAGGTGGATTA	0.413																																						uc003edo.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)	2						c.(1117-1119)CTG>TTG		glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)						97.0	96.0	96.0					3																	119562180		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:119562180G>A	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.1117C>T	3.37:g.119562180G>A						GSK3B_uc003edn.2_Silent_p.L386L|GSK3B_uc003edm.2_Intron	p.L373L	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	10	2100	-			373					D3DN89|Q9BWH3|Q9UL47	Silent	SNP	ENST00000264235.8	37	c.1117C>T	CCDS54628.1																																																																																				PASS	0.413	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			6	77	6	77	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121207343	121207343	+	Missense_Mutation	SNP	G	G	A	rs149344067		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:121207343G>A	ENST00000264233.5	-	16	4563	c.4435C>T	c.(4435-4437)Cct>Tct	p.P1479S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1479					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.P1614S(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)		CTTGTTTCAGGAACTGGAAGA	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4435-4437)CCT>TCT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta		G	SER/PRO	0,4406		0,0,2203	81.0	82.0	82.0		4435	-0.1	0.2	3	dbSNP_134	82	1,8593	1.2+/-3.3	0,1,4296	no	missense	POLQ	NM_199420.3	74	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1479/2591	121207343	1,12999	2203	4297	6500	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.chr3:121207343G>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.4435C>T	3.37:g.121207343G>A	ENSP00000264233:p.Pro1479Ser					POLQ_uc003eed.2_Missense_Mutation_p.P651S	p.P1479S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4564	-			1479					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4435C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.383185	0.01194	0.0	1.16E-4	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.46063	0.88	5.74	-0.0617	0.13784	.	0.847902	0.10752	N	0.638171	T	0.22282	0.0537	N	0.20986	0.625	0.09310	N	1	B;B	0.24823	0.024;0.112	B;B	0.20955	0.009;0.032	T	0.27468	-1.0073	10	0.10377	T	0.69	.	6.1185	0.20139	0.5516:0.0:0.32:0.1284	.	1479;651	O75417;O75417-2	DPOLQ_HUMAN;.	S	1102;1479;1615	ENSP00000264233:P1479S	ENSP00000264233:P1479S	P	-	1	0	POLQ	122690033	0.564000	0.26602	0.152000	0.22495	0.602000	0.36980	0.390000	0.20768	0.047000	0.15862	-0.136000	0.14681	CCT		PASS	0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		13	139	13	139	---	---	---	---
EAF2	55840	broad.mit.edu	37	3	121591497	121591497	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:121591497G>A	ENST00000273668.2	+	5	669	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	EAF2_ENST00000451944.2_Missense_Mutation_p.E200K	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	200	Necessary for transactivation activity.|Ser-rich.				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)	p.E200K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTCAGAAGATGAAGATTGCAA	0.398																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	uc003een.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GAA>AAA		ELL associated factor 2							119.0	113.0	115.0					3																	121591497		2203	4300	6503	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121591497G>A	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.598G>A	3.37:g.121591497G>A	ENSP00000273668:p.Glu200Lys					EAF2_uc003eeo.2_Missense_Mutation_p.E70K	p.E200K	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	5	697	+			200			Ser-rich.|Necessary for transactivation activity.		Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.598G>A	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174693	0.57692	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.75	4.75	0.60458	.	0.300529	0.36972	N	0.002310	T	0.63885	0.2549	M	0.77103	2.36	0.58432	D	0.999993	P	0.35745	0.518	B	0.35182	0.197	T	0.67397	-0.5681	9	0.41790	T	0.15	-6.7001	15.2673	0.73672	0.0:0.0:1.0:0.0	.	200	Q96CJ1	EAF2_HUMAN	K	200	.	ENSP00000273668:E200K	E	+	1	0	EAF2	123074187	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	7.397000	0.79903	2.460000	0.83146	0.313000	0.20887	GAA		PASS	0.398	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		17	169	17	169	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122255105	122255105	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:122255105C>G	ENST00000360356.2	-	10	2322	c.2095G>C	c.(2095-2097)Gtg>Ctg	p.V699L	PARP9_ENST00000471785.1_Missense_Mutation_p.V664L|PARP9_ENST00000492382.1_Missense_Mutation_p.V244L|PARP9_ENST00000477522.2_Missense_Mutation_p.V664L|PARP9_ENST00000462315.1_Missense_Mutation_p.V664L	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	699	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)	p.V699L(1)		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)		CTATGGCTCACAGGTTGCCTG	0.443																																						uc010hri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(2095-2097)GTG>CTG		poly (ADP-ribose) polymerase family, member 9							185.0	161.0	169.0					3																	122255105		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122255105C>G	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.2095G>C	3.37:g.122255105C>G	ENSP00000353512:p.Val699Leu					PARP9_uc003eff.3_Missense_Mutation_p.V664L|PARP9_uc011bjs.1_Missense_Mutation_p.V664L|PARP9_uc003efg.2_Missense_Mutation_p.V244L|PARP9_uc003efi.2_Missense_Mutation_p.V664L|PARP9_uc003efh.2_Missense_Mutation_p.V699L|PARP9_uc003efj.2_Missense_Mutation_p.V664L	p.V699L	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	10	2240	-			699			PARP catalytic.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.2095G>C	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	5.803	0.332377	0.10956	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17691	3.14;2.83;3.0;3.0;2.26	5.12	4.25	0.50352	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.598092	0.14994	N	0.286531	T	0.28928	0.0718	M	0.69823	2.125	0.21897	N	0.999483	B;D;B;P	0.62365	0.386;0.991;0.379;0.521	B;P;B;B	0.53689	0.052;0.732;0.134;0.111	T	0.11690	-1.0577	10	0.16896	T	0.51	.	11.1456	0.48428	0.0:0.9137:0.0:0.0863	.	664;699;244;664	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	L	699;244;664;664;622;664	ENSP00000353512:V699L;ENSP00000417664:V244L;ENSP00000419506:V664L;ENSP00000419001:V664L;ENSP00000418894:V664L	ENSP00000353512:V699L	V	-	1	0	PARP9	123737795	0.000000	0.05858	0.934000	0.37439	0.147000	0.21601	-0.043000	0.12043	1.526000	0.49068	0.650000	0.86243	GTG		PASS	0.443	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		42	125	42	125	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122274371	122274371	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:122274371C>T	ENST00000360356.2	-	4	979	c.752G>A	c.(751-753)tGt>tAt	p.C251Y	PARP9_ENST00000471785.1_Missense_Mutation_p.C216Y|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.C216Y|PARP9_ENST00000462315.1_Missense_Mutation_p.C216Y	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	251	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)	p.C251Y(1)		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)		AGTCTTTGTACACAAATTCAG	0.383																																						uc010hri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(751-753)TGT>TAT		poly (ADP-ribose) polymerase family, member 9							101.0	103.0	102.0					3																	122274371		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122274371C>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.752G>A	3.37:g.122274371C>T	ENSP00000353512:p.Cys251Tyr					PARP9_uc003eff.3_Missense_Mutation_p.C216Y|PARP9_uc011bjs.1_Missense_Mutation_p.C216Y|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.C216Y|PARP9_uc003efh.2_Missense_Mutation_p.C251Y|PARP9_uc003efj.2_Missense_Mutation_p.C216Y	p.C251Y	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	4	897	-			251			Macro 1.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.752G>A	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282341	0.59867	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.49	5.49	0.81192	Appr-1-p processing (3);	0.000000	0.56097	D	0.000025	T	0.54143	0.1840	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.59679	-0.7409	10	0.87932	D	0	.	18.1171	0.89559	0.0:1.0:0.0:0.0	.	216;251;216	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	Y	251;216;216;174;216	ENSP00000353512:C251Y;ENSP00000419506:C216Y;ENSP00000419001:C216Y;ENSP00000418894:C216Y	ENSP00000353512:C251Y	C	-	2	0	PARP9	123757061	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	5.900000	0.69853	2.865000	0.98341	0.655000	0.94253	TGT		PASS	0.383	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		11	179	11	179	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122411176	122411176	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:122411176C>G	ENST00000474629.2	+	4	650	c.384C>G	c.(382-384)ctC>ctG	p.L128L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	128					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)	p.L128L(1)		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)		ATACAAAACTCCCTCTTGATG	0.368																																						uc003efq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(382-384)CTC>CTG		poly (ADP-ribose) polymerase family, member 14							114.0	112.0	112.0					3																	122411176		1860	4092	5952	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122411176C>G	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.384C>G	3.37:g.122411176C>G							p.L128L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	4	443	+			128					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.384C>G	CCDS46894.1																																																																																				PASS	0.368	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		21	102	21	102	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124748078	124748078	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:124748078C>T	ENST00000311127.4	-	2	638	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	191					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)	p.E191K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTGCTATCTCCAGTGAGTAC	0.478																																						uc003ehs.3																			1	Substitution - Missense(1)	p.E191E(1)	lung(1)	ovary(2)	2						c.(571-573)GAG>AAG		HEG homolog 1 precursor							69.0	72.0	71.0					3																	124748078		2005	4203	6208	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124748078C>T	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.571G>A	3.37:g.124748078C>T	ENSP00000311502:p.Glu191Lys					HEG1_uc011bke.1_Missense_Mutation_p.E191K	p.E191K	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			2	639	-			191			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.571G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518909	0.27211	.	.	ENSG00000173706	ENST00000311127	T	0.47869	0.83	5.38	3.58	0.41010	.	.	.	.	.	T	0.29126	0.0724	N	0.12182	0.205	0.09310	N	1	B;B	0.23377	0.084;0.051	B;B	0.18561	0.022;0.01	T	0.20009	-1.0288	9	0.59425	D	0.04	.	8.4897	0.33093	0.0:0.8239:0.0:0.1761	.	191;191	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	K	191	ENSP00000311502:E191K	ENSP00000311502:E191K	E	-	1	0	HEG1	126230768	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	0.725000	0.25970	0.814000	0.34374	0.655000	0.94253	GAG		PASS	0.478	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		6	45	6	45	---	---	---	---
OSBPL11	114885	broad.mit.edu	37	3	125257330	125257330	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:125257330C>T	ENST00000296220.5	-	11	2278	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	663					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.V663V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCAGAGGTCTCACTCTTTTCT	0.428																																						uc003eic.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|kidney(1)	5						c.(1987-1989)GTG>GTA		oxysterol binding protein-like 11							319.0	275.0	290.0					3																	125257330		2203	4300	6503	SO:0001819	synonymous_variant	114885				lipid transport		lipid binding	g.chr3:125257330C>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.1989G>A	3.37:g.125257330C>T							p.V663V	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			11	2726	-			663					A8K9I7	Silent	SNP	ENST00000296220.5	37	c.1989G>A	CCDS3033.1																																																																																				PASS	0.428	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		12	394	12	394	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126180755	126180755	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:126180755G>A	ENST00000389709.3	-	6	1803	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F	ZXDC_ENST00000336332.5_Missense_Mutation_p.L584F	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	584	Required for transcriptional activation.				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)	p.L584F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GCTGTCCCGAGAACCAGAGGG	0.597																																						uc003eiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1750-1752)CTC>TTC		ZXD family zinc finger C isoform 1							59.0	66.0	64.0					3																	126180755		2088	4244	6332	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.chr3:126180755G>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.1750C>T	3.37:g.126180755G>A	ENSP00000374359:p.Leu584Phe					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.L584F	p.L584F	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1804	-			584			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1750C>T	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	5.157	0.214562	0.09810	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.09723	2.95;2.95	4.99	4.12	0.48240	.	0.297043	0.28442	N	0.015331	T	0.12689	0.0308	L	0.36672	1.1	0.09310	N	0.999997	P;P	0.48016	0.904;0.839	P;P	0.48921	0.595;0.448	T	0.13683	-1.0500	10	0.16420	T	0.52	-7.9135	12.9164	0.58209	0.0:0.0:0.8362:0.1638	.	584;584	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	F	584	ENSP00000374359:L584F;ENSP00000337694:L584F	ENSP00000337694:L584F	L	-	1	0	ZXDC	127663445	0.989000	0.36119	0.030000	0.17652	0.303000	0.27691	2.383000	0.44354	1.224000	0.43551	-0.230000	0.12252	CTC		PASS	0.597	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		14	163	14	163	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127327758	127327758	+	Silent	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:127327758A>G	ENST00000265056.7	+	8	1564	c.1320A>G	c.(1318-1320)ctA>ctG	p.L440L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	440					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.L440L(1)		ovary(3)|skin(2)|stomach(1)	6						CTGTCATCCTAGCCAACCACG	0.527																																						uc003ejp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1318-1320)CTA>CTG		minichromosome maintenance complex component 2							173.0	148.0	156.0					3																	127327758		2203	4300	6503	SO:0001819	synonymous_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.chr3:127327758A>G	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.1320A>G	3.37:g.127327758A>G						MCM2_uc011bkm.1_Silent_p.L310L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L324L	p.L440L	NM_004526	NP_004517	P49736	MCM2_HUMAN			8	1377	+			440					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1320A>G	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	A	9.623	1.134239	0.21123	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.25	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.2083	4.1518	0.10242	0.1782:0.0:0.4986:0.3232	.	.	.	.	W	303	.	.	X	+	2	0	MCM2	128810448	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.319000	0.43788	0.169000	0.19679	-0.202000	0.12741	TAG		PASS	0.527	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			66	167	66	167	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129286443	129286443	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:129286443G>A	ENST00000324093.4	-	22	4156	c.3978C>T	c.(3976-3978)ttC>ttT	p.F1326F	PLXND1_ENST00000393239.1_Silent_p.F1326F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1326					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)	p.F1326F(1)	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						GCAGCTCAGCGAAGCCTGGCG	0.622																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(3976-3978)TTC>TTT		plexin D1 precursor							64.0	52.0	56.0					3																	129286443		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129286443G>A	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.3978C>T	3.37:g.129286443G>A						PLXND1_uc011blb.1_5'UTR	p.F1326F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			22	4078	-			1326			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3978C>T	CCDS33854.1																																																																																				PASS	0.622	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	55	3	55	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129389306	129389306	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:129389306C>G	ENST00000393238.3	-	4	1718	c.1378G>C	c.(1378-1380)Gat>Cat	p.D460H	TMCC1_ENST00000426664.2_Missense_Mutation_p.D346H|TMCC1_ENST00000432054.2_Missense_Mutation_p.D136H|TMCC1_ENST00000329333.5_Missense_Mutation_p.D281H	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	460						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D460H(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGTAGTGCATCAAATCCTGAG	0.517																																						uc003emz.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1378-1380)GAT>CAT		transmembrane and coiled-coil domain family 1							117.0	111.0	113.0					3																	129389306		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389306C>G	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.1378G>C	3.37:g.129389306C>G	ENSP00000376930:p.Asp460His					TMCC1_uc003emy.3_Missense_Mutation_p.D136H|TMCC1_uc011blc.1_Missense_Mutation_p.D281H|TMCC1_uc010htg.2_Missense_Mutation_p.D346H	p.D460H	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			5	1879	-			460			Potential.		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1378G>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480606	0.63849	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.50333	1.59	0.80722	D	1	B;B	0.27450	0.179;0.065	B;B	0.40477	0.33;0.078	T	0.49808	-0.8900	10	0.52906	T	0.07	-11.497	19.424	0.94734	0.0:1.0:0.0:0.0	.	281;460	B4DE04;O94876	.;TMCC1_HUMAN	H	136;460;346;281	ENSP00000404711:D136H;ENSP00000376930:D460H;ENSP00000389892:D346H;ENSP00000327349:D281H	ENSP00000327349:D281H	D	-	1	0	TMCC1	130871996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.668000	0.90789	0.591000	0.81541	GAT		PASS	0.517	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		20	199	20	199	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130293257	130293257	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:130293257C>T	ENST00000358511.6	+	7	3466	c.3435C>T	c.(3433-3435)ctC>ctT	p.L1145L	COL6A6_ENST00000453409.2_Silent_p.L1145L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1145	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L1145L(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						ACCAGCAGCTCATTCAGATCA	0.532																																						uc010htl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3433-3435)CTC>CTT		collagen type VI alpha 6 precursor							64.0	69.0	68.0					3																	130293257		2011	4168	6179	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130293257C>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.3435C>T	3.37:g.130293257C>T							p.L1145L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3466	+			1145			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.3435C>T	CCDS46911.1																																																																																				PASS	0.532	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		7	99	7	99	---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132324026	132324026	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:132324026G>A	ENST00000264990.6	-	12	2409	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y	ACAD11_ENST00000355458.3_Missense_Mutation_p.H480Y|ACAD11_ENST00000545291.1_Missense_Mutation_p.H5Y	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	480					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)	p.H480Y(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCATACAGGTGCAGAACCTCC	0.393																																						uc003eov.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1438-1440)CAC>TAC		putative acyl-CoA dehydrogenase							177.0	167.0	171.0					3																	132324026		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132324026G>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.1438C>T	3.37:g.132324026G>A	ENSP00000264990:p.His480Tyr					ACAD11_uc011blr.1_Missense_Mutation_p.H91Y	p.H480Y	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			12	1818	-			480					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1438C>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138187	0.77775	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.99695	-6.43;-6.43;-5.15	4.95	4.07	0.47477	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99560	0.9842	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98776	1.0730	9	0.33141	T	0.24	.	15.3168	0.74085	0.0:0.1405:0.8595:0.0	.	480	Q709F0	ACD11_HUMAN	Y	480;480;5	ENSP00000347636:H480Y;ENSP00000264990:H480Y;ENSP00000446263:H5Y	ENSP00000264990:H480Y	H	-	1	0	ACAD11	133806716	1.000000	0.71417	0.874000	0.34290	0.862000	0.49288	6.411000	0.73298	1.051000	0.40369	0.655000	0.94253	CAC		PASS	0.393	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		32	104	32	104	---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133525544	133525544	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:133525544C>T	ENST00000466490.2	+	3	531	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	82					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)	p.V82V(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						TGCTCTTTGTCAGGGTAAATG	0.408																																						uc003epx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(244-246)GTC>GTT		signal recognition particle receptor, beta							160.0	149.0	153.0					3																	133525544		2203	4300	6503	SO:0001819	synonymous_variant	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133525544C>T	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.246C>T	3.37:g.133525544C>T							p.V82V	NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN			2	262	+			82					Q6P595|Q8N2D8	Silent	SNP	ENST00000466490.2	37	c.246C>T	CCDS3081.1																																																																																				PASS	0.408	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			16	129	16	129	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136117636	136117636	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:136117636C>T	ENST00000383202.2	-	22	2488	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S	STAG1_ENST00000434713.2_Silent_p.S518S|STAG1_ENST00000536929.1_Silent_p.S328S|STAG1_ENST00000236698.5_Silent_p.S744S	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	744					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)	p.S744S(1)		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						GCCAAAGAATCGAATAATGGG	0.338																																						uc003era.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2230-2232)TCG>TCA		stromal antigen 1							74.0	73.0	74.0					3																	136117636		2203	4300	6503	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.chr3:136117636C>T	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.2232G>A	3.37:g.136117636C>T						STAG1_uc003erb.1_Silent_p.S744S|STAG1_uc003erc.1_Silent_p.S518S	p.S744S	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			22	2524	-			744					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.2232G>A	CCDS3090.1																																																																																				PASS	0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		4	97	4	97	---	---	---	---
ARMC8	25852	broad.mit.edu	37	3	138009477	138009477	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:138009477G>A	ENST00000469044.1	+	21	2255	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	ARMC8_ENST00000485396.1_Missense_Mutation_p.D589N|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.D595N|ARMC8_ENST00000481646.1_Missense_Mutation_p.D648N|ARMC8_ENST00000393058.3_Missense_Mutation_p.D652N|NME9_ENST00000536478.1_Intron|NME9_ENST00000383180.2_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.D631N|ARMC8_ENST00000491704.1_Missense_Mutation_p.D620N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	662								p.D648N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AAACCTTTGTGACAAGTGAGT	0.393																																						uc003esa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1942-1944)GAC>AAC		armadillo repeat containing 8 isoform 2							67.0	62.0	64.0					3																	138009477		1896	4111	6007	SO:0001583	missense	25852						binding	g.chr3:138009477G>A		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.1984G>A	3.37:g.138009477G>A	ENSP00000419413:p.Asp662Asn					TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.D631N|ARMC8_uc011bmg.1_Missense_Mutation_p.D595N|ARMC8_uc011bmh.1_Missense_Mutation_p.D589N|ARMC8_uc003esb.1_Missense_Mutation_p.D620N|ARMC8_uc003esc.1_Missense_Mutation_p.D420N|ARMC8_uc003esf.1_Missense_Mutation_p.D231N	p.D648N	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			22	2309	+			662			ARM 14.		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1942G>A		.	.	.	.	.	.	.	.	.	.	G	27.4	4.831366	0.91036	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;0.72;0.72;0.72;-0.06	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.048766	0.85682	D	0.000000	T	0.71230	0.3315	L	0.41236	1.265	0.80722	D	1	P;D;P;D;P	0.69078	0.8;0.997;0.933;0.993;0.933	B;D;P;D;P	0.77004	0.177;0.989;0.629;0.956;0.629	T	0.69960	-0.5003	10	0.37606	T	0.19	-3.4195	15.834	0.78782	0.0:0.0:1.0:0.0	.	589;595;631;662;648	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	N	648;662;620;595;589;631;652;519	ENSP00000420333:D648N;ENSP00000419413:D662N;ENSP00000417304:D620N;ENSP00000420706:D595N;ENSP00000417049:D589N;ENSP00000441592:D631N;ENSP00000376778:D652N	ENSP00000376778:D652N	D	+	1	0	ARMC8	139492167	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.281000	0.95811	2.305000	0.77605	0.442000	0.29010	GAC		PASS	0.393	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		3	16	3	16	---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138117390	138117390	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:138117390G>C	ENST00000289104.4	+	4	1074	c.427G>C	c.(427-429)Gaa>Caa	p.E143Q	MRAS_ENST00000423968.2_Missense_Mutation_p.E143Q|MRAS_ENST00000474559.1_Missense_Mutation_p.E143Q|MRAS_ENST00000464896.1_Missense_Mutation_p.E67Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	143					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.E143Q(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCAAGGAAAAGAAATGGCGAC	0.507																																						uc003esh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(427-429)GAA>CAA		muscle RAS oncogene homolog precursor							138.0	124.0	129.0					3																	138117390		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138117390G>C	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.427G>C	3.37:g.138117390G>C	ENSP00000289104:p.Glu143Gln					MRAS_uc011bmi.1_Missense_Mutation_p.E67Q|MRAS_uc003esi.3_Missense_Mutation_p.E143Q|MRAS_uc011bmj.1_Missense_Mutation_p.E67Q	p.E143Q	NM_012219	NP_036351	O14807	RASM_HUMAN			4	988	+			143					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.427G>C	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817591	0.50633	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.044186	0.85682	D	0.000000	T	0.74261	0.3693	L	0.42744	1.35	0.80722	D	1	P	0.39883	0.693	B	0.43331	0.416	T	0.72757	-0.4197	10	0.29301	T	0.29	.	15.1511	0.72700	0.0:0.0:1.0:0.0	.	143	O14807	RASM_HUMAN	Q	143;143;67;67;143	ENSP00000289104:E143Q;ENSP00000389682:E143Q;ENSP00000417685:E67Q;ENSP00000419582:E67Q;ENSP00000418356:E143Q	ENSP00000289104:E143Q	E	+	1	0	MRAS	139600080	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.521000	0.98029	2.149000	0.67028	0.561000	0.74099	GAA		PASS	0.507	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			30	127	30	127	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138433508	138433508	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:138433508G>A	ENST00000477593.1	-	8	1177	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	PIK3CB_ENST00000544716.1_5'Flank|PIK3CB_ENST00000289153.2_Silent_p.I368I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	368	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.I368I(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTGAGCTTACGATGGTTTTAC	0.373																																						uc011bmq.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1102-1104)ATC>ATT		catalytic phosphatidylinositol 3-kinase beta							138.0	140.0	139.0					3																	138433508		2203	4300	6503	SO:0001819	synonymous_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.chr3:138433508G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1104C>T	3.37:g.138433508G>A						PIK3CB_uc011bmo.1_5'UTR|PIK3CB_uc011bmp.1_5'UTR	p.I368I	NM_006219	NP_006210	P42338	PK3CB_HUMAN			7	1104	-			368			C2 PI3K-type.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.1104C>T	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	7.779	0.709157	0.15239	.	.	ENSG00000051382	ENST00000493568;ENST00000462294	.	.	.	5.62	-6.25	0.02039	.	.	.	.	.	T	0.36138	0.0956	.	.	.	0.48901	D	0.999726	.	.	.	.	.	.	T	0.39742	-0.9599	4	.	.	.	-3.7328	2.3973	0.04393	0.461:0.0831:0.2078:0.2481	.	.	.	.	L	17;179	.	.	S	-	2	0	PIK3CB	139916198	0.049000	0.20398	0.001000	0.08648	0.912000	0.54170	-0.597000	0.05713	-0.967000	0.03582	-0.140000	0.14226	TCG		PASS	0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			32	296	32	296	---	---	---	---
GK5	256356	broad.mit.edu	37	3	141900354	141900354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:141900354C>A	ENST00000392993.2	-	11	1148	c.997G>T	c.(997-999)Gaa>Taa	p.E333*		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	333					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.E333*(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GCATTGCTTTCAGCTAAGCAT	0.378																																						uc003euq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(997-999)GAA>TAA		glycerol kinase 5 (putative)							115.0	107.0	110.0					3																	141900354		2203	4300	6503	SO:0001587	stop_gained	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141900354C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.997G>T	3.37:g.141900354C>A	ENSP00000418001:p.Glu333*					GK5_uc003eup.1_Nonsense_Mutation_p.E54*|GK5_uc010hus.1_RNA	p.E333*	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN			11	1128	-			333					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Nonsense_Mutation	SNP	ENST00000392993.2	37	c.997G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	39	7.474614	0.98306	.	.	ENSG00000175066	ENST00000392993	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8966	17.2688	0.87095	0.0:1.0:0.0:0.0	.	.	.	.	X	333	.	ENSP00000418001:E333X	E	-	1	0	GK5	143383044	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.763000	0.74955	2.415000	0.81967	0.591000	0.81541	GAA		PASS	0.378	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		14	156	14	156	---	---	---	---
PCOLCE2	26577	broad.mit.edu	37	3	142542385	142542385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:142542385G>C	ENST00000295992.3	-	7	1244	c.938C>G	c.(937-939)tCa>tGa	p.S313*	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	313	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)	p.S313*(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAAGTCACTTGAACAATAATT	0.393																																						uc003evd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(937-939)TCA>TGA		procollagen C-endopeptidase enhancer 2							76.0	81.0	79.0					3																	142542385		2203	4300	6503	SO:0001587	stop_gained	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142542385G>C	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.938C>G	3.37:g.142542385G>C	ENSP00000295992:p.Ser313*						p.S313*	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			7	1134	-			313			NTR.		B2RCH9|D3DNG4|Q9BRH3	Nonsense_Mutation	SNP	ENST00000295992.3	37	c.938C>G	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	39	7.795622	0.98495	.	.	ENSG00000163710	ENST00000295992	.	.	.	5.29	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-8.4827	13.3914	0.60827	0.0757:0.0:0.9243:0.0	.	.	.	.	X	313	.	ENSP00000295992:S313X	S	-	2	0	PCOLCE2	144025075	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	6.693000	0.74582	1.453000	0.47775	0.563000	0.77884	TCA		PASS	0.393	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		20	185	20	185	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142735215	142735215	+	Splice_Site	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:142735215T>G	ENST00000473835.2	+	5	526		c.e5+2		U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000397933.2_Splice_Site	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGCTAAAGGTAAGTTTATAA	0.373																																						uc003evh.1																			1	Unknown(1)		lung(1)		0						c.e5+2		U2-associated SR140 protein							122.0	120.0	120.0					3																	142735215		1849	4094	5943	SO:0001630	splice_region_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142735215T>G	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.436+2T>G	3.37:g.142735215T>G						SR140_uc003evi.1_Splice_Site|SR140_uc011bnj.1_Splice_Site_p.E146_splice|SR140_uc003evj.1_Splice_Site|SR140_uc003evk.1_Splice_Site_p.E146_splice	p.E146_splice	NM_001080415	NP_001073884	O15042	SR140_HUMAN			5	535	+								A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Splice_Site	SNP	ENST00000473835.2	37	c.436_splice	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966319	0.74131	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2473	0.82450	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2SURP	144217905	1.000000	0.71417	0.985000	0.45067	0.818000	0.46254	7.542000	0.82095	2.238000	0.73509	0.533000	0.62120	.		PASS	0.373	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	Intron	12	162	12	162	---	---	---	---
TM4SF1	4071	broad.mit.edu	37	3	149089577	149089577	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:149089577G>C	ENST00000305366.3	-	4	808	c.491C>G	c.(490-492)tCt>tGt	p.S164C	TM4SF1_ENST00000472441.1_Missense_Mutation_p.S75C	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	164						integral component of plasma membrane (GO:0005887)		p.S164C(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CAAGAGGATAGAAAACAGAGA	0.433																																						uc003exb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)TCT>TGT		transmembrane 4 superfamily member 1							129.0	117.0	121.0					3																	149089577		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149089577G>C	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.491C>G	3.37:g.149089577G>C	ENSP00000304277:p.Ser164Cys					TM4SF1_uc003exc.1_Missense_Mutation_p.S75C	p.S164C	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	725	-			164			Helical; (Probable).		Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.491C>G	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835716	0.71373	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	T;T	0.37915	1.17;1.17	5.92	5.04	0.67666	.	0.074494	0.56097	D	0.000024	T	0.59404	0.2191	M	0.72118	2.19	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.60551	-0.7241	10	0.62326	D	0.03	-14.3898	15.3881	0.74718	0.0675:0.0:0.9325:0.0	.	75;164	C9J611;P30408	.;T4S1_HUMAN	C	164;75;164	ENSP00000304277:S164C;ENSP00000417084:S75C	ENSP00000304277:S164C	S	-	2	0	TM4SF1	150572267	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	4.666000	0.61554	2.810000	0.96702	0.650000	0.86243	TCT		PASS	0.433	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			6	202	6	202	---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151012303	151012303	+	Nonsense_Mutation	SNP	G	G	C	rs79475431		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:151012303G>C	ENST00000260843.4	-	3	1195	c.731C>G	c.(730-732)tCa>tGa	p.S244*	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	244					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)	p.S244*(1)		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)			CTTTCGGCTTGACTGACTTAT	0.433																																						uc003eyt.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(730-732)TCA>TGA		G protein-coupled receptor 87							120.0	106.0	111.0					3																	151012303		2203	4300	6503	SO:0001587	stop_gained	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012303G>C	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.731C>G	3.37:g.151012303G>C	ENSP00000260843:p.Ser244*					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.S244*	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1092	-			244			Cytoplasmic (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Nonsense_Mutation	SNP	ENST00000260843.4	37	c.731C>G	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	39	7.461018	0.98299	.	.	ENSG00000138271	ENST00000260843	.	.	.	5.44	5.44	0.79542	.	0.179588	0.36134	N	0.002773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.8529	19.2312	0.93841	0.0:0.0:1.0:0.0	.	.	.	.	X	244	.	ENSP00000260843:S244X	S	-	2	0	GPR87	152494993	0.998000	0.40836	0.967000	0.41034	0.997000	0.91878	4.465000	0.60141	2.714000	0.92807	0.650000	0.86243	TCA		PASS	0.433	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			7	139	7	139	---	---	---	---
P2RY12	64805	broad.mit.edu	37	3	151056472	151056472	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:151056472C>G	ENST00000302632.3	-	3	461	c.162G>C	c.(160-162)cgG>cgC	p.R54R	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	54					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R54R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TTGATTTACTCCGGATTTGAA	0.378																																						uc003eyw.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(160-162)CGG>CGC		purinergic receptor P2Y12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						53.0	57.0	55.0					3																	151056472		2203	4300	6503	SO:0001819	synonymous_variant	64805				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056472C>G	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.162G>C	3.37:g.151056472C>G						MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_Silent_p.R54R|P2RY12_uc003eyx.1_Silent_p.R54R	p.R54R	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	378	-			54			Cytoplasmic (Potential).		D3DNJ5|Q546J7	Silent	SNP	ENST00000302632.3	37	c.162G>C	CCDS3159.1																																																																																				PASS	0.378	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			13	84	13	84	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151458563	151458563	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:151458563C>G	ENST00000356517.3	+	2	377	c.268C>G	c.(268-270)Cca>Gca	p.P90A		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	90						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.P90A(1)|p.P68A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGTTGACATTCCAGTACGATT	0.378																																						uc003ezc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(268-270)CCA>GCA		arylacetamide deacetylase-like 2 precursor							138.0	140.0	139.0					3																	151458563		2203	4300	6503	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151458563C>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.268C>G	3.37:g.151458563C>G	ENSP00000348911:p.Pro90Ala					AADACL2_uc010hvn.2_Intron	p.P90A	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	388	+			90					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.268C>G	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670544	0.47781	.	.	ENSG00000197953	ENST00000356517	T	0.59364	0.27	5.49	3.68	0.42216	.	0.470649	0.23627	N	0.046165	T	0.63474	0.2514	M	0.65975	2.015	0.19575	N	0.999969	P	0.49783	0.928	P	0.51701	0.677	T	0.56625	-0.7948	10	0.52906	T	0.07	1.1384	10.2176	0.43177	0.0:0.7876:0.1374:0.075	.	90	Q6P093	ADCL2_HUMAN	A	90	ENSP00000348911:P90A	ENSP00000348911:P90A	P	+	1	0	AADACL2	152941253	0.990000	0.36364	0.036000	0.18154	0.155000	0.21991	1.271000	0.33098	0.858000	0.35431	-0.282000	0.10007	CCA		PASS	0.378	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		13	189	13	189	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153943771	153943771	+	Missense_Mutation	SNP	G	G	A	rs377732491		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:153943771G>A	ENST00000356448.4	+	11	2346	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.D688N	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	688	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D688N(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TCTCTTTAACGATGTGCTCAT	0.398																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(2062-2064)GAT>AAT		Src homology 3 domain-containing guanine		G	ASN/ASP	1,3779		0,1,1889	100.0	88.0	92.0		2062	5.7	0.8	3		92	0,8220		0,0,4110	no	missense	ARHGEF26	NM_015595.3	23	0,1,5999	AA,AG,GG		0.0,0.0265,0.0083	probably-damaging	688/872	153943771	1,11999	1890	4110	6000	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153943771G>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.2062G>A	3.37:g.153943771G>A	ENSP00000348828:p.Asp688Asn					SGEF_uc011boh.1_Missense_Mutation_p.D688N|SGEF_uc011boi.1_5'UTR	p.D688N	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		11	2273	+			688			PH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.2062G>A	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306855	0.95629	2.65E-4	0.0	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.70164	-0.46;-0.46	5.65	5.65	0.86999	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84681	0.0717	10	0.87932	D	0	-26.7199	19.7363	0.96205	0.0:0.0:1.0:0.0	.	688;688	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	N	688	ENSP00000348828:D688N;ENSP00000423418:D688N	ENSP00000348828:D688N	D	+	1	0	ARHGEF26	155426461	1.000000	0.71417	0.793000	0.32043	0.890000	0.51754	9.731000	0.98807	2.652000	0.90054	0.650000	0.86243	GAT		PASS	0.398	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		7	110	7	110	---	---	---	---
MME	4311	broad.mit.edu	37	3	154834285	154834285	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:154834285A>G	ENST00000460393.1	+	5	496	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	MME_ENST00000493237.1_Missense_Mutation_p.K126E|MME_ENST00000360490.2_Missense_Mutation_p.K126E|MME_ENST00000492661.1_Missense_Mutation_p.K126E|MME_ENST00000462745.1_Missense_Mutation_p.K126E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	126					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)	p.K126E(1)		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)	TCAAGAACCCAAAACTGAAGA	0.318																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(376-378)AAA>GAA		membrane metallo-endopeptidase	Candoxatril(DB00616)						89.0	85.0	86.0					3																	154834285		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834285A>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.376A>G	3.37:g.154834285A>G	ENSP00000418525:p.Lys126Glu					MME_uc003fab.1_Missense_Mutation_p.K126E|MME_uc003fac.1_Missense_Mutation_p.K126E|MME_uc003fad.1_Missense_Mutation_p.K126E|MME_uc003fae.1_Missense_Mutation_p.K126E	p.K126E	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		5	587	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	126			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.376A>G	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993417	0.35131	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000481828;ENST00000462745;ENST00000493237;ENST00000360490;ENST00000462837	T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	6.16	3.76	0.43208	Peptidase M13 (1);	0.553819	0.20480	N	0.091516	T	0.47838	0.1467	N	0.10874	0.06	0.09310	N	1	B	0.23185	0.081	B	0.23716	0.048	T	0.29305	-1.0016	10	0.17369	T	0.5	-18.2343	8.9273	0.35648	0.8079:0.1275:0.0646:0.0	.	126	P08473	NEP_HUMAN	E	126	ENSP00000420389:K126E;ENSP00000418525:K126E;ENSP00000420101:K126E;ENSP00000419653:K126E;ENSP00000417079:K126E;ENSP00000353679:K126E;ENSP00000417595:K126E	ENSP00000353679:K126E	K	+	1	0	MME	156316979	0.001000	0.12720	0.075000	0.20258	0.933000	0.57130	1.292000	0.33342	0.547000	0.28938	0.528000	0.53228	AAA		PASS	0.318	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		20	94	20	94	---	---	---	---
CCNL1	57018	broad.mit.edu	37	3	156867907	156867907	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:156867907C>T	ENST00000295926.3	-	7	944	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CCNL1_ENST00000461804.1_Missense_Mutation_p.E276K|CCNL1_ENST00000479052.1_5'Flank	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	276	Cyclin-like 2.				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)		p.E276K(1)		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)			TGGATTTCCTCTTCTGTAGTA	0.358																																						uc003fbf.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|skin(1)	5						c.(826-828)GAG>AAG		cyclin L1							55.0	58.0	57.0					3																	156867907		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.chr3:156867907C>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.826G>A	3.37:g.156867907C>T	ENSP00000295926:p.Glu276Lys					CCNL1_uc003fbd.1_Missense_Mutation_p.E276K|CCNL1_uc003fbe.2_Missense_Mutation_p.E70K|CCNL1_uc003fbg.2_RNA|CCNL1_uc011bor.1_RNA|CCNL1_uc003fbi.1_Missense_Mutation_p.E121K	p.E276K	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		7	1425	-			276			Cyclin-like 2.		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.826G>A	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641016	0.87859	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.50277	0.75;0.75	5.75	5.75	0.90469	Cyclin-like (3);	0.047368	0.85682	D	0.000000	T	0.54095	0.1837	M	0.63169	1.94	0.80722	D	1	B;P	0.42871	0.409;0.792	B;B	0.43194	0.168;0.411	T	0.56679	-0.7939	10	0.56958	D	0.05	-16.5459	19.9598	0.97242	0.0:1.0:0.0:0.0	.	276;276	Q9UK58;C9JPL0	CCNL1_HUMAN;.	K	276	ENSP00000420277:E276K;ENSP00000295926:E276K	ENSP00000295926:E276K	E	-	1	0	CCNL1	158350601	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.656000	0.67988	2.716000	0.92895	0.655000	0.94253	GAG		PASS	0.358	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		6	148	6	148	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906446	164906446	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:164906446G>C	ENST00000475390.1	-	2	2616	c.2173C>G	c.(2173-2175)Cca>Gca	p.P725A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P725A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	725					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P725A(1)		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						GAAAGAGTTGGTCGaccacca	0.577										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(2173-2175)CCA>GCA		slit and trk like 3 protein precursor							78.0	59.0	65.0					3																	164906446		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906446G>C	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.2173C>G	3.37:g.164906446G>C	ENSP00000420091:p.Pro725Ala	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.P725A	p.P725A	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2617	-			725			Cytoplasmic (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2173C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	3.007	-0.204801	0.06180	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52057	0.68;0.68	5.0	3.17	0.36434	.	0.209020	0.24167	N	0.040931	T	0.32436	0.0829	N	0.22421	0.69	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.11542	-1.0583	10	0.15499	T	0.54	-4.9197	14.8605	0.70379	0.0:0.5539:0.4461:0.0	.	725	O94933	SLIK3_HUMAN	A	725	ENSP00000420091:P725A;ENSP00000241274:P725A	ENSP00000241274:P725A	P	-	1	0	SLITRK3	166389140	0.664000	0.27457	0.073000	0.20177	0.011000	0.07611	-0.538000	0.06120	0.777000	0.33496	-0.175000	0.13238	CCA		PASS	0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		60	69	60	69	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172098776	172098776	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:172098776G>A	ENST00000336824.4	+	25	3295	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E1066K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E1066K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1066	Fibronectin type-III 9. {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)	p.E1066K(1)		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)		AACACAGTTAGAAGGAAATTC	0.373																																						uc003fhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(3196-3198)GAA>AAA		fibronectin type III domain containing 3B							169.0	163.0	165.0					3																	172098776		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172098776G>A	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.3196G>A	3.37:g.172098776G>A	ENSP00000338523:p.Glu1066Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E1066K	p.E1066K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	25	3368	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1066			Fibronectin type-III 9.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3196G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427038	0.83667	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	6.07	6.07	0.98685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.041854	0.85682	D	0.000000	T	0.65760	0.2722	M	0.77103	2.36	0.80722	D	1	P	0.34699	0.464	B	0.43155	0.41	T	0.61628	-0.7024	10	0.37606	T	0.19	-26.5068	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1066	Q53EP0	FND3B_HUMAN	K	1066	ENSP00000411242:E1066K;ENSP00000338523:E1066K;ENSP00000389094:E1066K	ENSP00000338523:E1066K	E	+	1	0	FNDC3B	173581470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.885000	0.99019	0.655000	0.94253	GAA		PASS	0.373	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		8	310	8	310	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180671549	180671549	+	Splice_Site	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:180671549G>A	ENST00000357559.4	+	9	1185		c.e9-1		FXR1_ENST00000480918.1_Splice_Site|FXR1_ENST00000305586.7_Splice_Site|FXR1_ENST00000468861.1_Splice_Site|FXR1_ENST00000445140.2_Splice_Site|FXR1_ENST00000491062.1_Splice_Site	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1						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.?(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)			CTCATCTACAGAGTGCTGATG	0.363																																						uc003fkq.2																			1	Unknown(1)		lung(1)	breast(1)	1						c.e9-1		fragile X mental retardation-related protein 1							156.0	155.0	155.0					3																	180671549		2203	4300	6503	SO:0001630	splice_region_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180671549G>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.802-1G>A	3.37:g.180671549G>A						FXR1_uc003fkp.2_Splice_Site_p.S183_splice|FXR1_uc003fkr.2_Splice_Site_p.S268_splice|FXR1_uc011bqj.1_Splice_Site_p.S182_splice|FXR1_uc003fks.2_Splice_Site_p.S182_splice|FXR1_uc011bqk.1_Splice_Site_p.S219_splice|FXR1_uc011bql.1_Splice_Site_p.S255_splice	p.S268_splice	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		9	824	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)							A8K9B8|Q7Z450|Q8N6R8	Splice_Site	SNP	ENST00000357559.4	37	c.802_splice	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354802	0.82243	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6762	0.88232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FXR1	182154243	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.303000	0.78871	2.613000	0.88420	0.591000	0.81541	.		PASS	0.363	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		Intron	16	382	16	382	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183778074	183778074	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:183778074C>T	ENST00000318351.1	+	9	1312	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	426					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.L426L(1)		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)	ACACCCTGCTCTTCCGCCTCT	0.577																																						uc003fmk.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1276-1278)CTC>CTT		5-hydroxytryptamine receptor 3 subunit C							230.0	194.0	206.0					3																	183778074		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778074C>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.1278C>T	3.37:g.183778074C>T							p.L426L	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1312	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		426			Helical; Name=4; (Potential).		A2RRR5	Silent	SNP	ENST00000318351.1	37	c.1278C>T	CCDS3250.1																																																																																				PASS	0.577	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		20	497	20	497	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039636	184039636	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:184039636G>C	ENST00000346169.2	+	10	1535	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	EIF4G1_ENST00000382330.3_Missense_Mutation_p.E429Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E429Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E382Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E335Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E382Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E429Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E258Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E226Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E422Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E422Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E258Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E226Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E335Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	422					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)	p.E422Q(1)		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)			CAGTGAGCCAGAGGAGCAGGC	0.617																																						uc003fnp.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1264-1266)GAG>CAG		eukaryotic translation initiation factor 4							144.0	151.0	148.0					3																	184039636		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.chr3:184039636G>C	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.1264G>C	3.37:g.184039636G>C	ENSP00000316879:p.Glu422Gln					EIF4G1_uc003fno.1_Missense_Mutation_p.E363Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.E258Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.E133Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E335Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E258Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E382Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E422Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E422Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E429Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E226Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E226Q	p.E422Q	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1462	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		422					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1264G>C	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	8.891	0.953961	0.18431	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;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;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;1.19;-0.03	5.45	-0.972	0.10300	.	0.980070	0.08395	N	0.952318	T	0.43897	0.1268	L	0.29908	0.895	0.21579	N	0.999639	B;B;B;B	0.27823	0.099;0.002;0.19;0.0	B;B;B;B	0.24155	0.037;0.003;0.051;0.001	T	0.23332	-1.0191	10	0.20046	T	0.44	-3.3892	7.2544	0.26168	0.1383:0.3173:0.5445:0.0	.	429;422;422;429	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Q	422;382;335;422;429;429;363;258;429;335;422;422;429;382;258;258;226;226;226	ENSP00000316879:E422Q;ENSP00000391935:E382Q;ENSP00000376320:E335Q;ENSP00000391412:E422Q;ENSP00000413159:E429Q;ENSP00000371767:E429Q;ENSP00000403269:E363Q;ENSP00000317600:E258Q;ENSP00000338020:E429Q;ENSP00000407682:E335Q;ENSP00000343450:E422Q;ENSP00000323737:E422Q;ENSP00000416255:E429Q;ENSP00000395974:E382Q;ENSP00000398145:E258Q;ENSP00000399858:E258Q;ENSP00000411826:E226Q;ENSP00000399969:E226Q;ENSP00000404754:E226Q	ENSP00000323737:E422Q	E	+	1	0	EIF4G1	185522330	0.172000	0.23043	0.800000	0.32199	0.981000	0.71138	0.826000	0.27407	-0.032000	0.13758	0.563000	0.77884	GAG		PASS	0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		10	745	10	745	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186512450	186512450	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:186512450G>C	ENST00000392481.2	-	5	688	c.407C>G	c.(406-408)tCa>tGa	p.S136*	RFC4_ENST00000433496.1_Nonsense_Mutation_p.S136*|RFC4_ENST00000296273.2_Nonsense_Mutation_p.S136*	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	136					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)	p.S136*(1)		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)		TACTTACTCTGAGCGACTTCC	0.373																																						uc003fqz.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(406-408)TCA>TGA		replication factor C 4							141.0	136.0	138.0					3																	186512450		2203	4300	6503	SO:0001587	stop_gained	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.chr3:186512450G>C		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.407C>G	3.37:g.186512450G>C	ENSP00000376272:p.Ser136*					RFC4_uc011bsc.1_Nonsense_Mutation_p.S136*|RFC4_uc011bsd.1_Nonsense_Mutation_p.S136*	p.S136*	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	5	630	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		136					B4DM41|D3DNV2|Q6FHX7	Nonsense_Mutation	SNP	ENST00000392481.2	37	c.407C>G	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.041181	0.93685	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345	.	.	.	6.06	6.06	0.98353	.	0.381160	0.30575	N	0.009336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.1221	0.89574	0.0:0.0:1.0:0.0	.	.	.	.	X	136	.	ENSP00000296273:S136X	S	-	2	0	RFC4	187995144	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.764000	0.85297	2.871000	0.98454	0.655000	0.94253	TCA		PASS	0.373	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		10	208	10	208	---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186760494	186760494	+	Start_Codon_SNP	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:186760494G>A	ENST00000169298.3	+	4	677	c.3G>A	c.(1-3)atG>atA	p.M1I	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Start_Codon_SNP_p.M1I	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	1					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)	p.M1I(1)		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)		TCTTCATTATGATTCACACCA	0.398																																						uc003frb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1-3)ATG>ATA		ST6 beta-galactosamide							162.0	159.0	160.0					3																	186760494		2203	4299	6502	SO:0001582	initiator_codon_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.chr3:186760494G>A	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.3G>A	3.37:g.186760494G>A	ENSP00000169298:p.Met1Ile					ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Missense_Mutation_p.M1I	p.M1I	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	435	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		1			Cytoplasmic.		A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.3G>A	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416960	0.83449	.	.	ENSG00000073849	ENST00000169298;ENST00000458216;ENST00000430309;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000440338;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.25912	1.77;1.77	5.44	5.44	0.79542	.	0.101544	0.64402	D	0.000002	T	0.41259	0.1151	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.52957	0.714	T	0.30416	-0.9979	9	0.87932	D	0	-38.7341	15.1568	0.72749	0.0:0.0:1.0:0.0	.	1	P15907	SIAT1_HUMAN	I	1	ENSP00000169298:M1I;ENSP00000389337:M1I	ENSP00000169298:M1I	M	+	3	0	ST6GAL1	188243188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.037000	0.70956	2.724000	0.93272	0.561000	0.74099	ATG		PASS	0.398	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216	Missense_Mutation	97	616	97	616	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187449664	187449664	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:187449664G>A	ENST00000406870.2	-	4	582	c.216C>T	c.(214-216)atC>atT	p.I72I	BCL6_ENST00000232014.4_Silent_p.I72I|BCL6_ENST00000450123.2_Silent_p.I72I|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	72	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)	p.I72I(1)		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)		GATCTAGATTGATCACACTAA	0.443			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(214-216)ATC>ATT		B-cell lymphoma 6 protein isoform 1							104.0	84.0	91.0					3																	187449664		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:187449664G>A		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.216C>T	3.37:g.187449664G>A						BCL6_uc011bsf.1_Silent_p.I72I|BCL6_uc010hza.2_Intron|BCL6_uc003frq.1_Silent_p.I72I	p.I72I	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	673	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		72			BTB.		A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.216C>T	CCDS3289.1																																																																																				PASS	0.443	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		6	183	6	183	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189526204	189526204	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:189526204C>T	ENST00000264731.3	+	4	557	c.468C>T	c.(466-468)ttC>ttT	p.F156F	TP63_ENST00000392460.3_Silent_p.F156F|TP63_ENST00000456148.1_Silent_p.F62F|TP63_ENST00000320472.5_Silent_p.F156F|TP63_ENST00000354600.5_Silent_p.F62F|TP63_ENST00000437221.1_Silent_p.F62F|TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Silent_p.F62F|TP63_ENST00000440651.2_Silent_p.F156F|TP63_ENST00000418709.2_Silent_p.F156F|TP63_ENST00000392461.3_Silent_p.F62F|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	156					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)	p.F156F(1)		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)		GCTCCACCTTCGATGCTCTCT	0.627										HNSCC(45;0.13)																												uc003fry.2																			1	Substitution - coding silent(1)		lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(466-468)TTC>TTT		tumor protein p63 isoform 1							198.0	139.0	159.0					3																	189526204		2203	4300	6503	SO:0001819	synonymous_variant	8626	Hay-Wells_syndrome			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.chr3:189526204C>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.468C>T	3.37:g.189526204C>T		HNSCC(45;0.13)				TP63_uc003frx.2_Silent_p.F156F|TP63_uc003frz.2_Silent_p.F156F|TP63_uc010hzc.1_Silent_p.F156F|TP63_uc003fsa.2_Silent_p.F62F|TP63_uc003fsb.2_Silent_p.F62F|TP63_uc003fsc.2_Silent_p.F62F|TP63_uc003fsd.2_Silent_p.F62F|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.F37F	p.F156F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	557	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		156					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.468C>T	CCDS3293.1																																																																																				PASS	0.627	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		13	217	13	217	---	---	---	---
TP63	8626	broad.mit.edu	37	3	189590662	189590662	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:189590662G>C	ENST00000264731.3	+	10	1316	c.1227G>C	c.(1225-1227)gaG>gaC	p.E409D	TP63_ENST00000392460.3_Missense_Mutation_p.E409D|TP63_ENST00000456148.1_Missense_Mutation_p.E311D|TP63_ENST00000320472.5_Missense_Mutation_p.E409D|TP63_ENST00000354600.5_Missense_Mutation_p.E315D|TP63_ENST00000437221.1_Missense_Mutation_p.E315D|TP63_ENST00000382063.4_Missense_Mutation_p.E324D|TP63_ENST00000392463.2_Missense_Mutation_p.E315D|TP63_ENST00000440651.2_Missense_Mutation_p.E405D|TP63_ENST00000418709.2_Missense_Mutation_p.E409D|TP63_ENST00000392461.3_Missense_Mutation_p.E315D|TP63_ENST00000449992.1_Missense_Mutation_p.E230D	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	409	Oligomerization.				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)	p.E409D(1)		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)		GGGGCCGTGAGACTTATGAAA	0.448										HNSCC(45;0.13)																												uc003fry.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1225-1227)GAG>GAC		tumor protein p63 isoform 1							94.0	79.0	84.0					3																	189590662		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			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.chr3:189590662G>C	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.1227G>C	3.37:g.189590662G>C	ENSP00000264731:p.Glu409Asp	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.E409D|TP63_uc003frz.2_Missense_Mutation_p.E409D|TP63_uc010hzc.1_Missense_Mutation_p.E409D|TP63_uc003fsa.2_Missense_Mutation_p.E315D|TP63_uc003fsb.2_Missense_Mutation_p.E315D|TP63_uc003fsc.2_Missense_Mutation_p.E315D|TP63_uc003fsd.2_Missense_Mutation_p.E315D|TP63_uc010hzd.1_Missense_Mutation_p.E230D	p.E409D	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	10	1316	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		409			Oligomerization.		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.1227G>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793010	0.70452	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	6.03	5.16	0.70880	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	M	0.62209	1.925	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.98;0.98;0.98;0.98;0.999;0.999;0.98;0.988;0.999	D	0.95146	0.8268	9	.	.	.	-11.6563	9.5951	0.39569	0.2156:0.0:0.7844:0.0	.	230;409;315;315;315;315;409;409;409	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	D	409;409;409;409;405;324;315;315;315;315;230;311	ENSP00000264731:E409D;ENSP00000407144:E409D;ENSP00000317510:E409D;ENSP00000376253:E409D;ENSP00000394337:E405D;ENSP00000371495:E324D;ENSP00000346614:E315D;ENSP00000392488:E315D;ENSP00000376256:E315D;ENSP00000376254:E315D;ENSP00000387839:E230D;ENSP00000389485:E311D	.	E	+	3	2	TP63	191073356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.311000	0.43717	1.541000	0.49316	0.655000	0.94253	GAG		PASS	0.448	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		8	194	8	194	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189700892	189700892	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:189700892G>A	ENST00000319332.5	-	8	1464	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y	LEPREL1_ENST00000427335.2_Missense_Mutation_p.H242Y	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	423					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)	p.H423Y(1)		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)	GAGAATCCATGAACTTCTGCT	0.423																																						uc011bsk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1267-1269)CAT>TAT		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						214.0	205.0	208.0					3																	189700892		2203	4300	6503	SO:0001583	missense	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.chr3:189700892G>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.1267C>T	3.37:g.189700892G>A	ENSP00000316881:p.His423Tyr					LEPREL1_uc003fsg.2_Missense_Mutation_p.H242Y	p.H423Y	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	8	1655	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		423					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1267C>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371122	0.42003	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.34859	1.34;1.66	5.25	5.25	0.73442	.	0.844779	0.11053	N	0.604849	T	0.27832	0.0685	N	0.22421	0.69	0.29302	N	0.868606	B	0.25521	0.128	B	0.28709	0.093	T	0.10706	-1.0618	9	.	.	.	-22.3281	12.8509	0.57856	0.0:0.0:0.8369:0.1631	.	423	Q8IVL5	P3H2_HUMAN	Y	423;242	ENSP00000316881:H423Y;ENSP00000408947:H242Y	.	H	-	1	0	LEPREL1	191183586	0.993000	0.37304	1.000000	0.80357	0.706000	0.40770	2.439000	0.44846	2.622000	0.88805	0.637000	0.83480	CAT		PASS	0.423	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		23	500	23	500	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193159353	193159353	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:193159353C>A	ENST00000342695.4	-	20	2663	c.2341G>T	c.(2341-2343)Gaa>Taa	p.E781*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E762*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	781						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E781*(1)		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)		TCAGAGACTTCATCCCTGATG	0.378																																						uc003ftd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2341-2343)GAA>TAA		ATPase type 13A4							149.0	131.0	137.0					3																	193159353		2203	4300	6503	SO:0001587	stop_gained	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.chr3:193159353C>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.2341G>T	3.37:g.193159353C>A	ENSP00000339182:p.Glu781*					ATP13A4_uc003fte.1_Nonsense_Mutation_p.E781*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.E252*|ATP13A4_uc010hzi.2_RNA	p.E781*	NM_032279	NP_115655	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)	20	2449	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		781			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.2341G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	42	9.333269	0.99140	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	.	.	.	5.62	5.62	0.85841	.	0.341032	0.29046	N	0.013318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-21.0968	18.246	0.89986	0.0:1.0:0.0:0.0	.	.	.	.	X	762;781	.	ENSP00000339182:E781X	E	-	1	0	ATP13A4	194642047	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.625000	0.46452	2.640000	0.89533	0.655000	0.94253	GAA		PASS	0.378	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		21	298	21	298	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196733571	196733571	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr3:196733571G>C	ENST00000296350.5	-	14	1900	c.1787C>G	c.(1786-1788)tCa>tGa	p.S596*	MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	596	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.S596*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-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;0.00536)		ATAGTCCTCTGACCTGAGCTC	0.612																																						uc003fxk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1786-1788)TCA>TGA		melanoma-associated antigen p97 isoform 1							33.0	32.0	32.0					3																	196733571		2203	4300	6503	SO:0001587	stop_gained	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733571G>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1787C>G	3.37:g.196733571G>C	ENSP00000296350:p.Ser596*						p.S596*	NM_005929	NP_005920	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-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;0.00536)	14	1900	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		596			Transferrin-like 2.		Q9BQE2	Nonsense_Mutation	SNP	ENST00000296350.5	37	c.1787C>G	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006371	0.93287	.	.	ENSG00000163975	ENST00000296350	.	.	.	5.37	-2.25	0.06888	.	0.282726	0.36101	N	0.002793	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.3316	1.4154	0.02300	0.2245:0.163:0.4141:0.1984	.	.	.	.	X	596	.	ENSP00000296350:S596X	S	-	2	0	MFI2	198217968	0.927000	0.31430	0.000000	0.03702	0.005000	0.04900	1.832000	0.39151	-0.936000	0.03723	-0.314000	0.08810	TCA		PASS	0.612	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			10	113	10	113	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3418748	3418748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:3418748C>T	ENST00000344733.5	+	8	3440	c.2536C>T	c.(2536-2538)Cag>Tag	p.Q846*	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Nonsense_Mutation_p.Q846*|RGS12_ENST00000306648.7_Nonsense_Mutation_p.Q244*|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Nonsense_Mutation_p.Q846*|RGS12_ENST00000338806.4_Nonsense_Mutation_p.Q198*|RGS12_ENST00000538395.1_Nonsense_Mutation_p.Q188*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	846					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)	p.Q846*(1)		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)		GGACTCGCAGCAGGTCCCCAG	0.612																																						uc003ggw.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2536-2538)CAG>TAG		regulator of G-protein signalling 12 isoform 1							49.0	52.0	51.0					4																	3418748		2203	4300	6503	SO:0001587	stop_gained	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3418748C>T	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.2536C>T	4.37:g.3418748C>T	ENSP00000339381:p.Gln846*					RGS12_uc010ics.1_Nonsense_Mutation_p.Q45*|RGS12_uc003ggv.2_Nonsense_Mutation_p.Q846*|RGS12_uc003ggy.1_Nonsense_Mutation_p.Q244*|RGS12_uc010ict.1_Nonsense_Mutation_p.Q198*|RGS12_uc003ggz.2_Nonsense_Mutation_p.Q198*|RGS12_uc010icu.1_Nonsense_Mutation_p.Q45*|RGS12_uc011bvs.1_Nonsense_Mutation_p.Q188*|RGS12_uc003gha.2_Nonsense_Mutation_p.Q188*|RGS12_uc010icv.2_Nonsense_Mutation_p.Q45*|RGS12_uc003ghb.2_Nonsense_Mutation_p.Q45*	p.Q846*	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	3440	+			846					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	c.2536C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751457	0.89753	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.7	4.7	0.59300	.	0.128525	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-16.3112	12.8506	0.57855	0.0:0.836:0.1639:0.0	.	.	.	.	X	846;846;846;244;198;188	.	ENSP00000304459:Q244X	Q	+	1	0	RGS12	3388546	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.562000	0.60816	2.330000	0.79161	0.609000	0.83330	CAG		PASS	0.612	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		30	41	30	41	---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6598903	6598903	+	Missense_Mutation	SNP	G	G	A	rs144033191	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:6598903G>A	ENST00000285599.3	+	8	1157	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R323Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	374					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)	p.R374Q(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGGCCCGGCGAGCCAGCGCC	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		16496	0.0		0.001	False		,,,				2504	0.002					uc003gjf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1120-1122)CGA>CAA		mannosidase, alpha, class 2B, member 2							81.0	91.0	88.0					4																	6598903		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6598903G>A	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.1121G>A	4.37:g.6598903G>A	ENSP00000285599:p.Arg374Gln					MAN2B2_uc003gje.1_Missense_Mutation_p.R374Q|MAN2B2_uc011bwf.1_Missense_Mutation_p.R323Q	p.R374Q	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN			8	1157	+			374					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1121G>A	CCDS33951.1	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	15.18|15.18	2.756925|2.756925	0.49362|0.49362	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|D;D	.|0.81996	.|-1.56;-1.56	5.13|5.13	0.345|0.345	0.16011|0.16011	.|Glycoside hydrolase, family 38, central domain (2);	.|0.457990	.|0.22973	.|N	.|0.053420	T|T	0.65544|0.65544	0.2701|0.2701	L|L	0.31207|0.31207	0.915|0.915	0.31646|0.31646	N|N	0.647454|0.647454	.|P;P;B	.|0.43431	.|0.807;0.807;0.141	.|B;B;B	.|0.36289	.|0.221;0.161;0.031	T|T	0.65578|0.65578	-0.6134|-0.6134	5|10	.|0.12103	.|T	.|0.63	-0.5413|-0.5413	8.641|8.641	0.33976|0.33976	0.4032:0.0:0.5968:0.0|0.4032:0.0:0.5968:0.0	.|.	.|323;374;374	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	K|Q	373|374;323	.|ENSP00000285599:R374Q;ENSP00000423129:R323Q	.|ENSP00000285599:R374Q	E|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6649804|6649804	0.993000|0.993000	0.37304|0.37304	0.190000|0.190000	0.23270|0.23270	0.993000|0.993000	0.82548|0.82548	1.839000|1.839000	0.39220|0.39220	-0.295000|-0.295000	0.08960|0.08960	0.549000|0.549000	0.68633|0.68633	GAG|CGA		PASS	0.657	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		11	116	11	116	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8229027	8229027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:8229027G>T	ENST00000245105.3	+	12	1673	c.1606G>T	c.(1606-1608)Gag>Tag	p.E536*	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.E460*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	536								p.E536*(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTCAGCGACGAGGAGGAGCT	0.687																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(1606-1608)GAG>TAG		SH3 domain and tetratricopeptide repeats 1							11.0	12.0	12.0					4																	8229027		2181	4274	6455	SO:0001587	stop_gained	54436						binding	g.chr4:8229027G>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.1606G>T	4.37:g.8229027G>T	ENSP00000245105:p.Glu536*					SH3TC1_uc003gkw.3_Nonsense_Mutation_p.E460*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	p.E536*	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			12	1707	+			536					Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	c.1606G>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055431	0.75960	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.51	3.67	0.42095	.	0.060929	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.425	12.7325	0.57204	0.0806:0.0:0.9194:0.0	.	.	.	.	X	274;536;460;365	.	ENSP00000245105:E536X	E	+	1	0	SH3TC1	8279927	1.000000	0.71417	0.633000	0.29310	0.003000	0.03518	7.243000	0.78219	0.902000	0.36520	-0.221000	0.12465	GAG		PASS	0.687	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		6	20	6	20	---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15060838	15060838	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:15060838G>C	ENST00000507071.1	+	9	1360	c.1273G>C	c.(1273-1275)Gat>Cat	p.D425H	CPEB2_ENST00000382395.3_Missense_Mutation_p.D403H|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.D395H|CPEB2_ENST00000538197.1_Missense_Mutation_p.D870H|CPEB2_ENST00000382401.3_Missense_Mutation_p.D398H|CPEB2_ENST00000259997.5_Missense_Mutation_p.D433H|CPEB2_ENST00000541112.1_Missense_Mutation_p.D862H|CPEB2_ENST00000442003.2_Missense_Mutation_p.D843H			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	425					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)	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373																																						uc003gni.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1273-1275)GAT>CAT		cytoplasmic polyadenylation element binding							110.0	112.0	111.0					4																	15060838		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15060838G>C	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.1273G>C	4.37:g.15060838G>C	ENSP00000424084:p.Asp425His					CPEB2_uc003gnj.1_Missense_Mutation_p.D395H|CPEB2_uc003gnk.1_Missense_Mutation_p.D433H|CPEB2_uc003gnl.1_Missense_Mutation_p.D406H|CPEB2_uc003gnm.1_Missense_Mutation_p.D403H|CPEB2_uc003gnn.1_Missense_Mutation_p.D398H	p.D425H	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN			9	1360	+			425					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.1273G>C		.	.	.	.	.	.	.	.	.	.	G	28.7	4.941496	0.92526	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.85373	2.75	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;1.0;1.0;1.0;1.0;0.997	T	0.63607	-0.6599	10	0.87932	D	0	-19.1322	20.0118	0.97458	0.0:0.0:1.0:0.0	.	398;403;843;870;395;425	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	H	870;862;843;425;395;403;398;433;412;78	ENSP00000443985:D870H;ENSP00000437884:D862H;ENSP00000414270:D843H;ENSP00000424084:D425H;ENSP00000334058:D395H;ENSP00000371832:D403H;ENSP00000371838:D398H;ENSP00000259997:D433H;ENSP00000423890:D78H	ENSP00000259997:D433H	D	+	1	0	CPEB2	14669936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.591000	0.81541	GAT		PASS	0.373	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		17	100	17	100	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39122658	39122658	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:39122658G>A	ENST00000504108.1	+	11	2523	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	KLHL5_ENST00000508137.2_Missense_Mutation_p.G560E|KLHL5_ENST00000261425.3_Missense_Mutation_p.G701E|KLHL5_ENST00000359687.2_Intron|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261426.5_Missense_Mutation_p.G686E	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	747						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G747E(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGAAGAGCTGGAGCTTGTGTT	0.358																																						uc003gts.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2239-2241)GGA>GAA		kelch-like 5 isoform 1							139.0	128.0	132.0					4																	39122658		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39122658G>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.2240G>A	4.37:g.39122658G>A	ENSP00000423897:p.Gly747Glu					KLHL5_uc003gtp.2_Missense_Mutation_p.G701E|KLHL5_uc003gtq.2_Missense_Mutation_p.G560E|KLHL5_uc003gtt.2_Missense_Mutation_p.G686E	p.G747E	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			11	2315	+			747			Kelch 6.		A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.2240G>A	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744187	0.89663	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000261426;ENST00000546147	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.54	5.54	0.83059	Kelch-type beta propeller (1);	.	.	.	.	D	0.85146	0.5630	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86944	0.2081	9	0.87932	D	0	.	19.8568	0.96762	0.0:0.0:1.0:0.0	.	686;747	F8WAE7;Q96PQ7	.;KLHL5_HUMAN	E	781;701;560;747;686;341	ENSP00000261425:G701E;ENSP00000423080:G560E;ENSP00000423897:G747E;ENSP00000261426:G686E	ENSP00000261425:G701E	G	+	2	0	KLHL5	38799053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.059000	0.89462	2.764000	0.94973	0.650000	0.86243	GGA		PASS	0.358	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			17	81	17	81	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44449797	44449797	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:44449797G>A	ENST00000360029.3	-	1	1027	c.744C>T	c.(742-744)ttC>ttT	p.F248F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	248					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.F248F(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGTGTCCCCGAAGACCTCCT	0.647										HNSCC(17;0.042)																												uc003gwu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(742-744)TTC>TTT		potassium channel tetramerisation domain							38.0	32.0	34.0					4																	44449797		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449797G>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.744C>T	4.37:g.44449797G>A		HNSCC(17;0.042)					p.F248F	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	1028	-			248					A2RU39	Silent	SNP	ENST00000360029.3	37	c.744C>T	CCDS3467.1																																																																																				PASS	0.647	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			10	18	10	18	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52883607	52883607	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:52883607A>G	ENST00000343457.3	-	1	179	c.173T>C	c.(172-174)aTa>aCa	p.I58T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	58						integral component of membrane (GO:0016021)		p.I58T(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGTCTGTGATATGTCCACAGG	0.343																																						uc003gzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(172-174)ATA>ACA		leucine rich repeat containing 66							66.0	67.0	66.0					4																	52883607		1851	4094	5945	SO:0001583	missense	339977					integral to membrane		g.chr4:52883607A>G	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.173T>C	4.37:g.52883607A>G	ENSP00000341944:p.Ile58Thr						p.I58T	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			1	186	-			58						Missense_Mutation	SNP	ENST00000343457.3	37	c.173T>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	A	0.103	-1.149367	0.01714	.	.	ENSG00000188993	ENST00000343457	T	0.52754	0.65	5.01	-10.0	0.00425	.	2.407440	0.01251	N	0.008895	T	0.23330	0.0564	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	10	0.27082	T	0.32	3.8919	9.871	0.41175	0.2174:0.3824:0.4001:0.0	.	58	Q68CR7	LRC66_HUMAN	T	58	ENSP00000341944:I58T	ENSP00000341944:I58T	I	-	2	0	LRRC66	52578364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.035000	0.03564	-3.346000	0.00182	-2.635000	0.00153	ATA		PASS	0.343	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		13	111	13	111	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55161433	55161433	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:55161433C>T	ENST00000257290.5	+	23	3595	c.3264C>T	c.(3262-3264)ttC>ttT	p.F1088F	FIP1L1_ENST00000507166.1_Silent_p.F848F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1088					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.F1088F(1)		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)	AAGACAGCTTCCTGTAACTGG	0.512			"""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)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(3262-3264)TTC>TTT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						137.0	127.0	130.0					4																	55161433		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:55161433C>T	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.3264C>T	4.37:g.55161433C>T		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Silent_p.F848F	p.F1088F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		23	3595	+	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)		1088			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.3264C>T	CCDS3495.1																																																																																				PASS	0.512	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		13	156	13	156	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71508450	71508450	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:71508450C>G	ENST00000396073.3	+	9	1588	c.1307C>G	c.(1306-1308)cCa>cGa	p.P436R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	436					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.P436R(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATCCAAAATCCAAAGGAGAAG	0.448																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1306-1308)CCA>CGA		enamelin precursor							39.0	42.0	41.0					4																	71508450		2198	4298	6496	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508450C>G	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.1307C>G	4.37:g.71508450C>G	ENSP00000379383:p.Pro436Arg						p.P436R	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1588	+			436					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1307C>G	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377462	0.42105	.	.	ENSG00000132464	ENST00000396073	T	0.39406	1.08	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000020	T	0.71384	0.3333	M	0.91196	3.185	0.43025	D	0.994588	D	0.71674	0.998	D	0.70487	0.969	T	0.77699	-0.2490	10	0.87932	D	0	-11.5028	15.854	0.78960	0.0:1.0:0.0:0.0	.	436	Q9NRM1	ENAM_HUMAN	R	436	ENSP00000379383:P436R	ENSP00000379383:P436R	P	+	2	0	ENAM	71727314	0.922000	0.31269	0.976000	0.42696	0.011000	0.07611	1.739000	0.38217	2.826000	0.97356	0.655000	0.94253	CCA		PASS	0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		12	88	12	88	---	---	---	---
SCARB2	950	broad.mit.edu	37	4	77084496	77084496	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:77084496G>C	ENST00000264896.2	-	11	1629	c.1280C>G	c.(1279-1281)tCt>tGt	p.S427C	SCARB2_ENST00000452464.2_Missense_Mutation_p.S284C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	427					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)	p.S427C(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTAATCATAGACTTCAGTCG	0.408																																						uc003hju.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)TCT>TGT		scavenger receptor class B, member 2							253.0	217.0	229.0					4																	77084496		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.chr4:77084496G>C	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.1280C>G	4.37:g.77084496G>C	ENSP00000264896:p.Ser427Cys					SCARB2_uc011cbu.1_Missense_Mutation_p.S284C	p.S427C	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		11	1619	-			427			Lumenal (Potential).		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1280C>G	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540172	0.65085	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73152	-0.72;-0.72	5.87	5.87	0.94306	.	0.397205	0.30252	N	0.010054	D	0.84593	0.5506	M	0.83012	2.62	0.43304	D	0.995302	D;D	0.76494	0.999;0.997	D;D	0.68353	0.951;0.957	D	0.83639	0.0149	10	0.38643	T	0.18	.	17.1359	0.86739	0.0:0.0:1.0:0.0	.	284;427	E7EM68;Q14108	.;SCRB2_HUMAN	C	427;284	ENSP00000264896:S427C;ENSP00000399154:S284C	ENSP00000264896:S427C	S	-	2	0	SCARB2	77303520	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.607000	0.46300	2.780000	0.95670	0.655000	0.94253	TCT		PASS	0.408	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		29	116	29	116	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77662404	77662404	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:77662404G>A	ENST00000296043.6	+	5	4031	c.3078G>A	c.(3076-3078)atG>atA	p.M1026I		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1026	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				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)		p.M1025I(1)		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)			CCGAGAAGATGAACGAGGTGG	0.711																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3076-3078)ATG>ATA		shroom family member 3 protein							14.0	16.0	15.0					4																	77662404		2184	4278	6462	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.chr4:77662404G>A	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.3078G>A	4.37:g.77662404G>A	ENSP00000296043:p.Met1026Ile					SHROOM3_uc011cbz.1_Missense_Mutation_p.M850I|SHROOM3_uc003hkf.1_Missense_Mutation_p.M901I|SHROOM3_uc003hkg.2_Missense_Mutation_p.M804I	p.M1026I	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4031	+			1026			ASD1.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3078G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157336	0.21454	.	.	ENSG00000138771	ENST00000296043	T	0.39229	1.09	4.91	2.15	0.27550	Apx/shroom, ASD1 (2);	0.149974	0.44902	N	0.000408	T	0.28797	0.0714	L	0.38953	1.18	0.39063	D	0.960563	B;B;B	0.29552	0.17;0.248;0.17	B;B;B	0.26310	0.068;0.038;0.068	T	0.10590	-1.0623	10	0.51188	T	0.08	-12.4	7.3814	0.26858	0.1476:0.0:0.7177:0.1347	.	850;1026;804	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	I	1026	ENSP00000296043:M1026I	ENSP00000296043:M1026I	M	+	3	0	SHROOM3	77881428	1.000000	0.71417	0.133000	0.22050	0.076000	0.17211	2.906000	0.48735	0.458000	0.26988	0.563000	0.77884	ATG		PASS	0.711	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		4	21	4	21	---	---	---	---
BMP2K	55589	broad.mit.edu	37	4	79832756	79832756	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:79832756C>T	ENST00000335016.5	+	16	3221	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1019					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.R1019C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGAGAGGGCTCGCAGGCACAA	0.478																																						uc003hlk.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3055-3057)CGC>TGC		BMP-2 inducible kinase isoform a							47.0	48.0	48.0					4																	79832756		1880	4108	5988	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79832756C>T	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.3055C>T	4.37:g.79832756C>T	ENSP00000334836:p.Arg1019Cys					PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	p.R1019C	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			16	3221	+			1019					O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.3055C>T	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.586657|3.586657	0.66105|0.66105	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000335016|ENST00000502613	T|.	0.49432|.	0.78|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.76011|0.76011	0.3928|0.3928	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.74725|0.74725	-0.3568|-0.3568	10|5	0.87932|.	D|.	0|.	-10.2075|-10.2075	19.1973|19.1973	0.93695|0.93695	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1019|.	Q9NSY1|.	BMP2K_HUMAN|.	C|L	1019|711	ENSP00000334836:R1019C|.	ENSP00000334836:R1019C|.	R|S	+|+	1|2	0|0	BMP2K|BMP2K	80051780|80051780	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.976000|0.976000	0.68499|0.68499	7.197000|7.197000	0.77814|0.77814	2.538000|2.538000	0.85594|0.85594	0.484000|0.484000	0.47621|0.47621	CGC|TCG		PASS	0.478	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		10	107	10	107	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84376570	84376570	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:84376570C>T	ENST00000295488.3	-	1	439	c.277G>A	c.(277-279)Gac>Aac	p.D93N	HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.D93N	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	93					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)	p.D93N(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACCCCTCTGTCAGTGGGCATG	0.532								Other identified genes with known or suspected DNA repair function																														uc003hom.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(277-279)GAC>AAC	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							119.0	126.0	124.0					4																	84376570		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84376570C>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.277G>A	4.37:g.84376570C>T	ENSP00000295488:p.Asp93Asn					HELQ_uc010ikb.2_Missense_Mutation_p.D93N|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Intron|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Missense_Mutation_p.D93N|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.D93N	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			1	456	-			93					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.277G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	4.476	0.088146	0.08583	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.64991	0.26;-0.13	3.82	-1.78	0.07957	.	5.335620	0.00604	N	0.000385	T	0.39226	0.1070	N	0.08118	0	0.09310	N	1	B;B;B	0.22604	0.005;0.072;0.005	B;B;B	0.16289	0.005;0.015;0.005	T	0.18808	-1.0325	10	0.16896	T	0.51	.	7.466	0.27322	0.2954:0.2408:0.4638:0.0	.	93;93;93	E3W980;E3W982;Q8TDG4	.;.;HELQ_HUMAN	N	93	ENSP00000295488:D93N;ENSP00000424539:D93N	ENSP00000295488:D93N	D	-	1	0	HELQ	84595594	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.389000	0.20751	-0.406000	0.07588	-0.300000	0.09419	GAC		PASS	0.532	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		21	187	21	187	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85664938	85664938	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:85664938C>T	ENST00000295888.4	-	37	6395	c.5988G>A	c.(5986-5988)agG>agA	p.R1996R	WDFY3_ENST00000322366.6_Silent_p.R1996R	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1996					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.R1996R(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)		TTCTTGTAGACCTTTCAGGGG	0.323																																						uc003hpd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5986-5988)AGG>AGA		WD repeat and FYVE domain containing 3 isoform							77.0	77.0	77.0					4																	85664938		2203	4299	6502	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85664938C>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.5988G>A	4.37:g.85664938C>T							p.R1996R	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	37	6396	-		Hepatocellular(203;0.114)	1996					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.5988G>A	CCDS3609.1																																																																																				PASS	0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		12	90	12	90	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88979148	88979148	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:88979148C>T	ENST00000508588.1	+	4	561	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	PKD2_ENST00000511337.1_Intron|PKD2_ENST00000237596.2_Missense_Mutation_p.R638C|PKD2_ENST00000502363.1_Missense_Mutation_p.R56C			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)	p.R638C(1)		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)		CACTCAATTCCGTATCATTTT	0.313																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1912-1914)CGT>TGT		polycystin 2							173.0	151.0	159.0					4																	88979148		2203	4299	6502	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.chr4:88979148C>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	ENST00000508588.1:c.166C>T	4.37:g.88979148C>T	ENSP00000427131:p.Arg56Cys					PKD2_uc011cdf.1_Missense_Mutation_p.R56C|PKD2_uc011cdg.1_Intron|PKD2_uc011cdh.1_Intron	p.R638C	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	9	1978	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	638			Extracellular (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.1912C>T		.	.	.	.	.	.	.	.	.	.	C	27.8	4.860657	0.91433	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	D;T;T	0.97480	-4.4;-0.61;-0.61	5.48	5.48	0.80851	Polycystin cation channel, PKD1/PKD2 (1);	0.048097	0.85682	D	0.000000	D	0.98324	0.9444	M	0.91406	3.205	0.80722	D	1	P	0.52577	0.954	P	0.52424	0.698	D	0.99421	1.0933	10	0.87932	D	0	-6.1829	19.3488	0.94376	0.0:1.0:0.0:0.0	.	638	Q13563	PKD2_HUMAN	C	638;56;56	ENSP00000237596:R638C;ENSP00000427131:R56C;ENSP00000425289:R56C	ENSP00000237596:R638C	R	+	1	0	PKD2	89198172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.699000	0.84547	2.575000	0.86900	0.591000	0.81541	CGT		PASS	0.313	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		9	71	9	71	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100510802	100510802	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:100510802C>G	ENST00000265517.5	+	4	599	c.396C>G	c.(394-396)gtC>gtG	p.V132V	MTTP_ENST00000457717.1_Silent_p.V132V|MTTP_ENST00000511045.1_Silent_p.V159V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	132	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.V132V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCCACCAGGTCAAAGAGTTCT	0.408																																						uc003hvc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(394-396)GTC>GTG		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						83.0	85.0	84.0					4																	100510802		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100510802C>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.396C>G	4.37:g.100510802C>G						MTTP_uc011cej.1_Silent_p.V159V	p.V132V	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	5	652	+			132			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.396C>G	CCDS3651.1																																																																																				PASS	0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			6	43	6	43	---	---	---	---
MANBA	4126	broad.mit.edu	37	4	103553402	103553402	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:103553402C>G	ENST00000226578.4	-	17	2551	c.2452G>C	c.(2452-2454)Gac>Cac	p.D818H	MANBA_ENST00000505239.1_Missense_Mutation_p.D761H	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	818					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)	p.D818N(2)|p.D818H(1)		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)		GTCTCCAGGTCAAAAACAAAT	0.418																																						uc003hwg.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2452-2454)GAC>CAC		mannosidase, beta A, lysosomal precursor							81.0	84.0	83.0					4																	103553402		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103553402C>G		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.2452G>C	4.37:g.103553402C>G	ENSP00000226578:p.Asp818His					MANBA_uc011ces.1_Missense_Mutation_p.D761H	p.D818H	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	17	2552	-		Hepatocellular(203;0.217)	818					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.2452G>C	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552851	0.27739	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.69561	-0.41;-0.41	5.15	3.38	0.38709	.	0.373026	0.30401	N	0.009708	T	0.67107	0.2858	M	0.68317	2.08	0.38117	D	0.937745	P;P	0.42735	0.788;0.593	B;B	0.43331	0.276;0.416	T	0.68224	-0.5465	10	0.34782	T	0.22	-10.3539	14.3532	0.66719	0.0:0.5716:0.4284:0.0	.	761;818	E9PFW2;O00462	.;MANBA_HUMAN	H	818;761	ENSP00000226578:D818H;ENSP00000427322:D761H	ENSP00000226578:D818H	D	-	1	0	MANBA	103772450	0.484000	0.25964	0.994000	0.49952	0.828000	0.46876	0.068000	0.14531	0.540000	0.28808	0.460000	0.39030	GAC		PASS	0.418	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			11	108	11	108	---	---	---	---
LARP1B	55132	broad.mit.edu	37	4	129035746	129035746	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:129035746G>C	ENST00000326639.6	+	10	1221	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.R337T|LARP1B_ENST00000264584.5_Missense_Mutation_p.R290T|LARP1B_ENST00000427266.1_Missense_Mutation_p.R337T|LARP1B_ENST00000512292.1_Missense_Mutation_p.R337T	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	337						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R337T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AATTCTCCAAGAATTGGAAGC	0.343																																						uc003iga.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1009-1011)AGA>ACA		La ribonucleoprotein domain family member 2							51.0	54.0	53.0					4																	129035746		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129035746G>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.1010G>C	4.37:g.129035746G>C	ENSP00000321997:p.Arg337Thr					LARP1B_uc003ifz.1_Missense_Mutation_p.R337T|LARP1B_uc003igb.1_Missense_Mutation_p.R52T	p.R337T	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			10	1141	+			337					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1010G>C	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.15|13.15	2.150571|2.150571	0.37923|0.37923	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	.|T;T;T;T;T;T	.|0.32753	.|1.87;1.44;1.48;1.89;1.88;1.45	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	.|0.382503	.|0.24899	.|U	.|0.034716	T|T	0.24661|0.24661	0.0598|0.0598	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25563	.|0.129;0.126;0.053	.|B;B;B	.|0.22601	.|0.028;0.04;0.019	T|T	0.05419|0.05419	-1.0886|-1.0886	5|10	.|0.15499	.|T	.|0.54	.|.	16.5295|16.5295	0.84354|0.84354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|290;337;337	.|D6RJB0;Q659C4;G3XAJ5	.|.;LAR1B_HUMAN;.	N|T	305|337;337;290;290;337;337	.|ENSP00000321997:R337T;ENSP00000422850:R337T;ENSP00000427281:R290T;ENSP00000264584:R290T;ENSP00000396521:R337T;ENSP00000403586:R337T	.|ENSP00000264584:R290T	K|R	+|+	3|2	2|0	LARP1B|LARP1B	129255196|129255196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.450000|0.450000	0.32258|0.32258	5.176000|5.176000	0.65026|0.65026	2.099000|2.099000	0.63709|0.63709	0.467000|0.467000	0.42956|0.42956	AAG|AGA		PASS	0.343	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		16	44	16	44	---	---	---	---
RBM46	166863	broad.mit.edu	37	4	155720158	155720158	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:155720158G>A	ENST00000281722.3	+	4	1079	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	RBM46_ENST00000514866.1_Missense_Mutation_p.E282K|RBM46_ENST00000510397.1_Missense_Mutation_p.E282K	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	282	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E282K(1)		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)				TTTCAACCGAGAAGATGCAGT	0.363																																						uc003ioo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(844-846)GAA>AAA		RNA binding motif protein 46							93.0	84.0	87.0					4																	155720158		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720158G>A	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.844G>A	4.37:g.155720158G>A	ENSP00000281722:p.Glu282Lys					RBM46_uc011cim.1_Missense_Mutation_p.E282K|RBM46_uc003iop.1_Missense_Mutation_p.E282K	p.E282K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			4	1017	+	all_hematologic(180;0.24)	Renal(120;0.0854)	282			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.844G>A	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632589	0.67015	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.78364	-1.17;-1.17;-1.17	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.231125	0.48286	D	0.000199	T	0.80914	0.4715	L	0.53729	1.69	0.80722	D	1	B;B;B	0.30605	0.287;0.014;0.032	B;B;B	0.39339	0.297;0.063;0.063	T	0.78043	-0.2358	10	0.66056	D	0.02	-22.5478	20.8794	0.99867	0.0:0.0:1.0:0.0	.	282;282;282	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	K	282	ENSP00000424500:E282K;ENSP00000281722:E282K;ENSP00000422813:E282K	ENSP00000281722:E282K	E	+	1	0	RBM46	155939608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.999000	0.63934	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		7	33	7	33	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050300	164050300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:164050300G>A	ENST00000274054.2	-	8	1427	c.1234C>T	c.(1234-1236)Cag>Tag	p.Q412*	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	412					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)	p.Q412*(1)		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)				TTTTGTCTCTGAGAAGGAAAT	0.502																																						uc003iqj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1234-1236)CAG>TAG		nuclear assembly factor 1 homolog isoform a							71.0	79.0	76.0					4																	164050300		2203	4300	6503	SO:0001587	stop_gained	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050300G>A		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.1234C>T	4.37:g.164050300G>A	ENSP00000274054:p.Gln412*					NAF1_uc010iqw.1_Intron	p.Q412*	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1428	-	all_hematologic(180;0.166)	Prostate(90;0.109)	412					D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	c.1234C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370799	0.61624	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.35	4.35	0.52113	.	0.811860	0.11301	N	0.578181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-6.7022	13.097	0.59197	0.0:0.0:1.0:0.0	.	.	.	.	X	412	.	ENSP00000274054:Q412X	Q	-	1	0	NAF1	164269750	0.926000	0.31397	0.619000	0.29118	0.154000	0.21943	4.726000	0.61986	2.349000	0.79799	0.591000	0.81541	CAG		PASS	0.502	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		14	101	14	101	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247167	164247167	+	Silent	SNP	A	A	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:164247167A>C	ENST00000296533.2	-	2	1071	c.540T>G	c.(538-540)acT>acG	p.T180T	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	180					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)	p.T180T(1)		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)				ACGGCTCATCAGTCATTACTT	0.418																																						uc003iqm.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|pancreas(1)	2						c.(538-540)ACT>ACG		neuropeptide Y receptor Y1							122.0	112.0	115.0					4																	164247167		2203	4300	6503	SO:0001819	synonymous_variant	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247167A>C		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.540T>G	4.37:g.164247167A>C						NPY1R_uc011cjj.1_Intron	p.T180T	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	806	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	180			Extracellular (Potential).		B2R6H5	Silent	SNP	ENST00000296533.2	37	c.540T>G	CCDS34089.1																																																																																				PASS	0.418	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			63	67	63	67	---	---	---	---
MARCH1	55016	broad.mit.edu	37	4	165118229	165118229	+	Intron	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr4:165118229T>C	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D212G(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				tacctctccatcgttataacc	0.517																																						uc011cjk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GAT>GGT		acidic nuclear phosphoprotein 32C							211.0	167.0	182.0					4																	165118229		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118229T>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85415A>G	4.37:g.165118229T>C						MARCH1_uc003iqs.1_Intron	p.D212G	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	635	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	212			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.635A>G	CCDS54814.1																																																																																				PASS	0.517	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		29	19	29	19	---	---	---	---
CCDC127	133957	broad.mit.edu	37	5	205636	205636	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:205636C>G	ENST00000296824.3	-	3	691	c.559G>C	c.(559-561)Gag>Cag	p.E187Q		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	187								p.E187Q(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AAGCTCTTCTCTATCTCCAGC	0.517																																						uc003jam.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GAG>CAG		coiled-coil domain containing 127							65.0	66.0	66.0					5																	205636		2203	4300	6503	SO:0001583	missense	133957							g.chr5:205636C>G	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.559G>C	5.37:g.205636C>G	ENSP00000296824:p.Glu187Gln						p.E187Q	NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	659	-			187						Missense_Mutation	SNP	ENST00000296824.3	37	c.559G>C	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506072	0.64410	.	.	ENSG00000164366	ENST00000296824	D	0.87334	-2.24	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.93723	0.7994	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94134	0.7391	10	0.87932	D	0	-33.0582	17.2768	0.87118	0.0:1.0:0.0:0.0	.	187	Q96BQ5	CC127_HUMAN	Q	187	ENSP00000296824:E187Q	ENSP00000296824:E187Q	E	-	1	0	CCDC127	258636	1.000000	0.71417	0.958000	0.39756	0.015000	0.08874	7.077000	0.76814	2.696000	0.92011	0.561000	0.74099	GAG		PASS	0.517	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		10	195	10	195	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	865589	865589	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:865589G>A	ENST00000467963.1	-	15	1799	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	BRD9_ENST00000388890.4_Missense_Mutation_p.R429W|BRD9_ENST00000323510.4_Missense_Mutation_p.R449W|BRD9_ENST00000483173.1_Missense_Mutation_p.R492W	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	545					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.R449W(1)|p.R545W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GACGACGGCCGAGAGCCGCCG	0.652																																						uc003jbq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1633-1635)CGG>TGG		bromodomain containing 9 isoform 1							94.0	94.0	94.0					5																	865589		2203	4300	6503	SO:0001583	missense	65980						nucleic acid binding	g.chr5:865589G>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1633C>T	5.37:g.865589G>A	ENSP00000419765:p.Arg545Trp					BRD9_uc003jbl.2_Missense_Mutation_p.R429W|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.R492W|BRD9_uc003jbo.2_Missense_Mutation_p.R449W	p.R545W	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		15	1800	-			545					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.1633C>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	g	18.59	3.655935	0.67586	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.36	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.969;0.947;0.976;0.976	T	0.70189	-0.4940	10	0.72032	D	0.01	.	14.6831	0.69031	0.0:0.0:0.7697:0.2303	.	492;545;449;429	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	W	449;429;492;545	ENSP00000323557:R449W;ENSP00000373542:R429W;ENSP00000419845:R492W;ENSP00000419765:R545W	ENSP00000323557:R449W	R	-	1	2	BRD9	918589	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.285000	0.43487	2.527000	0.85204	0.561000	0.74099	CGG		PASS	0.652	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		9	176	9	176	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1075584	1075584	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:1075584C>G	ENST00000264930.5	-	15	1912	c.1869G>C	c.(1867-1869)atG>atC	p.M623I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	623					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)	p.M623I(1)		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)	GGCACAGGCTCATACCCAGAA	0.642																																						uc003jbu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1867-1869)ATG>ATC		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						63.0	56.0	59.0					5																	1075584		2201	4299	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1075584C>G	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.1869G>C	5.37:g.1075584C>G	ENSP00000264930:p.Met623Ile						p.M623I	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		15	1935	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		623			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1869G>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.242100	0.79912	.	.	ENSG00000113504	ENST00000264930	D	0.98567	-5.0	4.27	4.27	0.50696	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	L	0.46614	1.455	0.58432	D	0.999997	B	0.30727	0.292	B	0.29440	0.102	D	0.95508	0.8583	10	0.38643	T	0.18	.	14.5317	0.67931	0.0:1.0:0.0:0.0	.	623	Q9Y666	S12A7_HUMAN	I	623	ENSP00000264930:M623I	ENSP00000264930:M623I	M	-	3	0	SLC12A7	1128584	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.946000	0.75953	2.084000	0.62774	0.491000	0.48974	ATG		PASS	0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		12	66	12	66	---	---	---	---
TERT	7015	broad.mit.edu	37	5	1264696	1264696	+	Missense_Mutation	SNP	C	C	T	rs532158398		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:1264696C>T	ENST00000310581.5	-	11	2723	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	889	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)	p.R877Q(1)|p.R889Q(1)		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)	AGGGACACCTCGGACCAGGGT	0.577									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2665-2667)CGA>CAA		telomerase reverse transcriptase isoform 1							72.0	78.0	76.0					5																	1264696		2102	4227	6329	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	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.chr5:1264696C>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.2666G>A	5.37:g.1264696C>T	ENSP00000309572:p.Arg889Gln					TERT_uc003jbz.1_Missense_Mutation_p.R85Q|TERT_uc003jca.1_Missense_Mutation_p.R877Q|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron	p.R889Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	2724	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		889			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2666G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	3.550	-0.091861	0.07053	.	.	ENSG00000164362	ENST00000310581	D	0.97688	-4.49	4.09	-3.4	0.04853	Reverse transcriptase (2);	1.624070	0.03744	N	0.255471	D	0.94128	0.8117	L	0.58101	1.795	0.09310	N	1	P	0.36753	0.568	B	0.24394	0.053	D	0.87595	0.2493	10	0.13470	T	0.59	-12.0054	8.0136	0.30368	0.1302:0.1284:0.0:0.7414	.	889	O14746	TERT_HUMAN	Q	889	ENSP00000309572:R889Q	ENSP00000309572:R889Q	R	-	2	0	TERT	1317696	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.319000	0.08039	-0.558000	0.06118	-0.480000	0.04831	CGA		PASS	0.577	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			10	243	10	243	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5463329	5463329	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:5463329G>C	ENST00000296564.7	+	13	4104	c.3882G>C	c.(3880-3882)atG>atC	p.M1294I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1294					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)	p.M1294I(1)		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						ATAACAACATGACCACTGAGA	0.408																																						uc003jdm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3880-3882)ATG>ATC		hypothetical protein LOC23379							37.0	38.0	38.0					5																	5463329		1897	4118	6015	SO:0001583	missense	23379							g.chr5:5463329G>C																												ENST00000296564.7:c.3882G>C	5.37:g.5463329G>C	ENSP00000296564:p.Met1294Ile						p.M1294I	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	4104	+			1294					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3882G>C	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	5.244	0.230566	0.09969	.	.	ENSG00000164151	ENST00000296564	T	0.08720	3.06	4.86	-1.46	0.08800	.	.	.	.	.	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46693	-0.9173	9	0.15952	T	0.53	0.1729	1.7547	0.02980	0.293:0.1291:0.4318:0.1461	.	1294	Q9Y2F5	K0947_HUMAN	I	1294	ENSP00000296564:M1294I	ENSP00000296564:M1294I	M	+	3	0	KIAA0947	5516329	0.000000	0.05858	0.000000	0.03702	0.350000	0.29205	-0.050000	0.11904	-0.141000	0.11374	0.305000	0.20034	ATG		PASS	0.408	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			13	51	13	51	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11384923	11384923	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:11384923G>C	ENST00000304623.8	-	7	1220	c.1031C>G	c.(1030-1032)tCg>tGg	p.S344W	CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.S344W|CTNND2_ENST00000511377.1_Missense_Mutation_p.S253W|CTNND2_ENST00000495388.2_5'Flank|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	344					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S344W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGGATGGGCGAGGAGGAGAT	0.672																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1030-1032)TCG>TGG		catenin (cadherin-associated protein), delta 2							88.0	82.0	84.0					5																	11384923		2198	4299	6497	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.chr5:11384923G>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.1031C>G	5.37:g.11384923G>C	ENSP00000307134:p.Ser344Trp					CTNND2_uc010itt.2_Missense_Mutation_p.S253W|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	p.S344W	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			7	1176	-			344					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1031C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086927	0.76642	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377	D;D;D	0.82344	-1.52;-1.6;-1.6	4.19	3.31	0.37934	.	0.545451	0.16707	N	0.202877	D	0.86719	0.6000	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.85733	0.1332	10	0.87932	D	0	-4.8542	11.4453	0.50120	0.0912:0.0:0.9088:0.0	.	344	Q9UQB3	CTND2_HUMAN	W	344;344;253	ENSP00000307134:S344W;ENSP00000352661:S344W;ENSP00000426510:S253W	ENSP00000307134:S344W	S	-	2	0	CTNND2	11437923	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.878000	0.63093	0.752000	0.32923	0.462000	0.41574	TCG		PASS	0.672	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		6	46	6	46	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14488200	14488200	+	Missense_Mutation	SNP	C	C	G	rs140308852	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:14488200C>G	ENST00000344204.4	+	48	7487	c.7463C>G	c.(7462-7464)tCc>tGc	p.S2488C	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2488					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S2488C(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTGGAGCTCCATCCCCGCC	0.731																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(7462-7464)TCC>TGC		triple functional domain (PTPRF interacting)							7.0	9.0	8.0					5																	14488200		1824	3822	5646	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.chr5:14488200C>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.7463C>G	5.37:g.14488200C>G	ENSP00000339299:p.Ser2488Cys					TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.S2137C	p.S2488C	NM_007118	NP_009049	O75962	TRIO_HUMAN			48	7469	+	Lung NSC(4;0.000742)		2488					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7463C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	c	17.68	3.449125	0.63178	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T	0.66638	-0.22	4.99	4.99	0.66335	.	0.639679	0.16445	N	0.214112	T	0.71392	0.3334	N	0.20986	0.625	0.80722	D	1	P;B	0.44877	0.845;0.355	P;B	0.60286	0.872;0.142	T	0.71017	-0.4714	10	0.40728	T	0.16	.	18.2823	0.90102	0.0:1.0:0.0:0.0	.	2488;2488	O75962-5;O75962	.;TRIO_HUMAN	C	2488;2175	ENSP00000339299:S2488C	ENSP00000339299:S2488C	S	+	2	0	TRIO	14541200	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	4.804000	0.62554	2.310000	0.77875	0.556000	0.70494	TCC		PASS	0.731	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	30	5	30	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24505332	24505332	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:24505332G>A	ENST00000264463.4	-	8	1789	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L428F(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)		ATTCTGTCAAGGTCAGTATGG	0.363										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1282-1284)CTT>TTT		cadherin 10, type 2 preproprotein							94.0	91.0	92.0					5																	24505332		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.chr5:24505332G>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.1282C>T	5.37:g.24505332G>A	ENSP00000264463:p.Leu428Phe	HNSCC(23;0.051)				CDH10_uc011cnu.1_Intron	p.L428F	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1614	-			428			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1282C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228219	0.39399	.	.	ENSG00000040731	ENST00000264463	T	0.61040	0.14	5.57	4.7	0.59300	Cadherin (4);Cadherin-like (1);	0.131296	0.50627	D	0.000105	T	0.60843	0.2300	M	0.66297	2.02	0.41927	D	0.99054	B	0.24963	0.115	B	0.35278	0.199	T	0.62201	-0.6904	10	0.54805	T	0.06	.	13.1741	0.59615	0.076:0.0:0.924:0.0	.	428	Q9Y6N8	CAD10_HUMAN	F	428	ENSP00000264463:L428F	ENSP00000264463:L428F	L	-	1	0	CDH10	24541089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.318000	0.43779	1.338000	0.45544	0.655000	0.94253	CTT		PASS	0.363	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		65	74	65	74	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26916023	26916023	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:26916023C>G	ENST00000231021.4	-	3	410	c.238G>C	c.(238-240)Gac>Cac	p.D80H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D80H(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTATCTTGGTCAGTGTGAAGC	0.338																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(238-240)GAC>CAC		cadherin 9, type 2 preproprotein							63.0	64.0	64.0					5																	26916023		2203	4298	6501	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26916023C>G	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.238G>C	5.37:g.26916023C>G	ENSP00000231021:p.Asp80His					CDH9_uc010iug.2_Missense_Mutation_p.D80H	p.D80H	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	407	-			80			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.238G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448424	0.63178	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.74632	-0.86;-0.86;1.07	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.048692	0.85682	D	0.000000	D	0.92368	0.7578	H	0.99507	4.6	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.95795	0.8828	9	.	.	.	.	16.1588	0.81683	0.0:1.0:0.0:0.0	.	80;80	E7EPN0;Q9ULB4	.;CADH9_HUMAN	H	80	ENSP00000231021:D80H;ENSP00000426239:D80H;ENSP00000422538:D80H	.	D	-	1	0	CDH9	26951780	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.494000	0.66905	2.202000	0.70862	0.585000	0.79938	GAC		PASS	0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		123	109	123	109	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38932055	38932055	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:38932055G>A	ENST00000274276.3	+	16	2685	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	761					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)	p.L761L(1)		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)					TGTGCTACTTGAAAAGTCAGT	0.388																																						uc003jln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2281-2283)TTG>TTA		oncostatin M receptor precursor							178.0	163.0	168.0					5																	38932055		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.chr5:38932055G>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.2283G>A	5.37:g.38932055G>A						OSMR_uc011cpj.1_Intron	p.L761L	NM_003999	NP_003990	Q99650	OSMR_HUMAN			16	2650	+	all_lung(31;0.000365)		761			Helical; (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.2283G>A	CCDS3928.1																																																																																				PASS	0.388	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		20	225	20	225	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	T	rs561869170		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:45353208C>T	ENST00000303230.4	-	5	1428	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					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.L457L(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						TTACCTCTCTCAGAGGATCAT	0.343																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>CTA		hyperpolarization activated cyclic							107.0	99.0	102.0					5																	45353208		2201	4296	6497	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353208C>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.1371G>A	5.37:g.45353208C>T							p.L457L	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1396	-			457			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1371G>A	CCDS3952.1																																																																																				PASS	0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		15	170	15	170	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52374695	52374695	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:52374695C>T	ENST00000296585.5	+	24	3062	c.2919C>T	c.(2917-2919)ttC>ttT	p.F973F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	973					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|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)|virus receptor activity (GO:0001618)	p.F973F(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATTCATCTTCTCCCTGAAGG	0.368																																						uc003joy.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(2917-2919)TTC>TTT		integrin alpha 2 precursor							89.0	84.0	86.0					5																	52374695		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52374695C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2919C>T	5.37:g.52374695C>T						ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.F897F|ITGA2_uc011cqd.1_Intron|ITGA2_uc011cqe.1_RNA	p.F973F	NM_002203	NP_002194	P17301	ITA2_HUMAN			24	3062	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	973			Extracellular (Potential).		Q14595	Silent	SNP	ENST00000296585.5	37	c.2919C>T	CCDS3957.1																																																																																				PASS	0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		12	75	12	75	---	---	---	---
PPAP2A	8611	broad.mit.edu	37	5	54721826	54721826	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:54721826G>C	ENST00000307259.8	-	5	1011	c.591C>G	c.(589-591)ctC>ctG	p.L197L	PPAP2A_ENST00000264775.5_Silent_p.L198L	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	197					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.L198L(1)|p.L197L(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TGGGGCGTAAGAGTCTTGCCC	0.383																																						uc003jqa.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(589-591)CTC>CTG		phosphatidic acid phosphatase type 2A isoform 1							86.0	83.0	84.0					5																	54721826		2203	4300	6503	SO:0001819	synonymous_variant	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54721826G>C	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.591C>G	5.37:g.54721826G>C						PPAP2A_uc003jpz.2_Silent_p.L198L|PPAP2A_uc003jqb.2_RNA	p.L197L	NM_003711	NP_003702	O14494	LPP1_HUMAN			5	1007	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	197			Cytoplasmic (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Silent	SNP	ENST00000307259.8	37	c.591C>G	CCDS34159.1																																																																																				PASS	0.383	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1			15	100	15	100	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75591689	75591689	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:75591689G>A	ENST00000502798.2	+	9	1866	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.R475K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	475					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.R475K(1)		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)		AATGTGGAGAGAGATAAATAT	0.358																																						uc003kei.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1423-1425)AGA>AAA		synaptic vesicle glycoprotein 2C							134.0	128.0	130.0					5																	75591689		1853	4092	5945	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75591689G>A	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.1424G>A	5.37:g.75591689G>A	ENSP00000423541:p.Arg475Lys						p.R475K	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	9	1558	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	475			Extracellular (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.1424G>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	4.053	0.007634	0.07866	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.77229	-0.72;-1.08	5.77	0.24	0.15489	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.370901	0.33631	N	0.004718	T	0.56307	0.1976	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.05721	T	0.95	-6.5448	6.9133	0.24346	0.4116:0.1159:0.4726:0.0	.	475	Q496J9	SV2C_HUMAN	K	475	ENSP00000423541:R475K;ENSP00000316983:R475K	ENSP00000316983:R475K	R	+	2	0	SV2C	75627445	0.000000	0.05858	0.004000	0.12327	0.972000	0.66771	0.695000	0.25527	-0.171000	0.10797	-0.137000	0.14449	AGA		PASS	0.358	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			20	113	20	113	---	---	---	---
LYSMD3	116068	broad.mit.edu	37	5	89815272	89815272	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:89815272G>A	ENST00000315948.6	-	3	429	c.285C>T	c.(283-285)ctC>ctT	p.L95L	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	95						integral component of membrane (GO:0016021)		p.L95L(1)		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)		GATCACTGATGAGATTGTTAA	0.373																																						uc003kjr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(283-285)CTC>CTT		LysM, putative peptidoglycan-binding, domain							52.0	49.0	50.0					5																	89815272		1839	4073	5912	SO:0001819	synonymous_variant	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89815272G>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.285C>T	5.37:g.89815272G>A						LYSMD3_uc010jaz.1_Intron|LYSMD3_uc003kjs.1_Intron	p.L95L	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)	3	433	-		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)	95			Extracellular (Potential).|LysM.		Q5H9U0|Q6PEK0|Q9NTE9	Silent	SNP	ENST00000315948.6	37	c.285C>T	CCDS43338.1																																																																																				PASS	0.373	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		11	85	11	85	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89933761	89933761	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:89933761G>C	ENST00000405460.2	+	11	2332	c.2236G>C	c.(2236-2238)Gac>Cac	p.D746H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	746					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D746H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTTTCTCTAGACAGGTAATA	0.294																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(2236-2238)GAC>CAC		G protein-coupled receptor 98 precursor							76.0	68.0	70.0					5																	89933761		1833	4079	5912	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.chr5:89933761G>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.2236G>C	5.37:g.89933761G>C	ENSP00000384582:p.Asp746His					GPR98_uc003kjt.2_5'UTR	p.D746H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2332	+		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)	746			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2236G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976391|3.976391	0.74360|0.74360	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.27104|.	1.69|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.044686|.	0.85682|.	D|.	0.000000|.	T|T	0.66208|0.66208	0.2766|0.2766	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.64626|0.64626	-0.6363|-0.6363	10|5	0.66056|.	D|.	0.02|.	.|.	12.7381|12.7381	0.57236|0.57236	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	746|.	Q8WXG9|.	GPR98_HUMAN|.	H|T	746|334	ENSP00000384582:D746H|.	ENSP00000296619:D746H|.	D|R	+|+	1|2	0|0	GPR98|GPR98	89969517|89969517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.661000|5.661000	0.68025|0.68025	2.573000|2.573000	0.86826|0.86826	0.585000|0.585000	0.79938|0.79938	GAC|AGA		PASS	0.294	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	57	8	57	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89981778	89981778	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:89981778G>A	ENST00000405460.2	+	29	6552	c.6456G>A	c.(6454-6456)gtG>gtA	p.V2152V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2152	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V2152V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCTCTGTGAAGTTTAAAG	0.428																																						uc003kju.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6454-6456)GTG>GTA		G protein-coupled receptor 98 precursor							66.0	59.0	61.0					5																	89981778		1911	4119	6030	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.chr5:89981778G>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.6456G>A	5.37:g.89981778G>A						GPR98_uc003kjt.2_5'UTR	p.V2152V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6552	+		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)	2152			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.6456G>A	CCDS47246.1																																																																																				PASS	0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	26	7	26	---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121785556	121785556	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:121785556G>C	ENST00000261368.8	+	9	1871	c.1609G>C	c.(1609-1611)Gtc>Ctc	p.V537L	SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V584L|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V584L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V477L|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V171L|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V139L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V95L	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	537					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)	p.V584L(1)|p.V537L(1)		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)		AGTAGAACGTGTCACGCTGCA	0.403																																						uc003ksw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1609-1611)GTC>CTC		synuclein alpha interacting protein							176.0	177.0	177.0					5																	121785556		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.chr5:121785556G>C	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.1609G>C	5.37:g.121785556G>C	ENSP00000261368:p.Val537Leu					SNCAIP_uc011cwl.1_Missense_Mutation_p.V95L|SNCAIP_uc003ksx.1_Missense_Mutation_p.V584L|SNCAIP_uc003ksy.1_Missense_Mutation_p.V171L|SNCAIP_uc003ksz.1_Missense_Mutation_p.V171L|SNCAIP_uc010jcu.2_Missense_Mutation_p.V133L|SNCAIP_uc011cwm.1_Missense_Mutation_p.V171L|SNCAIP_uc003kta.1_Missense_Mutation_p.V169L|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.V231L|SNCAIP_uc010jcx.1_Missense_Mutation_p.V477L|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.V53L	p.V537L	NM_005460	NP_005451	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	1815	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	537			Potential.		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1609G>C	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291147	0.80914	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.14144	4.33;4.88;2.58;2.53;4.88;4.82;2.53;4.54	5.61	5.61	0.85477	.	0.144227	0.49305	D	0.000154	T	0.30727	0.0774	L	0.54323	1.7	0.40521	D	0.98083	B;D;P;P;P;P;D;P	0.64830	0.168;0.994;0.867;0.875;0.902;0.952;0.959;0.802	B;D;B;B;B;P;D;B	0.70716	0.028;0.97;0.22;0.341;0.309;0.476;0.949;0.184	T	0.00754	-1.1580	10	0.46703	T	0.11	-23.4967	12.9075	0.58160	0.074:0.0:0.926:0.0	.	477;165;139;477;171;171;584;537	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	L	95;477;537;584;477;171;584;139;177	ENSP00000441681:V95L;ENSP00000422106:V477L;ENSP00000261368:V537L;ENSP00000368848:V584L;ENSP00000368851:V477L;ENSP00000368854:V171L;ENSP00000261367:V584L;ENSP00000394392:V139L	ENSP00000261367:V584L	V	+	1	0	SNCAIP	121813455	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.813000	0.55636	2.642000	0.89623	0.650000	0.86243	GTC		PASS	0.403	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			89	123	89	123	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131552898	131552898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:131552898G>C	ENST00000401867.1	-	5	891	c.323C>G	c.(322-324)tCa>tGa	p.S108*	P4HA2_ENST00000166534.4_Nonsense_Mutation_p.S108*|P4HA2_ENST00000379104.2_Nonsense_Mutation_p.S108*|P4HA2_ENST00000379086.1_Nonsense_Mutation_p.S108*|P4HA2_ENST00000360568.3_Nonsense_Mutation_p.S108*|P4HA2_ENST00000379100.2_Nonsense_Mutation_p.S108*			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	108					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)	p.S108*(1)		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)	ACCTGCAGCTGAGTCCTGCAG	0.577																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(322-324)TCA>TGA		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						123.0	103.0	110.0					5																	131552898		2203	4300	6503	SO:0001587	stop_gained	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.chr5:131552898G>C	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.323C>G	5.37:g.131552898G>C	ENSP00000384999:p.Ser108*					P4HA2_uc003kwg.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwi.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwk.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwl.2_Nonsense_Mutation_p.S108*|P4HA2_uc003kwj.2_Nonsense_Mutation_p.S108*	p.S108*	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	887	-		all_cancers(142;0.103)|Breast(839;0.198)	108					D3DQ85|D3DQ86|Q8WWN0	Nonsense_Mutation	SNP	ENST00000401867.1	37	c.323C>G	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	40	7.983548	0.98594	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054;ENST00000439698;ENST00000395164;ENST00000453286;ENST00000428369;ENST00000418055	.	.	.	6.17	4.4	0.53042	.	0.567989	0.20678	N	0.087709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-13.3416	12.5407	0.56167	0.1328:0.0:0.8672:0.0	.	.	.	.	X	108;108;108;108;108;108;108;140;108;108;108;108;108	.	ENSP00000166534:S108X	S	-	2	0	P4HA2	131580797	0.996000	0.38824	0.440000	0.26846	0.891000	0.51852	5.415000	0.66411	1.632000	0.50472	0.655000	0.94253	TCA		PASS	0.577	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		15	141	15	141	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803577	137803577	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:137803577C>T	ENST00000239938.4	+	2	1711	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	480					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)	p.S480L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cccggctcctcgacctaccca	0.642																																						uc003ldb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1438-1440)TCG>TTG		early growth response 1							138.0	119.0	125.0					5																	137803577		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.chr5:137803577C>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.1439C>T	5.37:g.137803577C>T	ENSP00000239938:p.Ser480Leu					EGR1_uc011cyu.1_Intron	p.S480L	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1709	+			480						Missense_Mutation	SNP	ENST00000239938.4	37	c.1439C>T	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154812	0.57259	.	.	ENSG00000120738	ENST00000239938	T	0.09817	2.94	4.24	4.24	0.50183	.	0.067588	0.64402	D	0.000008	T	0.30665	0.0772	L	0.61218	1.895	0.54753	D	0.999985	D	0.89917	1.0	D	0.85130	0.997	T	0.05273	-1.0895	10	0.87932	D	0	-10.4404	15.8235	0.78678	0.0:1.0:0.0:0.0	.	480	P18146	EGR1_HUMAN	L	480	ENSP00000239938:S480L	ENSP00000239938:S480L	S	+	2	0	EGR1	137831476	1.000000	0.71417	0.895000	0.35142	0.797000	0.45037	7.651000	0.83577	2.193000	0.70182	0.655000	0.94253	TCG		PASS	0.642	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		14	111	14	111	---	---	---	---
CTNNA1	1495	broad.mit.edu	37	5	138268336	138268336	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:138268336C>T	ENST00000302763.7	+	17	2458	c.2368C>T	c.(2368-2370)Ctg>Ttg	p.L790L	CTNNA1_ENST00000540387.1_Silent_p.L420L|CTNNA1_ENST00000355078.5_Silent_p.L687L|CTNNA1_ENST00000518825.1_Silent_p.L790L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	790					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)	p.L790L(1)		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)			CTGCCACCAGCTGAACATCTG	0.572																																						uc003ldh.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(2368-2370)CTG>TTG		catenin, alpha 1							64.0	58.0	61.0					5																	138268336		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:138268336C>T	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.2368C>T	5.37:g.138268336C>T						CTNNA1_uc011cyx.1_Silent_p.L687L|CTNNA1_uc011cyy.1_Silent_p.L667L|CTNNA1_uc003ldi.2_Silent_p.L488L|CTNNA1_uc003ldj.2_Silent_p.L790L|CTNNA1_uc003ldl.2_Silent_p.L420L	p.L790L	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		17	2463	+			790					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.2368C>T	CCDS34243.1																																																																																				PASS	0.572	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		5	57	5	57	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139918523	139918523	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:139918523A>G	ENST00000360839.2	+	33	7578	c.7424A>G	c.(7423-7425)tAt>tGt	p.Y2475C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y2475C|ANKHD1_ENST00000297183.6_Missense_Mutation_p.Y2475C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.Y799C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2475						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y2475C(2)		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)			ATTTCCATGTATGGAGGCACC	0.383																																						uc003lfs.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(7423-7425)TAT>TGT		ANKHD1-EIF4EBP3 protein							85.0	78.0	81.0					5																	139918523		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139918523A>G	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.7424A>G	5.37:g.139918523A>G	ENSP00000354085:p.Tyr2475Cys					ANKHD1_uc003lfr.2_Missense_Mutation_p.Y2475C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.Y1231C|ANKHD1_uc003lfw.2_Missense_Mutation_p.Y1130C|ANKHD1_uc010jfl.2_Missense_Mutation_p.Y851C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.Y620C	p.Y2475C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	7548	+			2475					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.7424A>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.02|15.02	2.709365|2.709365	0.48517|0.48517	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000421706|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|D;D;T;T;T;D;T	.|0.85258	.|-1.64;-1.96;0.51;0.5;0.01;-1.96;-0.65	5.87|5.87	4.7|4.7	0.59300|0.59300	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90445|0.90445	0.7008|0.7008	L|L	0.61218|0.61218	1.895|1.895	0.51767|0.51767	D|D	0.999939|0.999939	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.998;0.997;0.999	.|D;D;D;P;P;D	.|0.91635	.|0.998;0.998;0.999;0.819;0.819;0.994	D|D	0.90651|0.90651	0.4582|0.4582	5|10	.|0.87932	.|D	.|0	.|.	12.4221|12.4221	0.55525|0.55525	0.874:0.0:0.0:0.1259|0.874:0.0:0.0:0.1259	.|.	.|799;922;799;2492;2475;2475	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	V|C	133|2475;2475;2492;1148;1005;799;2475;494	.|ENSP00000354085:Y2475C;ENSP00000297183:Y2475C;ENSP00000393204:Y1148C;ENSP00000390034:Y1005C;ENSP00000437687:Y799C;ENSP00000432016:Y2475C;ENSP00000396882:Y494C	.|ENSP00000396882:Y494C	M|Y	+|+	1|2	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139898707|139898707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.018000|7.018000	0.76406|0.76406	1.024000|1.024000	0.39682|0.39682	-0.336000|-0.336000	0.08194|0.08194	ATG|TAT		PASS	0.383	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		30	51	30	51	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215333	140215333	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:140215333C>G	ENST00000525929.1	+	1	1365	c.1365C>G	c.(1363-1365)ttC>ttG	p.F455L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F455L|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	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)	p.F455L(2)		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)			CCCCGGCGTTCGCGCAGCCCG	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1363-1365)TTC>TTG		protocadherin alpha 7 isoform 1 precursor							57.0	61.0	60.0					5																	140215333		2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215333C>G	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.1365C>G	5.37:g.140215333C>G	ENSP00000436426:p.Phe455Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.F455L	p.F455L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1365	+			455			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1365C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497388	0.26861	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.78707	-1.2;-1.2	4.0	3.11	0.35812	Cadherin (3);Cadherin-like (1);	0.000000	0.33438	U	0.004918	D	0.88998	0.6590	M	0.93898	3.47	0.27168	N	0.960988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.81274	-0.1007	10	0.87932	D	0	.	7.6834	0.28526	0.0:0.7303:0.0:0.2697	.	455;455	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	455	ENSP00000436426:F455L;ENSP00000367365:F455L	ENSP00000367365:F455L	F	+	3	2	PCDHA7	140195517	0.001000	0.12720	0.039000	0.18376	0.004000	0.04260	-0.094000	0.11094	0.771000	0.33359	0.298000	0.19748	TTC		PASS	0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		48	64	48	64	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140237240	140237240	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:140237240C>T	ENST00000307360.5	+	1	1607	c.1607C>T	c.(1606-1608)gCg>gTg	p.A536V	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	536	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)	p.A536V(1)|p.?(1)		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)			CAGGTGAGCGCGCGCGATGGG	0.677																																						uc003lhx.2																			2	Substitution - Missense(1)|Unknown(1)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1606-1608)GCG>GTG		protocadherin alpha 10 isoform 1 precursor							53.0	59.0	57.0					5																	140237240		2196	4265	6461	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237240C>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.1607C>T	5.37:g.140237240C>T	ENSP00000304234:p.Ala536Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A536V	p.A536V	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1607	+			536			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1607C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220201	0.58560	.	.	ENSG00000250120	ENST00000307360	T	0.73363	-0.74	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.86083	0.5848	M	0.82433	2.59	0.37822	D	0.928404	D;D	0.69078	0.986;0.997	D;D	0.69142	0.962;0.936	D	0.90281	0.4315	9	0.72032	D	0.01	.	15.8439	0.78871	0.0:1.0:0.0:0.0	.	536;536	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	536	ENSP00000304234:A536V	ENSP00000304234:A536V	A	+	2	0	PCDHA10	140217424	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	5.385000	0.66231	2.007000	0.58848	0.561000	0.74099	GCG		PASS	0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		37	66	37	66	---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140953218	140953218	+	Silent	SNP	G	G	A	rs368848606		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:140953218G>A	ENST00000398557.4	-	16	2339	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	DIAPH1_ENST00000389057.5_Silent_p.P724P|DIAPH1_ENST00000398562.2_Silent_p.P712P|DIAPH1_ENST00000398566.3_Silent_p.P724P|DIAPH1_ENST00000389054.3_Silent_p.P733P|DIAPH1_ENST00000518047.1_Silent_p.P724P|DIAPH1_ENST00000520569.1_Silent_p.P679P|DIAPH1_ENST00000253811.6_Silent_p.P733P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	733	FH1.				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)	p.P733P(1)		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)			CAGGGCCTCCGGGAAATGGAG	0.612																																						uc003llb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2197-2199)CCC>CCT		diaphanous 1 isoform 1			,	0,3770		0,0,1885	24.0	27.0	26.0		2172,2199	-2.2	1.0	5		26	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous	DIAPH1	NM_001079812.2,NM_005219.4	,	0,1,5994	AA,AG,GG		0.0122,0.0,0.0083	,	724/1264,733/1273	140953218	1,11989	1885	4110	5995	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140953218G>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.2199C>T	5.37:g.140953218G>A						DIAPH1_uc003llc.3_Silent_p.P724P|DIAPH1_uc010jgc.1_Silent_p.P172P	p.P733P	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	2340	-			733			FH1.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.2199C>T	CCDS43374.1																																																																																				PASS	0.612	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		7	28	7	28	---	---	---	---
PDGFRB	5159	broad.mit.edu	37	5	149515421	149515421	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:149515421G>A	ENST00000261799.4	-	3	530	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	21					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.L21F(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTAACAGGAGAGACAGCAAC	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(61-63)CTC>TTC		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						28.0	28.0	28.0					5																	149515421		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.chr5:149515421G>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.61C>T	5.37:g.149515421G>A	ENSP00000261799:p.Leu21Phe					PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.L21F	p.L21F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	530	-		all_hematologic(541;0.224)	21					B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.61C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068949	0.36470	.	.	ENSG00000113721	ENST00000261799;ENST00000517957	T;T	0.77229	-1.08;2.09	4.94	2.06	0.26882	.	0.201083	0.24886	N	0.034810	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	P;B	0.44877	0.845;0.19	B;B	0.38428	0.273;0.11	T	0.45731	-0.9241	10	0.33141	T	0.24	.	2.127	0.03741	0.1772:0.1602:0.5085:0.1541	.	21;21	B5A957;P09619	.;PGFRB_HUMAN	F	21	ENSP00000261799:L21F;ENSP00000430715:L21F	ENSP00000261799:L21F	L	-	1	0	PDGFRB	149495614	0.714000	0.27936	0.925000	0.36789	0.354000	0.29330	1.051000	0.30417	0.176000	0.19873	0.561000	0.74099	CTC		PASS	0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		8	33	8	33	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150946710	150946710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:150946710G>A	ENST00000261800.5	-	1	1795	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q595*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTAGGTTCTGAAGCTCATCC	0.413																																						uc003lue.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1783-1785)CAG>TAG		FAT tumor suppressor 2 precursor							101.0	102.0	102.0					5																	150946710		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946710G>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.1783C>T	5.37:g.150946710G>A	ENSP00000261800:p.Gln595*					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.Q595*	p.Q595*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1796	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	595			Extracellular (Potential).|Cadherin 5.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.1783C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	39	7.515761	0.98332	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.75	5.75	0.90469	.	0.207411	0.34110	N	0.004248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.9392	0.97153	0.0:0.0:1.0:0.0	.	.	.	.	X	595	.	ENSP00000261800:Q595X	Q	-	1	0	FAT2	150926903	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.550000	0.60733	2.713000	0.92767	0.655000	0.94253	CAG		PASS	0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		15	112	15	112	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153030008	153030008	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:153030008G>A	ENST00000285900.5	+	4	922	c.579G>A	c.(577-579)gaG>gaA	p.E193E	GRIA1_ENST00000340592.5_Silent_p.E193E|GRIA1_ENST00000448073.4_Silent_p.E203E|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.E203E|GRIA1_ENST00000518142.1_Silent_p.E113E|GRIA1_ENST00000521843.2_Silent_p.E124E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	193					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.E193E(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)	AGGACCTGGAGAAGAAAAAGG	0.537																																						uc003lva.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(577-579)GAG>GAA		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						109.0	105.0	106.0					5																	153030008		2203	4300	6503	SO:0001819	synonymous_variant	2890				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.chr5:153030008G>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.579G>A	5.37:g.153030008G>A						GRIA1_uc003luy.3_Silent_p.E193E|GRIA1_uc003luz.3_Silent_p.E98E|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Silent_p.E113E|GRIA1_uc011dcx.1_Silent_p.E124E|GRIA1_uc011dcy.1_Silent_p.E203E|GRIA1_uc011dcz.1_Silent_p.E203E|GRIA1_uc010jia.1_Silent_p.E173E	p.E193E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	944	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	193			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.579G>A	CCDS4322.1																																																																																				PASS	0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			7	74	7	74	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	155935666	155935666	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:155935666C>A	ENST00000435422.3	+	3	732	c.245C>A	c.(244-246)tCt>tAt	p.S82Y	SGCD_ENST00000447401.1_Missense_Mutation_p.S83Y|SGCD_ENST00000517913.1_Missense_Mutation_p.S83Y|SGCD_ENST00000337851.4_Missense_Mutation_p.S83Y	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	82					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)		p.S83Y(1)		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)			GAAGGAGACTCTGAATTCTTA	0.408																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)TCT>TAT		delta-sarcoglycan isoform 3							110.0	98.0	102.0					5																	155935666		1851	4106	5957	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155935666C>A	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.245C>A	5.37:g.155935666C>A	ENSP00000403003:p.Ser82Tyr					SGCD_uc003lwa.1_Missense_Mutation_p.S83Y|SGCD_uc003lwb.2_Missense_Mutation_p.S83Y|SGCD_uc003lwc.3_Missense_Mutation_p.S83Y	p.S82Y	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	721	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	82			Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.245C>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740389	0.89573	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.49	5.49	0.81192	.	0.139039	0.50627	D	0.000120	D	0.97517	0.9187	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.996;0.994;0.999	D;D;D	0.83275	0.99;0.983;0.996	D	0.97599	1.0122	10	0.56958	D	0.05	-16.5561	17.9142	0.88944	0.0:1.0:0.0:0.0	.	82;83;83	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Y	83;82;83;83	ENSP00000429378:S83Y;ENSP00000403003:S82Y;ENSP00000338343:S83Y;ENSP00000408324:S83Y	ENSP00000338343:S83Y	S	+	2	0	SGCD	155868244	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.380000	0.79704	2.732000	0.93576	0.585000	0.79938	TCT		PASS	0.408	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			3	37	3	37	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169697832	169697832	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:169697832G>T	ENST00000046794.5	-	7	1029	c.414C>A	c.(412-414)ccC>ccA	p.P138P		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	138					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.P138P(6)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCTTCCACGGGTGCCTCTT	0.547																																						uc003man.1																			6	Substitution - coding silent(6)		lung(6)	ovary(1)	1						c.(412-414)CCC>CCA		lymphocyte cytosolic protein 2							86.0	105.0	99.0					5																	169697832		2146	4246	6392	SO:0001819	synonymous_variant	3937				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	g.chr5:169697832G>T		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.414C>A	5.37:g.169697832G>T						LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	p.P138P	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)	7	621	-	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	138					A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	c.414C>A	CCDS47339.1																																																																																				PASS	0.547	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565		22	32	22	32	---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176300995	176300995	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr5:176300995C>A	ENST00000329542.4	+	7	1187	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	UNC5A_ENST00000261961.3_Missense_Mutation_p.L265I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	305					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)		p.L305I(1)		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)			GGACGTGGCCCTCTATGTGGG	0.627																																						uc003mey.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(913-915)CTC>ATC		netrin receptor Unc5h1 precursor							96.0	81.0	86.0					5																	176300995		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176300995C>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.913C>A	5.37:g.176300995C>A	ENSP00000332737:p.Leu305Ile					UNC5A_uc010jkg.1_Missense_Mutation_p.L265I	p.L305I	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1105	+	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)	305			Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.913C>A	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.527256|4.527256	0.85706|0.85706	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000329542;ENST00000261961|ENST00000509580	T;T|.	0.56941|.	0.43;0.79|.	5.3|5.3	4.43|4.43	0.53597|0.53597	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74199|0.74199	0.3685|0.3685	M|M	0.79475|0.79475	2.455|2.455	0.49798|0.49798	D|D	0.999824|0.999824	D;D|.	0.89917|.	0.987;1.0|.	D;D|.	0.87578|.	0.944;0.998|.	T|T	0.75525|0.75525	-0.3287|-0.3287	10|5	0.52906|.	T|.	0.07|.	-27.0982|-27.0982	13.7705|13.7705	0.63021|0.63021	0.0:0.9252:0.0:0.0748|0.0:0.9252:0.0:0.0748	.|.	265;305|.	Q6ZN44-3;Q6ZN44|.	.;UNC5A_HUMAN|.	I|H	305;265|326	ENSP00000332737:L305I;ENSP00000261961:L265I|.	ENSP00000261961:L265I|.	L|P	+|+	1|2	0|0	UNC5A|UNC5A	176233601|176233601	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	4.607000|4.607000	0.61133|0.61133	1.227000|1.227000	0.43598|0.43598	0.491000|0.491000	0.48974|0.48974	CTC|CCT		PASS	0.627	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		18	42	18	42	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7355299	7355299	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:7355299C>G	ENST00000512086.1	-	9	2360	c.2158G>C	c.(2158-2160)Gca>Cca	p.A720P	CAGE1_ENST00000338150.4_Missense_Mutation_p.A747P|CAGE1_ENST00000379918.4_Missense_Mutation_p.A760P|CAGE1_ENST00000502583.1_Missense_Mutation_p.A782P|CAGE1_ENST00000296742.7_Missense_Mutation_p.A584P			Q8TC20	CAGE1_HUMAN	cancer antigen 1	720								p.A747P(1)|p.A782P(1)|p.A584P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TGGGATATTGCAAGCCTTTGG	0.279																																						uc003mxi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1750-1752)GCA>CCA		cancer antigen 1							108.0	103.0	104.0					6																	7355299		1821	4079	5900	SO:0001583	missense	285782							g.chr6:7355299C>G	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2158G>C	6.37:g.7355299C>G	ENSP00000427583:p.Ala720Pro					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.A537P|CAGE1_uc003mxk.1_Missense_Mutation_p.A502P	p.A584P	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			8	2471	-	Ovarian(93;0.0418)		720					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1750G>C		.	.	.	.	.	.	.	.	.	.	C	12.17	1.857649	0.32791	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150	T;T;T;T;T	0.33654	1.45;1.4;1.47;1.47;1.46	4.9	-0.698	0.11280	.	0.964854	0.08518	N	0.933931	T	0.08403	0.0209	N	0.22421	0.69	0.09310	N	1	P;B;B	0.35982	0.531;0.399;0.399	B;B;B	0.35353	0.201;0.092;0.092	T	0.27020	-1.0086	10	0.37606	T	0.19	-0.0184	5.8515	0.18696	0.0:0.334:0.4626:0.2034	.	747;782;720	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	P	720;760;782;584;720;747	ENSP00000369250:A760P;ENSP00000425493:A782P;ENSP00000296742:A584P;ENSP00000427583:A720P;ENSP00000338107:A747P	ENSP00000296742:A584P	A	-	1	0	CAGE1	7300298	0.000000	0.05858	0.003000	0.11579	0.496000	0.33645	-0.759000	0.04761	-0.347000	0.08299	-0.136000	0.14681	GCA		PASS	0.279	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		15	81	15	81	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7569565	7569565	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:7569565C>T	ENST00000379802.3	+	12	1907	c.1566C>T	c.(1564-1566)ctC>ctT	p.L522L	DSP_ENST00000418664.2_Silent_p.L522L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	522	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)	p.L522L(1)		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)		CCGTGGACCTCTCTTGCAAGT	0.567																																						uc003mxp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1564-1566)CTC>CTT		desmoplakin isoform I							118.0	103.0	109.0					6																	7569565		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.chr6:7569565C>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.1566C>T	6.37:g.7569565C>T						DSP_uc003mxq.1_Silent_p.L522L	p.L522L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	12	1845	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	522			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1566C>T	CCDS4501.1																																																																																				PASS	0.567	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		23	102	23	102	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25492188	25492188	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:25492188C>A	ENST00000329474.6	+	15	1524	c.1156C>A	c.(1156-1158)Ctt>Att	p.L386I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	386					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)	p.L386I(2)		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						CTGTGGAGCTCTTCTCCGTGG	0.413																																						uc011djw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(1156-1158)CTT>ATT		leucine rich repeat containing 16A							132.0	121.0	125.0					6																	25492188		1857	4105	5962	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25492188C>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.1156C>A	6.37:g.25492188C>A	ENSP00000331983:p.Leu386Ile					LRRC16A_uc010jpx.2_Missense_Mutation_p.L386I|LRRC16A_uc010jpy.2_Missense_Mutation_p.L386I	p.L386I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			15	1532	+			386					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1156C>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824250	0.90955	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.52754	0.65	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.67397	2.05	0.80722	D	1	P;D;D	0.60160	0.941;0.987;0.98	B;P;P	0.50754	0.446;0.565;0.649	T	0.57447	-0.7810	10	0.72032	D	0.01	.	19.7236	0.96153	0.0:1.0:0.0:0.0	.	386;386;386	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	386	ENSP00000331983:L386I	ENSP00000331983:L386I	L	+	1	0	LRRC16A	25600167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.734000	0.74801	2.730000	0.93505	0.655000	0.94253	CTT		PASS	0.413	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		11	60	11	60	---	---	---	---
HIST1H1B	3009	broad.mit.edu	37	6	27835170	27835170	+	Silent	SNP	C	C	G	rs374541448		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:27835170C>G	ENST00000331442.3	-	1	189	c.138G>C	c.(136-138)ctG>ctC	p.L46L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	46	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)	p.L46L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTGGTGATCAGCTCTGAGA	0.602																																						uc003njx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(136-138)CTG>CTC		histone cluster 1, H1b							58.0	66.0	63.0					6																	27835170		2202	4300	6502	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835170C>G	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.138G>C	6.37:g.27835170C>G							p.L46L	NM_005322	NP_005313	P16401	H15_HUMAN			1	190	-			46			H15.		Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.138G>C	CCDS4635.1																																																																																				PASS	0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		35	108	35	108	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28297319	28297319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:28297319G>A	ENST00000414429.1	-	6	1045	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	ZSCAN31_ENST00000439158.1_Nonsense_Mutation_p.Q48*|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Nonsense_Mutation_p.Q48*|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000344279.6_Nonsense_Mutation_p.Q48*			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	48	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q48*(1)									GGAGTCTCTTGGTAACAAAAC	0.517																																						uc003nla.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(142-144)CAA>TAA		zinc finger protein 323							107.0	118.0	114.0					6																	28297319		2203	4300	6503	SO:0001587	stop_gained	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297319G>A		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.142C>T	6.37:g.28297319G>A	ENSP00000390076:p.Gln48*					ZNF323_uc003nld.2_Nonsense_Mutation_p.Q48*|ZNF323_uc010jra.2_Nonsense_Mutation_p.Q48*|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Nonsense_Mutation_p.Q48*	p.Q48*	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	542	-			48			SCAN box.		Q6P178|Q8WWS5	Nonsense_Mutation	SNP	ENST00000414429.1	37	c.142C>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957027	0.92726	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	.	.	.	4.38	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.8749	0.24141	0.0:0.3026:0.406:0.2915	.	.	.	.	X	48	.	ENSP00000345339:Q48X	Q	-	1	0	ZNF323	28405298	0.326000	0.24669	0.810000	0.32431	0.994000	0.84299	0.139000	0.16036	0.925000	0.37094	0.563000	0.77884	CAA		PASS	0.517	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		9	257	9	257	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29572676	29572676	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:29572676G>C	ENST00000377034.4	-	21	2864	c.2529C>G	c.(2527-2529)ttC>ttG	p.F843L	GABBR1_ENST00000355973.3_Missense_Mutation_p.F726L|GABBR1_ENST00000377016.4_Missense_Mutation_p.F781L|GABBR1_ENST00000377012.4_Missense_Mutation_p.F726L|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	843					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.F843L(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)	TATAGGAGGAGAAAACTATGG	0.512																																						uc003nmt.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)|skin(1)	7						c.(2527-2529)TTC>TTG		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						150.0	100.0	118.0					6																	29572676		1511	2709	4220	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29572676G>C	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.2529C>G	6.37:g.29572676G>C	ENSP00000366233:p.Phe843Leu					GABBR1_uc003nmp.3_Missense_Mutation_p.F726L|GABBR1_uc003nms.3_Missense_Mutation_p.F726L|GABBR1_uc003nmu.3_Missense_Mutation_p.F781L|GABBR1_uc011dlr.1_Missense_Mutation_p.F666L	p.F843L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			21	2865	-			843			Helical; Name=7; (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.2529C>G	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251576	0.59212	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.16	1.98	0.26296	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	L	0.55481	1.735	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.619	D;D;P	0.76071	0.984;0.987;0.625	D	0.85673	0.1296	10	0.56958	D	0.05	-36.3274	7.8719	0.29571	0.329:0.0:0.671:0.0	.	781;843;726	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	L	726;781;726;843	ENSP00000348248:F726L;ENSP00000366215:F781L;ENSP00000366211:F726L;ENSP00000366233:F843L	ENSP00000348248:F726L	F	-	3	2	GABBR1	29680655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.960000	0.63673	0.659000	0.30945	0.655000	0.94253	TTC		PASS	0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			14	80	14	80	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30672587	30672587	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:30672587G>T	ENST00000376406.3	-	10	5020	c.4373C>A	c.(4372-4374)tCc>tAc	p.S1458Y	MDC1_ENST00000376405.2_Missense_Mutation_p.S1194Y|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1458	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.S1458Y(1)		breast(2)|kidney(1)|ovary(1)	4						TGTGGAGGTGGAAGGCTGGAG	0.567								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(4372-4374)TCC>TAC	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							113.0	124.0	120.0					6																	30672587		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.chr6:30672587G>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.4373C>A	6.37:g.30672587G>T	ENSP00000365588:p.Ser1458Tyr					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1065Y	p.S1458Y	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4813	-			1458			Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4373C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422355	0.43020	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.14022	2.54;2.54	4.46	0.355	0.16069	.	.	.	.	.	T	0.15739	0.0379	M	0.71581	2.175	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.74674	0.984;0.921	T	0.04825	-1.0924	9	0.62326	D	0.03	1.3723	5.1351	0.14930	0.1897:0.3233:0.487:0.0	.	1194;1458	Q14676-2;Q14676	.;MDC1_HUMAN	Y	1458;1194;1171;1024	ENSP00000365588:S1458Y;ENSP00000365587:S1194Y	ENSP00000365587:S1194Y	S	-	2	0	MDC1	30780566	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.867000	0.27968	-0.041000	0.13558	0.449000	0.29647	TCC		PASS	0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		21	238	21	238	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30673549	30673549	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:30673549G>C	ENST00000376406.3	-	10	4058	c.3411C>G	c.(3409-3411)gtC>gtG	p.V1137V	MDC1_ENST00000376405.2_Silent_p.V873V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1137	Pro-rich.			Missing (in Ref. 2; CAH18685). {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)	p.V1137V(1)		breast(2)|kidney(1)|ovary(1)	4						GCTTGGGAGTGACTGGCTGGG	0.577								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(3409-3411)GTC>GTG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							130.0	145.0	140.0					6																	30673549		2203	4300	6503	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.chr6:30673549G>C	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.3411C>G	6.37:g.30673549G>C						MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.V744V	p.V1137V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	3851	-			1137	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.3411C>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	5.834	0.338132	0.11069	.	.	ENSG00000137337	ENST00000417033	.	.	.	3.83	-5.16	0.02857	.	.	.	.	.	T	0.05914	0.0154	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32241	-0.9914	4	.	.	.	1.3248	1.7895	0.03048	0.4611:0.1364:0.2646:0.1379	.	.	.	.	D	198	.	.	H	-	1	0	MDC1	30781528	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.193000	0.09573	-0.869000	0.04052	0.423000	0.28283	CAC		PASS	0.577	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		33	253	33	253	---	---	---	---
PSORS1C1	170679	broad.mit.edu	37	6	31083910	31083910	+	Intron	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:31083910G>T	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.I494I|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.I494I(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGCGGCAGGGGATCTTTCCAG	0.607																																						uc003nsm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1480-1482)ATC>ATA		corneodesmosin precursor							38.0	39.0	39.0					6																	31083910		1924	3802	5726	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31083910G>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+1242G>T	6.37:g.31083910G>T						PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	p.I494I	NM_001264	NP_001255	Q15517	CDSN_HUMAN			2	1509	-			494					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1482C>A	CCDS34390.1																																																																																				PASS	0.607	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		16	65	16	65	---	---	---	---
BAG6	7917	broad.mit.edu	37	6	31607333	31607333	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:31607333C>T	ENST00000375964.6	-	24	3560	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K	BAG6_ENST00000439687.2_Intron|BAG6_ENST00000375976.4_Missense_Mutation_p.E1077K|BAG6_ENST00000404765.2_Missense_Mutation_p.E1113K|BAG6_ENST00000211379.5_Missense_Mutation_p.E1077K|BAG6_ENST00000362049.6_Intron|BAG6_ENST00000470875.1_5'Flank	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1083					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.E1077K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CTCAGGCTCTCGGGGCTCGTC	0.652																																						uc003nvg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3247-3249)GAG>AAG		HLA-B associated transcript-3 isoform a							70.0	69.0	70.0					6																	31607333		2203	4300	6503	SO:0001583	missense	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.chr6:31607333C>T	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.3247G>A	6.37:g.31607333C>T	ENSP00000365131:p.Glu1083Lys					BAT3_uc003nvf.3_Missense_Mutation_p.E1077K|BAT3_uc003nvh.3_Missense_Mutation_p.E1077K|BAT3_uc003nvi.3_Missense_Mutation_p.E1077K|BAT3_uc011dnw.1_Intron|BAT3_uc011dnx.1_Intron	p.E1083K	NM_004639	NP_004630	P46379	BAG6_HUMAN			24	3561	-			1083					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.3247G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344681	0.82022	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765	T;T;T;T	0.41400	1.05;1.03;1.05;1.0	5.25	5.25	0.73442	.	0.213448	0.49916	D	0.000138	T	0.37348	0.1000	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.56563	0.636;0.801	T	0.04065	-1.0980	10	0.34782	T	0.22	.	17.7869	0.88540	0.0:1.0:0.0:0.0	.	1083;1077	P46379;P46379-2	BAG6_HUMAN;.	K	1077;1083;1077;1113	ENSP00000365143:E1077K;ENSP00000365131:E1083K;ENSP00000211379:E1077K;ENSP00000384494:E1113K	ENSP00000211379:E1077K	E	-	1	0	BAG6	31715312	0.994000	0.37717	1.000000	0.80357	0.980000	0.70556	3.233000	0.51311	2.744000	0.94065	0.563000	0.77884	GAG		PASS	0.652	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		11	104	11	104	---	---	---	---
BTNL2	56244	broad.mit.edu	37	6	32374847	32374847	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:32374847G>A	ENST00000374993.1	-	1	53	c.54C>T	c.(52-54)ttC>ttT	p.F18F	BTNL2_ENST00000374995.3_Silent_p.F18F|BTNL2_ENST00000454136.3_Silent_p.F18F|BTNL2_ENST00000540315.1_Silent_p.F18F|BTNL2_ENST00000429232.2_Silent_p.F18F|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000414363.1_Silent_p.F18F	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	18						integral component of membrane (GO:0016021)		p.F18F(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGCAGGATGAATAGGAAGG	0.493																																						uc003obg.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(52-54)TTC>TTT		butyrophilin-like 2							185.0	175.0	178.0					6																	32374847		1511	2709	4220	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32374847G>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.54C>T	6.37:g.32374847G>A						BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.F18F	p.F18F	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			1	54	-			18			Helical; Signal-anchor for type II membrane protein; (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.54C>T																																																																																					PASS	0.493	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		19	156	19	156	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133405	33133405	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:33133405C>T	ENST00000374708.4	-	61	4671	c.4413G>A	c.(4411-4413)atG>atA	p.M1471I	COL11A2_ENST00000341947.2_Missense_Mutation_p.M1557I|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.M1476I|COL11A2_ENST00000374714.1_Missense_Mutation_p.M1531I|COL11A2_ENST00000357486.1_Missense_Mutation_p.M1536I|COL11A2_ENST00000395197.1_Missense_Mutation_p.M1497I|COL11A2_ENST00000361917.1_Missense_Mutation_p.M1450I|COL11A2_ENST00000374713.1_Missense_Mutation_p.M1510I	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1557	Collagen-like 8.|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)	p.M1557I(1)		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						TTGGCCGCCTCATCTGCTCGA	0.657																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(4669-4671)ATG>ATA		collagen, type XI, alpha 2 isoform 1							63.0	63.0	63.0					6																	33133405		2203	4300	6503	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.chr6:33133405C>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.4413G>A	6.37:g.33133405C>T	ENSP00000363840:p.Met1471Ile					COL11A2_uc010jul.1_Missense_Mutation_p.M127I|COL11A2_uc003ocy.1_Missense_Mutation_p.M1471I|COL11A2_uc003ocz.1_Missense_Mutation_p.M1450I	p.M1557I	NM_080680	NP_542411	P13942	COBA2_HUMAN			63	4899	-			1557			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4671G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283370	0.40394	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	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	4.4	4.4	0.53042	Fibrillar collagen, C-terminal (3);	0.097259	0.64402	D	0.000002	T	0.41534	0.1163	N	0.16862	0.45	0.54753	D	0.999986	B;B;B;B	0.27997	0.197;0.0;0.0;0.001	B;B;B;B	0.33042	0.157;0.002;0.002;0.004	T	0.39663	-0.9603	10	0.20046	T	0.44	.	14.5472	0.68041	0.0:1.0:0.0:0.0	.	153;1450;1471;1557	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	I	1471;1557;1536;1531;1510;1497;1476;1450;127	ENSP00000363840:M1471I;ENSP00000339915:M1557I;ENSP00000350079:M1536I;ENSP00000363846:M1531I;ENSP00000363845:M1510I;ENSP00000378623:M1497I;ENSP00000363844:M1476I;ENSP00000355123:M1450I	ENSP00000339915:M1557I	M	-	3	0	COL11A2	33241383	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.836000	0.69375	2.283000	0.76528	0.551000	0.68910	ATG		PASS	0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			21	125	21	125	---	---	---	---
RING1	6015	broad.mit.edu	37	6	33179274	33179274	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:33179274G>C	ENST00000374656.4	+	5	1003	c.795G>C	c.(793-795)gtG>gtC	p.V265V	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	265	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)	p.V265V(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TTGAGCTCGTGTTCCGGCCCC	0.652																																						uc003odk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(793-795)GTG>GTC		ring finger protein 1							17.0	20.0	19.0					6																	33179274		1291	2555	3846	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.chr6:33179274G>C		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.795G>C	6.37:g.33179274G>C						RING1_uc011dqx.1_Silent_p.V265V|RING1_uc003odl.2_Silent_p.V236V	p.V265V	NM_002931	NP_002922	Q06587	RING1_HUMAN			5	989	+			265			Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Silent	SNP	ENST00000374656.4	37	c.795G>C	CCDS34424.1																																																																																				PASS	0.652	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			5	30	5	30	---	---	---	---
DAXX	1616	broad.mit.edu	37	6	33289247	33289247	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:33289247G>A	ENST00000374542.5	-	3	509	c.305C>T	c.(304-306)tCg>tTg	p.S102L	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Missense_Mutation_p.S27L|DAXX_ENST00000266000.6_Missense_Mutation_p.S102L	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	102	Necessary for interaction with USP7 and ATRX.				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.S102L(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						GAACTCCGCCGAGGCCAAAAA	0.547			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2				Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		lung(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(304-306)TCG>TTG		death-domain associated protein isoform a							68.0	73.0	71.0					6																	33289247		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.chr6:33289247G>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.305C>T	6.37:g.33289247G>A	ENSP00000363668:p.Ser102Leu					DAXX_uc011drd.1_Missense_Mutation_p.S27L|DAXX_uc011dre.1_Missense_Mutation_p.S114L|DAXX_uc003oed.2_Missense_Mutation_p.S102L|DAXX_uc010juw.2_Missense_Mutation_p.S27L	p.S102L	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			3	509	-			102			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.305C>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536922	0.85812	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083;ENST00000446403;ENST00000453407	.	.	.	5.01	5.01	0.66863	Armadillo-like helical (1);	0.059976	0.64402	D	0.000002	T	0.77343	0.4116	M	0.82716	2.605	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	T	0.80654	-0.1286	9	0.87932	D	0	-0.8681	15.8482	0.78907	0.0:0.0:1.0:0.0	.	114;102;102	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	L	102;102;27;102;102	.	ENSP00000266000:S102L	S	-	2	0	DAXX	33397225	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.828000	0.86729	2.608000	0.88229	0.549000	0.68633	TCG		PASS	0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			23	156	23	156	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41774221	41774221	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:41774221C>T	ENST00000394253.3	-	3	830	c.501G>A	c.(499-501)gcG>gcA	p.A167A	USP49_ENST00000373006.1_Silent_p.A167A|USP49_ENST00000373009.3_Silent_p.A167A|USP49_ENST00000297229.2_Silent_p.A167A|USP49_ENST00000373010.1_Silent_p.A167A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	167					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A167A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTCCAGCTTCGCCTGGCCCC	0.716																																						uc003ori.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(499-501)GCG>GCA		ubiquitin thioesterase 49							9.0	11.0	10.0					6																	41774221		2117	4148	6265	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774221C>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.501G>A	6.37:g.41774221C>T							p.A167A	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	723	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		167					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.501G>A																																																																																					PASS	0.716	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		4	14	4	14	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43305564	43305564	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:43305564C>A	ENST00000361428.2	-	10	6249	c.6172G>T	c.(6172-6174)Gat>Tat	p.D2058Y	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2058					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D2058Y(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGCGGGATCGGAGGAATTA	0.468																																						uc003oux.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(6172-6174)GAT>TAT		zinc finger protein 318							90.0	82.0	84.0					6																	43305564		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.chr6:43305564C>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.6172G>T	6.37:g.43305564C>A	ENSP00000354964:p.Asp2058Tyr					ZNF318_uc003ouw.2_Intron	p.D2058Y	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6250	-			2058					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.6172G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939508	0.02322	.	.	ENSG00000171467	ENST00000361428	T	0.12255	2.7	5.0	2.54	0.30619	.	1.522320	0.03591	N	0.231765	T	0.02304	0.0071	N	0.08118	0	0.09310	N	0.999999	B	0.20459	0.045	B	0.09377	0.004	T	0.39143	-0.9628	10	0.62326	D	0.03	4.3275	5.4211	0.16400	0.1539:0.0852:0.0:0.7609	.	2058	Q5VUA4	ZN318_HUMAN	Y	2058	ENSP00000354964:D2058Y	ENSP00000354964:D2058Y	D	-	1	0	ZNF318	43413542	0.007000	0.16637	0.011000	0.14972	0.001000	0.01503	1.211000	0.32382	0.438000	0.26450	-0.238000	0.12139	GAT		PASS	0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		17	89	17	89	---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84290168	84290168	+	Splice_Site	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:84290168C>T	ENST00000439399.2	-	24	2616		c.e24+1		SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000520213.1_Splice_Site|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000519133.1_Splice_Site|SNAP91_ENST00000437520.1_Splice_Site|SNAP91_ENST00000428679.2_Splice_Site	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.?(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGATTACTCACTGCCTACTAA	0.408																																						uc011dze.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e23+1		synaptosomal-associated protein, 91kDa homolog							86.0	88.0	87.0					6																	84290168		1911	4106	6017	SO:0001630	splice_region_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84290168C>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.2299+1G>A	6.37:g.84290168C>T						SNAP91_uc011dzd.1_Splice_Site_p.N265_splice|SNAP91_uc003pkb.2_Splice_Site_p.N676_splice|SNAP91_uc003pkc.2_Splice_Site_p.N737_splice|SNAP91_uc003pkd.2_Splice_Site_p.N460_splice|SNAP91_uc003pka.2_Splice_Site_p.N765_splice	p.N767_splice	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	23	2616	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)						A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Splice_Site	SNP	ENST00000439399.2	37	c.2299_splice	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726469	0.69074	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SNAP91	84346887	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.677000	0.68142	2.589000	0.87451	0.655000	0.94253	.		PASS	0.408	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		Intron	19	84	19	84	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446736	85446736	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:85446736C>A	ENST00000369663.5	-	8	1828	c.1491G>T	c.(1489-1491)caG>caT	p.Q497H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	497					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)	p.Q497H(1)		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)		GCATGATATACTGGAGCTGGG	0.522																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1489-1491)CAG>CAT		T-box 18							166.0	172.0	170.0					6																	85446736		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446736C>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.1491G>T	6.37:g.85446736C>A	ENSP00000358677:p.Gln497His					TBX18_uc010kbq.1_Intron	p.Q497H	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1491	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	497					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1491G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469491	0.43839	.	.	ENSG00000112837	ENST00000369663	D	0.87571	-2.27	5.48	1.74	0.24563	.	2.050500	0.02017	N	0.047463	D	0.84261	0.5433	L	0.29908	0.895	0.45852	D	0.998719	D	0.76494	0.999	D	0.69142	0.962	T	0.71337	-0.4623	10	0.40728	T	0.16	.	8.7202	0.34436	0.0:0.5555:0.0:0.4445	.	497	O95935	TBX18_HUMAN	H	497	ENSP00000358677:Q497H	ENSP00000358677:Q497H	Q	-	3	2	TBX18	85503455	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.935000	0.28924	0.035000	0.15519	0.585000	0.79938	CAG		PASS	0.522	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		41	180	41	180	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90382074	90382074	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:90382074C>G	ENST00000369393.3	-	82	13754	c.13639G>C	c.(13639-13641)Gag>Cag	p.E4547Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E4547Q|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					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.E4547Q(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)		TGCAGTCTCTCAAAGCCTGCT	0.393																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(13639-13641)GAG>CAG		MDN1, midasin homolog							96.0	90.0	92.0					6																	90382074		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90382074C>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.13639G>C	6.37:g.90382074C>G	ENSP00000358400:p.Glu4547Gln						p.E4547Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	82	13755	-		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)	4547					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13639G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980059	0.34942	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.31769	1.48;1.48	6.06	5.18	0.71444	.	0.132302	0.51477	D	0.000097	T	0.11367	0.0277	L	0.59436	1.845	0.29090	N	0.882151	P	0.39665	0.682	B	0.32864	0.154	T	0.12708	-1.0537	10	0.15952	T	0.53	.	11.5542	0.50737	0.0:0.8561:0.0:0.1439	.	4547	Q9NU22	MDN1_HUMAN	Q	4547	ENSP00000358400:E4547Q;ENSP00000413970:E4547Q	ENSP00000358400:E4547Q	E	-	1	0	MDN1	90438795	0.877000	0.30153	0.996000	0.52242	0.844000	0.47949	2.218000	0.42889	1.547000	0.49401	0.655000	0.94253	GAG		PASS	0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			13	104	13	104	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90513082	90513082	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:90513082C>T	ENST00000369393.3	-	2	409	c.294G>A	c.(292-294)atG>atA	p.M98I	MDN1_ENST00000428876.1_Missense_Mutation_p.M98I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	98					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.M98I(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)		TGAGTTTGCTCATCGACACAC	0.468																																						uc003pnn.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)	10						c.(292-294)ATG>ATA		MDN1, midasin homolog							277.0	243.0	254.0					6																	90513082		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90513082C>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.294G>A	6.37:g.90513082C>T	ENSP00000358400:p.Met98Ile					MDN1_uc003pnp.1_Missense_Mutation_p.M98I	p.M98I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	2	410	-		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)	98					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.294G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797772	0.31777	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.25085	1.82;1.82;1.82	4.77	4.77	0.60923	.	0.064498	0.64402	D	0.000006	T	0.13500	0.0327	L	0.43152	1.355	0.39313	D	0.965111	B;B	0.32507	0.373;0.084	B;B	0.21546	0.035;0.032	T	0.05566	-1.0877	10	0.62326	D	0.03	.	18.1575	0.89696	0.0:1.0:0.0:0.0	.	98;98	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	I	98	ENSP00000358400:M98I;ENSP00000413970:M98I;ENSP00000409664:M98I	ENSP00000358400:M98I	M	-	3	0	MDN1	90569803	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.831000	0.55776	2.367000	0.80283	0.305000	0.20034	ATG		PASS	0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			38	266	38	266	---	---	---	---
LIN28B	389421	broad.mit.edu	37	6	105526314	105526314	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:105526314C>A	ENST00000345080.4	+	4	612	c.409C>A	c.(409-411)Cat>Aat	p.H137N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	137					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)	p.H137N(1)		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)				TGGCCTTGATCATCATGCTAA	0.403																																						uc003pqv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)CAT>AAT		lin-28 homolog B							133.0	116.0	122.0					6																	105526314		2203	4300	6503	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.chr6:105526314C>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.409C>A	6.37:g.105526314C>A	ENSP00000344401:p.His137Asn					LIN28B_uc010kda.1_3'UTR	p.H137N	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			4	612	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	137			CCHC-type 1.	Zinc 1 (By similarity).	A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.409C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209094	0.79240	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	6.02	0.97574	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.85608	0.1256	9	0.87932	D	0	-10.4949	20.5407	0.99260	0.0:1.0:0.0:0.0	.	137	Q6ZN17	LN28B_HUMAN	N	137	.	ENSP00000344401:H137N	H	+	1	0	LIN28B	105633007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.865000	0.98341	0.655000	0.94253	CAT		PASS	0.403	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		33	112	33	112	---	---	---	---
FOXO3	2309	broad.mit.edu	37	6	108985121	108985121	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:108985121G>T	ENST00000343882.6	+	3	1389	c.1085G>T	c.(1084-1086)tGc>tTc	p.C362F	FOXO3_ENST00000406360.1_Missense_Mutation_p.C362F|FOXO3_ENST00000540898.1_Missense_Mutation_p.C142F	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	362					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)	p.C362F(1)		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)		AGCAAGCCGTGCACGGTGGAA	0.552																																						uc003psk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(2)	6						c.(1084-1086)TGC>TTC		forkhead box O3A							56.0	51.0	53.0					6																	108985121		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.chr6:108985121G>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.1085G>T	6.37:g.108985121G>T	ENSP00000339527:p.Cys362Phe					FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.C362F|FOXO3_uc011ean.1_Missense_Mutation_p.C142F|FOXO3_uc010kdj.1_Missense_Mutation_p.C142F	p.C362F	NM_201559	NP_963853	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)	3	1401	+		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)	362					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1085G>T	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340101	0.41398	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.90788	-2.73;-2.73	5.71	5.71	0.89125	.	0.102589	0.64402	D	0.000003	D	0.87649	0.6230	M	0.66939	2.045	0.48087	D	0.999586	D	0.53745	0.962	P	0.46299	0.511	D	0.86034	0.1515	10	0.10111	T	0.7	-16.4393	19.8586	0.96775	0.0:0.0:1.0:0.0	.	362	O43524	FOXO3_HUMAN	F	362;362;142;142	ENSP00000339527:C362F;ENSP00000385824:C362F	ENSP00000339527:C362F	C	+	2	0	FOXO3	109091814	1.000000	0.71417	0.988000	0.46212	0.527000	0.34593	4.838000	0.62803	2.701000	0.92244	0.462000	0.41574	TGC		PASS	0.552	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			5	34	5	34	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111709286	111709286	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:111709286G>C	ENST00000358835.3	-	9	1319	c.865C>G	c.(865-867)Cac>Gac	p.H289D	REV3L_ENST00000435970.1_Missense_Mutation_p.H211D|REV3L_ENST00000368802.3_Missense_Mutation_p.H289D|REV3L_ENST00000368805.1_Missense_Mutation_p.H289D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	289					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)	p.H211D(1)|p.H289D(1)		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)		ACAAACCTGTGATCTTTGAAT	0.299								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(865-867)CAC>GAC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							46.0	49.0	48.0					6																	111709286		2202	4296	6498	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.chr6:111709286G>C	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.865C>G	6.37:g.111709286G>C	ENSP00000351697:p.His289Asp					REV3L_uc003pux.3_Missense_Mutation_p.H211D|REV3L_uc003puz.3_Missense_Mutation_p.H211D	p.H289D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	8	1188	-		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)	289					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.865C>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102877	0.37145	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.35	2.55	0.30701	Ribonuclease H-like (1);	0.395921	0.25717	N	0.028767	T	0.05547	0.0146	N	0.14661	0.345	0.25841	N	0.984057	B	0.13145	0.007	B	0.15052	0.012	T	0.41288	-0.9517	10	0.20519	T	0.43	.	9.7283	0.40346	0.2257:0.0:0.7743:0.0	.	289	O60673	DPOLZ_HUMAN	D	289;289;289;211	ENSP00000357792:H289D;ENSP00000357795:H289D;ENSP00000351697:H289D;ENSP00000402003:H211D	ENSP00000351697:H289D	H	-	1	0	REV3L	111815979	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.619000	0.54196	0.225000	0.20959	0.591000	0.81541	CAC		PASS	0.299	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		20	93	20	93	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111732738	111732738	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:111732738C>G	ENST00000358835.3	-	4	803	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	REV3L_ENST00000435970.1_Missense_Mutation_p.E39Q|REV3L_ENST00000368802.3_Missense_Mutation_p.E117Q|REV3L_ENST00000368805.1_Missense_Mutation_p.E117Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	117					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)	p.E117Q(1)|p.E39Q(1)		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)		CTTTCCTTCTCATGATAACCA	0.269								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(349-351)GAG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							34.0	33.0	33.0					6																	111732738		2173	4271	6444	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.chr6:111732738C>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.349G>C	6.37:g.111732738C>G	ENSP00000351697:p.Glu117Gln					REV3L_uc003pux.3_Missense_Mutation_p.E39Q|REV3L_uc003puz.3_Missense_Mutation_p.E39Q	p.E117Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	3	672	-		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)	117					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.349G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264755	0.80358	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.76	5.76	0.90799	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.292943	0.39909	N	0.001230	T	0.20659	0.0497	L	0.54323	1.7	0.37213	D	0.904912	D	0.76494	0.999	D	0.68483	0.958	T	0.00520	-1.1692	10	0.33940	T	0.23	-10.41	19.9813	0.97326	0.0:1.0:0.0:0.0	.	117	O60673	DPOLZ_HUMAN	Q	117;117;117;39	ENSP00000357792:E117Q;ENSP00000357795:E117Q;ENSP00000351697:E117Q;ENSP00000402003:E39Q	ENSP00000351697:E117Q	E	-	1	0	REV3L	111839431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.720000	0.68470	2.726000	0.93360	0.655000	0.94253	GAG		PASS	0.269	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		7	31	7	31	---	---	---	---
VGLL2	245806	broad.mit.edu	37	6	117589561	117589561	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:117589561G>T	ENST00000326274.5	+	2	488	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	VGLL2_ENST00000352536.3_Missense_Mutation_p.D100Y	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	100					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)	p.D100Y(1)		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)		CTCCGTGGTGGATGAACATTT	0.582																																						uc003pxn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(298-300)GAT>TAT		vestigial-like 2 isoform 1							57.0	58.0	58.0					6																	117589561		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117589561G>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.298G>T	6.37:g.117589561G>T	ENSP00000320957:p.Asp100Tyr					VGLL2_uc003pxo.2_Missense_Mutation_p.D100Y	p.D100Y	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	2	488	+			100					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.298G>T	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290645	0.80914	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.79141	-1.24	5.43	5.43	0.79202	.	0.053328	0.64402	D	0.000001	D	0.87759	0.6258	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.948;0.987	D	0.88284	0.2938	10	0.87932	D	0	-28.8789	19.4234	0.94730	0.0:0.0:1.0:0.0	.	100;100	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	Y	100	ENSP00000320957:D100Y	ENSP00000320957:D100Y	D	+	1	0	VGLL2	117696254	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	9.235000	0.95353	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		24	80	24	80	---	---	---	---
HEBP2	23593	broad.mit.edu	37	6	138727245	138727245	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:138727245G>C	ENST00000607197.1	+	3	653	c.376G>C	c.(376-378)Gat>Cat	p.D126H	HEBP2_ENST00000448741.1_Intron|HEBP2_ENST00000367697.3_Intron	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	126					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.D126H(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TTTAGAGTCAGATGTCTTCAT	0.438																																						uc003qhw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GAT>CAT		heme binding protein 2							200.0	194.0	196.0					6																	138727245		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138727245G>C	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.376G>C	6.37:g.138727245G>C	ENSP00000475750:p.Asp126His						p.D126H	NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	3	673	+	Breast(32;0.0933)		126					Q96P57	Missense_Mutation	SNP	ENST00000607197.1	37	c.376G>C	CCDS5191.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956099	0.53293	.	.	ENSG00000051620	ENST00000058691	T	0.25085	1.82	5.35	4.48	0.54585	Regulatory factor, effector, bacterial (1);	0.411472	0.30185	N	0.010206	T	0.21227	0.0511	L	0.52126	1.63	0.80722	D	1	D	0.58268	0.982	P	0.51742	0.678	T	0.00752	-1.1581	9	.	.	.	.	10.5963	0.45341	0.0908:0.0:0.9092:0.0	.	126	Q9Y5Z4	HEBP2_HUMAN	H	126	ENSP00000058691:D126H	.	D	+	1	0	HEBP2	138768938	0.998000	0.40836	0.999000	0.59377	0.987000	0.75469	2.447000	0.44917	2.509000	0.84616	0.561000	0.74099	GAT		PASS	0.438	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			57	240	57	240	---	---	---	---
T	6862	broad.mit.edu	37	6	166580150	166580150	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:166580150G>C	ENST00000296946.2	-	3	869	c.401C>G	c.(400-402)gCc>gGc	p.A134G	T_ENST00000366871.3_Missense_Mutation_p.A134G	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	134					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)	p.A134G(1)		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)		CATCCAGTGGGCCCCGAAGTT	0.657									Chordoma, Familial Clustering of																													uc003quu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(400-402)GCC>GGC		transcription factor T							55.0	61.0	59.0					6																	166580150		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.chr6:166580150G>C	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.401C>G	6.37:g.166580150G>C	ENSP00000296946:p.Ala134Gly					T_uc003qut.1_Missense_Mutation_p.A134G|T_uc003quv.1_Missense_Mutation_p.A134G	p.A134G	NM_003181	NP_003172	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	894	-		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)	134			T-box.		E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.401C>G	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431233	0.83776	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88509	-2.39;-2.39;-2.39	4.61	4.61	0.57282	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.82630	2.6	0.80722	D	1	B;B;B	0.32365	0.197;0.367;0.062	B;B;B	0.36885	0.235;0.222;0.141	D	0.89700	0.3904	10	0.56958	D	0.05	.	16.8251	0.85929	0.0:0.0:1.0:0.0	.	134;134;134	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	G	134	ENSP00000355841:A134G;ENSP00000296946:A134G;ENSP00000355836:A134G	ENSP00000296946:A134G	A	-	2	0	T	166500140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.118000	0.94355	2.276000	0.75962	0.655000	0.94253	GCC		PASS	0.657	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		15	78	15	78	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167786830	167786830	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:167786830G>T	ENST00000397829.4	-	8	975	c.808C>A	c.(808-810)Cca>Aca	p.P270T	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	297						cytosol (GO:0005829)		p.P270T(1)		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)		AGGGAAGATGGTGGGTTTACA	0.488																																						uc003qvv.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(808-810)CCA>ACA		t-complex 10							131.0	129.0	130.0					6																	167786830		1951	4139	6090	SO:0001583	missense	6953					cytosol		g.chr6:167786830G>T	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.808C>A	6.37:g.167786830G>T	ENSP00000380929:p.Pro270Thr					TCP10_uc003qvu.2_Intron	p.P270T	NM_004610	NP_004601	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)	8	1020	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	297					Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	c.808C>A	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	g	2.036	-0.421168	0.04734	.	.	ENSG00000203690	ENST00000397829	T	0.22134	1.97	1.83	-3.45	0.04781	.	.	.	.	.	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.42749	-0.9433	9	0.33141	T	0.24	.	3.855	0.08971	0.0:0.2775:0.4114:0.3111	.	297	Q12799	TCP10_HUMAN	T	270	ENSP00000380929:P270T	ENSP00000380929:P270T	P	-	1	0	TCP10	167706820	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	-0.102000	0.10956	-1.012000	0.03387	-1.404000	0.01136	CCA		PASS	0.488	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		22	149	22	149	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169622523	169622523	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:169622523G>C	ENST00000366787.3	-	20	3291	c.3042C>G	c.(3040-3042)ttC>ttG	p.F1014L	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1014	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.F1014L(2)		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)		TGTTTACGTAGAATGTGCCAC	0.522																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)	5						c.(3040-3042)TTC>TTG		thrombospondin 2 precursor							97.0	93.0	95.0					6																	169622523		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622523G>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.3042C>G	6.37:g.169622523G>C	ENSP00000355751:p.Phe1014Leu						p.F1014L	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3290	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1014			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3042C>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	9.506	1.104609	0.20632	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.91351	-2.83	4.18	-3.44	0.04796	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.42682	U	0.000677	T	0.82047	0.4952	M	0.72353	2.195	0.42202	D	0.991779	B	0.27932	0.194	B	0.28465	0.09	T	0.71199	-0.4663	10	0.87932	D	0	-27.8962	12.1093	0.53830	0.6026:0.0:0.3974:0.0	.	1014	P35442	TSP2_HUMAN	L	1014;272	ENSP00000355751:F1014L	ENSP00000355751:F1014L	F	-	3	2	THBS2	169364448	0.997000	0.39634	0.309000	0.25155	0.077000	0.17291	0.361000	0.20267	-0.747000	0.04759	0.478000	0.44815	TTC		PASS	0.522	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		11	172	11	172	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169628356	169628356	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:169628356G>C	ENST00000366787.3	-	16	2529	c.2280C>G	c.(2278-2280)ttC>ttG	p.F760L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	760					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.F760L(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCGGGGATTGAAGAGGAGCT	0.498																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2278-2280)TTC>TTG		thrombospondin 2 precursor							106.0	96.0	100.0					6																	169628356		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169628356G>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.2280C>G	6.37:g.169628356G>C	ENSP00000355751:p.Phe760Leu						p.F760L	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	16	2528	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	760			TSP type-3 2.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2280C>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928363	0.52759	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98296	-4.85	4.51	3.62	0.41486	.	0.000000	0.42964	U	0.000638	D	0.94598	0.8259	L	0.58101	1.795	0.34220	D	0.675284	B	0.32396	0.369	B	0.36030	0.216	D	0.92659	0.6140	10	0.29301	T	0.29	-48.7053	8.6275	0.33899	0.2376:0.0:0.7624:0.0	.	760	P35442	TSP2_HUMAN	L	760;18	ENSP00000355751:F760L	ENSP00000355751:F760L	F	-	3	2	THBS2	169370281	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	2.255000	0.43222	2.211000	0.71520	0.579000	0.79373	TTC		PASS	0.498	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	47	5	47	---	---	---	---
C6orf120	387263	broad.mit.edu	37	6	170103065	170103065	+	Missense_Mutation	SNP	G	G	T	rs566248910	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr6:170103065G>T	ENST00000332290.2	+	1	809	c.510G>T	c.(508-510)gaG>gaT	p.E170D	WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|C6orf120_ENST00000439249.1_Missense_Mutation_p.E189D|WDR27_ENST00000333572.6_5'Flank|WDR27_ENST00000420344.2_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	170					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)		p.E170D(1)		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)		CCTCGCAAGAGGAGGAATCTG	0.562																																						uc003qxb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)GAG>GAT		hypothetical protein LOC387263 precursor							12.0	13.0	13.0					6																	170103065		2185	4291	6476	SO:0001583	missense	387263					extracellular region		g.chr6:170103065G>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.510G>T	6.37:g.170103065G>T	ENSP00000346931:p.Glu170Asp					WDR27_uc010kkw.1_5'Flank|WDR27_uc003qwx.2_5'Flank|WDR27_uc003qwy.2_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.2_5'Flank|C6orf120_uc011egx.1_Missense_Mutation_p.E189D	p.E170D	NM_001029863	NP_001025034	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	809	+		Breast(66;0.000338)	170					B4DHE9|E1P5C9	Missense_Mutation	SNP	ENST00000332290.2	37	c.510G>T	CCDS34575.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969805	0.53614	.	.	ENSG00000185127	ENST00000439249;ENST00000332290	.	.	.	5.55	-11.1	0.00147	.	0.134749	0.48286	U	0.000188	T	0.09024	0.0223	L	0.43923	1.385	0.28903	N	0.893163	B;B	0.29115	0.233;0.096	B;B	0.31869	0.137;0.038	T	0.01232	-1.1411	9	0.33940	T	0.23	-23.8778	4.3179	0.11002	0.5315:0.1381:0.2348:0.0956	.	189;170	B4DJ79;Q7Z4R8	.;CF120_HUMAN	D	189;170	.	ENSP00000346931:E170D	E	+	3	2	C6orf120	169844990	0.005000	0.15991	0.136000	0.22124	0.210000	0.24377	-0.730000	0.04915	-2.116000	0.00830	-0.145000	0.13849	GAG		PASS	0.562	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		4	25	4	25	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	1997351	1997351	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:1997351C>A	ENST00000406869.1	-	16	2066	c.1509G>T	c.(1507-1509)ttG>ttT	p.L503F	MAD1L1_ENST00000265854.7_Missense_Mutation_p.L503F|MAD1L1_ENST00000402746.1_Missense_Mutation_p.L411F|MAD1L1_ENST00000399654.2_Missense_Mutation_p.L503F			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	503	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)		p.L503F(1)		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)		CCTCGACCTTCAACCTGCAAG	0.632																																						uc003slh.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1507-1509)TTG>TTT		MAD1-like 1 protein							46.0	53.0	51.0					7																	1997351		2122	4229	6351	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.chr7:1997351C>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.1509G>T	7.37:g.1997351C>A	ENSP00000385334:p.Leu503Phe					MAD1L1_uc003sle.1_Missense_Mutation_p.L232F|MAD1L1_uc003slf.1_Missense_Mutation_p.L503F|MAD1L1_uc003slg.1_Missense_Mutation_p.L503F|MAD1L1_uc010ksh.1_Missense_Mutation_p.L503F|MAD1L1_uc003sli.1_Missense_Mutation_p.L411F|MAD1L1_uc010ksi.1_Missense_Mutation_p.L456F|MAD1L1_uc010ksj.2_Missense_Mutation_p.L503F	p.L503F	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	16	1775	-		Ovarian(82;0.0272)	503			Necessary for interaction with NEK2.|Potential.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1509G>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	8.522	0.868878	0.17322	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	4.83	1.09	0.20402	.	0.149468	0.44902	D	0.000404	T	0.31263	0.0791	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48350	0.909;0.909;0.597	P;P;B	0.49683	0.54;0.619;0.326	T	0.05305	-1.0893	10	0.42905	T	0.14	-5.4878	10.7525	0.46217	0.0:0.73:0.0:0.27	.	502;411;503	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	F	411;503;503;54;503;54;170	ENSP00000384155:L411F;ENSP00000382562:L503F;ENSP00000385334:L503F;ENSP00000265854:L503F;ENSP00000394886:L54F;ENSP00000414877:L170F	ENSP00000265854:L503F	L	-	3	2	MAD1L1	1963877	0.922000	0.31269	0.966000	0.40874	0.056000	0.15407	0.309000	0.19332	0.336000	0.23639	-0.379000	0.06801	TTG		PASS	0.632	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		11	72	11	72	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5355647	5355647	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:5355647C>A	ENST00000430969.1	-	25	7150	c.6802G>T	c.(6802-6804)Gac>Tac	p.D2268Y	TNRC18_ENST00000399537.4_Missense_Mutation_p.D2268Y	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2268							chromatin binding (GO:0003682)	p.D2268Y(2)|p.D100Y(1)		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)		CTGCCCGTGTCTCCGTCGTCA	0.607																																						uc003soi.3																			3	Substitution - Missense(3)		lung(3)		0						c.(6802-6804)GAC>TAC		trinucleotide repeat containing 18							56.0	51.0	53.0					7																	5355647		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5355647C>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.6802G>T	7.37:g.5355647C>A	ENSP00000395538:p.Asp2268Tyr						p.D2268Y	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	25	7151	-		Ovarian(82;0.142)	2268					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.6802G>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.26|17.26	3.343593|3.343593	0.61073|0.61073	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.60299|.	0.2;0.2|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|.	.|.	.|.	.|.	T|T	0.74084|0.74084	0.3670|0.3670	M|M	0.72353|0.72353	2.195|2.195	0.49389|0.49389	D|D	0.999787|0.999787	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.75393|0.75393	-0.3333|-0.3333	9|5	0.87932|.	D|.	0|.	.|.	16.6933|16.6933	0.85327|0.85327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2268|.	O15417|.	TNC18_HUMAN|.	Y|I	2268|81	ENSP00000382452:D2268Y;ENSP00000395538:D2268Y|.	ENSP00000382452:D2268Y|.	D|R	-|-	1|2	0|0	TNRC18|TNRC18	5322173|5322173	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.288000|0.288000	0.27193|0.27193	7.420000|7.420000	0.80191|0.80191	2.010000|2.010000	0.58986|0.58986	0.511000|0.511000	0.50034|0.50034	GAC|AGA		PASS	0.607	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	68	6	68	---	---	---	---
PMS2	5395	broad.mit.edu	37	7	6045587	6045587	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:6045587C>T	ENST00000265849.7	-	2	204	c.99G>A	c.(97-99)ctG>ctA	p.L33L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Silent_p.L33L|PMS2_ENST00000441476.2_5'Flank|PMS2_ENST00000382321.4_Silent_p.L33L|Y_RNA_ENST00000365120.1_RNA	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	33					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)	p.L33L(1)		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)		TGCTTAGACTCAGTACCACCT	0.428			"""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																													uc003spl.2			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			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(97-99)CTG>CTA	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							262.0	317.0	297.0					7																	6045587		1366	2331	3697	SO:0001819	synonymous_variant	5395	Lynch_syndrome|Turcot_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.chr7:6045587C>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.99G>A	7.37:g.6045587C>T						PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.L33L|PMS2_uc010ktf.1_Silent_p.L33L	p.L33L	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	186	-		Ovarian(82;0.0694)	33					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	c.99G>A	CCDS5343.1																																																																																				PASS	0.428	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		44	393	44	393	---	---	---	---
DGKB	1607	broad.mit.edu	37	7	14758225	14758225	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:14758225C>T	ENST00000403951.2	-	6	827	c.408G>A	c.(406-408)aaG>aaA	p.K136K	DGKB_ENST00000444700.2_Silent_p.K129K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.K136K|DGKB_ENST00000258767.5_Silent_p.K136K|DGKB_ENST00000402815.1_Silent_p.K136K|DGKB_ENST00000407950.1_Silent_p.K129K|DGKB_ENST00000399322.3_Silent_p.K136K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	136					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.K136K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AGACAATGTCCTTCAGATGGA	0.438																																						uc003ssz.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(406-408)AAG>AAA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						102.0	97.0	98.0					7																	14758225		1894	4119	6013	SO:0001819	synonymous_variant	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.chr7:14758225C>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.408G>A	7.37:g.14758225C>T						DGKB_uc011jxt.1_Silent_p.K129K|DGKB_uc003sta.2_Silent_p.K136K|DGKB_uc011jxu.1_Silent_p.K136K|DGKB_uc011jxv.1_Silent_p.K136K	p.K136K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			5	595	-			136					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.408G>A	CCDS47547.1																																																																																				PASS	0.438	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		15	53	15	53	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21750313	21750313	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:21750313G>C	ENST00000409508.3	+	41	6857	c.6826G>C	c.(6826-6828)Gat>Cat	p.D2276H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2283H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2283	AAA 2. {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.D2283H(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						TGTAATGGATGATAACAAGGT	0.368									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6847-6849)GAT>CAT		dynein, axonemal, heavy chain 11							85.0	86.0	86.0					7																	21750313		2084	4247	6331	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.chr7:21750313G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6826G>C	7.37:g.21750313G>C	ENSP00000475939:p.Asp2276His						p.D2283H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			42	6878	+			2283			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6847G>C		.	.	.	.	.	.	.	.	.	.	G	25.6	4.655961	0.88056	.	.	ENSG00000105877	ENST00000328843	D	0.94966	-3.57	5.98	5.98	0.97165	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.048091	0.85682	D	0.000000	D	0.97589	0.9210	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97607	1.0127	9	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	2283	Q96DT5	DYH11_HUMAN	H	2283	ENSP00000330671:D2283H	ENSP00000330671:D2283H	D	+	1	0	DNAH11	21716838	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.797000	0.99108	2.838000	0.97847	0.591000	0.81541	GAT		PASS	0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	37	4	37	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47886498	47886498	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:47886498G>A	ENST00000289672.2	-	32	5182	c.5132C>T	c.(5131-5133)tCt>tTt	p.S1711F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1711	GPS.				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.S1711F(1)|p.S1711Y(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						TTTTTCAGGAGAAGTCCCTGG	0.433																																						uc003tny.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5131-5133)TCT>TTT		polycystin-1L1							97.0	92.0	93.0					7																	47886498		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47886498G>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.5132C>T	7.37:g.47886498G>A	ENSP00000289672:p.Ser1711Phe						p.S1711F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			32	5132	-			1711			Extracellular (Potential).|GPS.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.5132C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425007	0.25639	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	5.07	2.24	0.28232	.	0.525001	0.17793	N	0.161835	T	0.13457	0.0326	L	0.27053	0.805	0.24966	N	0.991695	B	0.16166	0.016	B	0.12837	0.008	T	0.19745	-1.0296	10	0.87932	D	0	-11.2487	6.4218	0.21748	0.3834:0.0:0.6166:0.0	.	1711	Q8TDX9	PK1L1_HUMAN	F	1711	ENSP00000289672:S1711F	ENSP00000289672:S1711F	S	-	2	0	PKD1L1	47853023	0.798000	0.28890	0.917000	0.36280	0.986000	0.74619	0.608000	0.24223	0.523000	0.28482	0.563000	0.77884	TCT		PASS	0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	136	9	136	---	---	---	---
UPP1	7378	broad.mit.edu	37	7	48139316	48139316	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:48139316G>A	ENST00000331803.4	+	5	717	c.94G>A	c.(94-96)Gat>Aat	p.D32N	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.D32N|UPP1_ENST00000395564.4_Missense_Mutation_p.D32N			Q16831	UPP1_HUMAN	uridine phosphorylase 1	32					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|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)	uridine phosphorylase activity (GO:0004850)	p.D32N(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AATGAAAGAAGATATTCTCTA	0.403																																						uc003toj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)GAT>AAT		uridine phosphorylase 1							136.0	133.0	134.0					7																	48139316		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48139316G>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.94G>A	7.37:g.48139316G>A	ENSP00000330032:p.Asp32Asn					UPP1_uc003tok.2_Missense_Mutation_p.D32N|UPP1_uc003tol.2_Missense_Mutation_p.D32N|UPP1_uc011kcg.1_Missense_Mutation_p.D32N|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	p.D32N	NM_181597	NP_853628	Q16831	UPP1_HUMAN			5	623	+			32					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.94G>A	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378585	0.95945	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.61392	0.12;0.11;0.11;0.11;0.13	5.43	5.43	0.79202	.	0.046380	0.85682	D	0.000000	T	0.79656	0.4483	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.989	T	0.82902	-0.0227	10	0.87932	D	0	-24.6744	18.2259	0.89917	0.0:0.0:1.0:0.0	.	32;32	B4DND0;Q16831	.;UPP1_HUMAN	N	32	ENSP00000405209:D32N;ENSP00000330032:D32N;ENSP00000342878:D32N;ENSP00000378931:D32N;ENSP00000390118:D32N	ENSP00000330032:D32N	D	+	1	0	UPP1	48105841	1.000000	0.71417	0.974000	0.42286	0.859000	0.49053	9.236000	0.95360	2.531000	0.85337	0.563000	0.77884	GAT		PASS	0.403	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		18	188	18	188	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77762213	77762213	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:77762213C>T	ENST00000354212.4	-	18	3449	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E1052K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E1066K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1066	Pro-rich.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.E1066K(2)		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)				TACCTATTTTCGTGTCCTTGC	0.567																																						uc003ugx.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3196-3198)GAA>AAA		membrane associated guanylate kinase, WW and PDZ							191.0	214.0	206.0					7																	77762213		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77762213C>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.3196G>A	7.37:g.77762213C>T	ENSP00000346151:p.Glu1066Lys					MAGI2_uc003ugy.2_Missense_Mutation_p.E1052K|MAGI2_uc010ldx.1_Missense_Mutation_p.E659K	p.E1066K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			18	3450	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1066			Pro-rich.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3196G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461429	0.63513	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.10192	3.0;3.0;2.9	5.41	5.41	0.78517	.	0.000000	0.33834	U	0.004504	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	P;D;D	0.65815	0.628;0.995;0.992	B;D;D	0.70716	0.039;0.97;0.935	T	0.03443	-1.1036	10	0.32370	T	0.25	.	18.7751	0.91908	0.0:1.0:0.0:0.0	.	1066;1052;1066	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	1052;1066;1066;1066	ENSP00000405766:E1052K;ENSP00000346151:E1066K;ENSP00000428389:E1066K	ENSP00000346151:E1066K	E	-	1	0	MAGI2	77600149	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	5.215000	0.65241	2.538000	0.85594	0.655000	0.94253	GAA		PASS	0.567	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		63	468	63	468	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82581599	82581599	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:82581599C>A	ENST00000333891.9	-	5	9007	c.8670G>T	c.(8668-8670)caG>caT	p.Q2890H	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.Q2890H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q2890H(2)|p.Q2821H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGTGATTCCCTGGGATACGG	0.453																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(8668-8670)CAG>CAT		piccolo isoform 1							169.0	158.0	162.0					7																	82581599		2005	4167	6172	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.chr7:82581599C>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.8670G>T	7.37:g.82581599C>A	ENSP00000334319:p.Gln2890His					PCLO_uc003uhv.2_Missense_Mutation_p.Q2890H|PCLO_uc010lec.2_5'Flank	p.Q2890H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8959	-			2821						Missense_Mutation	SNP	ENST00000333891.9	37	c.8670G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.438	0.448906	0.12223	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.36	5.15	2.26	0.28386	.	.	.	.	.	T	0.14570	0.0352	L	0.50333	1.59	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.16289	0.015;0.01	T	0.07539	-1.0767	9	0.87932	D	0	.	5.0533	0.14520	0.1384:0.5811:0.0:0.2805	.	2890;2890	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2821;2890;2890	ENSP00000334319:Q2890H;ENSP00000388393:Q2890H	ENSP00000334319:Q2890H	Q	-	3	2	PCLO	82419535	0.999000	0.42202	0.764000	0.31436	0.972000	0.66771	0.545000	0.23268	0.712000	0.32039	0.563000	0.77884	CAG		PASS	0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		68	182	68	182	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87760697	87760697	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:87760697G>C	ENST00000265727.7	+	11	1018	c.939G>C	c.(937-939)atG>atC	p.M313I	ADAM22_ENST00000439864.1_Missense_Mutation_p.M313I|ADAM22_ENST00000398204.4_Missense_Mutation_p.M313I|ADAM22_ENST00000398201.4_Missense_Mutation_p.M313I|ADAM22_ENST00000315984.7_Missense_Mutation_p.M313I|ADAM22_ENST00000398209.3_Missense_Mutation_p.M313I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	313	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)	p.M313I(3)		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)			GTGAGTTTATGAAATACAGGA	0.363																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(937-939)ATG>ATC		ADAM metallopeptidase domain 22 isoform 1							110.0	106.0	108.0					7																	87760697		1844	4096	5940	SO:0001583	missense	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.chr7:87760697G>C	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.939G>C	7.37:g.87760697G>C	ENSP00000265727:p.Met313Ile					ADAM22_uc003ujj.1_Missense_Mutation_p.M313I|ADAM22_uc003ujk.1_Missense_Mutation_p.M313I|ADAM22_uc003ujl.1_Missense_Mutation_p.M313I|ADAM22_uc003ujm.2_Missense_Mutation_p.M313I|ADAM22_uc003ujo.2_Missense_Mutation_p.M313I|ADAM22_uc003ujp.1_Missense_Mutation_p.M365I	p.M313I	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		11	1018	+	Esophageal squamous(14;0.00202)		313			Peptidase M12B.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.939G>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726492	0.89298	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.48	5.48	0.80851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.67145	0.99;0.987;0.99;0.992;0.996	D;D;D;D;D	0.85130	0.965;0.922;0.953;0.993;0.997	T	0.05178	-1.0901	10	0.28530	T	0.3	.	19.7142	0.96108	0.0:0.0:1.0:0.0	.	365;313;313;313;313	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1	.;.;ADA22_HUMAN;.;.	I	313;313;313;313;313;313;280	ENSP00000381262:M313I;ENSP00000391334:M313I;ENSP00000381260:M313I;ENSP00000265727:M313I;ENSP00000315900:M313I;ENSP00000381267:M313I;ENSP00000381261:M280I	ENSP00000265727:M313I	M	+	3	0	ADAM22	87598633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.738000	0.93877	0.591000	0.81541	ATG		PASS	0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		12	131	12	131	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91830051	91830051	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:91830051C>T	ENST00000340022.2	-	19	3228	c.2210G>A	c.(2209-2211)tGa>tAa	p.*737*	KRIT1_ENST00000394503.2_Silent_p.*689*|KRIT1_ENST00000394505.2_Silent_p.*737*|KRIT1_ENST00000412043.2_Silent_p.*737*|KRIT1_ENST00000394507.1_Silent_p.*737*|Y_RNA_ENST00000363899.1_RNA|AC000120.7_ENST00000414227.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	0					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.*737*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTTCTCTTTCATGAATTTCT	0.343																																						uc003ulq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(2209-2211)TGA>TAA		krev interaction trapped 1 isoform 1							79.0	75.0	76.0					7																	91830051		2202	4300	6502	SO:0001819	synonymous_variant	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91830051C>T	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.2210G>A	7.37:g.91830051C>T						KRIT1_uc010lev.1_Silent_p.*494*|KRIT1_uc003ulr.1_Silent_p.*737*|KRIT1_uc003uls.1_Silent_p.*737*|KRIT1_uc003ult.1_Silent_p.*689*|KRIT1_uc003ulu.1_Silent_p.*737*|KRIT1_uc003ulv.1_Silent_p.*737*	p.*737*	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	2381	-	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)		737					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.2210G>A	CCDS5624.1																																																																																				PASS	0.343	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			6	50	6	50	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146731	92146731	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:92146731A>C	ENST00000248633.4	-	5	1193	c.1098T>G	c.(1096-1098)gaT>gaG	p.D366E	PEX1_ENST00000428214.1_Missense_Mutation_p.D366E|PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	366					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)	p.D366E(1)		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)			TTTTTTTTTGATCTAGTGGCT	0.363																																						uc003uly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1096-1098)GAT>GAG		peroxin1							125.0	126.0	126.0					7																	92146731		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.chr7:92146731A>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.1098T>G	7.37:g.92146731A>C	ENSP00000248633:p.Asp366Glu					PEX1_uc011khr.1_Missense_Mutation_p.D158E|PEX1_uc010ley.2_Missense_Mutation_p.D366E|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.D366E	NM_000466	NP_000457	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)		5	1194	-	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)	366					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1098T>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	9.990	1.230598	0.22542	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94330	-3.34;-3.4	5.94	2.4	0.29515	.	0.355854	0.33346	N	0.005010	D	0.84160	0.5411	L	0.32530	0.975	0.80722	D	1	P;B	0.35433	0.501;0.293	B;B	0.25140	0.058;0.039	T	0.78196	-0.2298	10	0.15952	T	0.53	-13.3058	7.8119	0.29237	0.6692:0.0:0.3308:0.0	.	158;366	B4DER6;O43933	.;PEX1_HUMAN	E	366	ENSP00000248633:D366E;ENSP00000394413:D366E	ENSP00000248633:D366E	D	-	3	2	PEX1	91984667	1.000000	0.71417	0.948000	0.38648	0.540000	0.34992	1.479000	0.35453	1.075000	0.40932	0.459000	0.35465	GAT		PASS	0.363	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		27	230	27	230	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98951667	98951667	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:98951667C>A	ENST00000262942.5	+	6	760	c.636C>A	c.(634-636)ttC>ttA	p.F212L	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Missense_Mutation_p.F165L	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	212					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)	p.F212L(2)		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)			GGGTAAGCTTCTCTGCCAGTG	0.592																																						uc003upx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(634-636)TTC>TTA		actin related protein 2/3 complex subunit 1A							61.0	64.0	63.0					7																	98951667		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98951667C>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.636C>A	7.37:g.98951667C>A	ENSP00000262942:p.Phe212Leu					ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.F198L|ARPC1A_uc011kit.1_RNA	p.F212L	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	783	+	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)		212			WD 4.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.636C>A	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.440796	0.83993	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.69685	-0.42;-0.42	5.05	3.25	0.37280	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.91090	3.175	0.80722	D	1	D;B	0.54207	0.965;0.329	P;B	0.52823	0.71;0.061	T	0.81739	-0.0795	10	0.87932	D	0	.	10.6637	0.45717	0.0:0.7834:0.0:0.2166	.	207;212	Q53GB6;Q92747	.;ARC1A_HUMAN	L	165;212	ENSP00000408578:F165L;ENSP00000262942:F212L	ENSP00000262942:F212L	F	+	3	2	ARPC1A	98789603	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.699000	0.25586	0.659000	0.30945	0.555000	0.69702	TTC		PASS	0.592	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		9	86	9	86	---	---	---	---
CPSF4	10898	broad.mit.edu	37	7	99042437	99042437	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:99042437C>G	ENST00000292476.5	+	2	139	c.129C>G	c.(127-129)ttC>ttG	p.F43L	CPSF4_ENST00000441580.1_5'UTR|CPSF4_ENST00000471455.1_3'UTR|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000451876.1_Missense_Mutation_p.F43L|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.F43L|ATP5J2-PTCD1_ENST00000437572.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	43					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)	p.F43L(1)		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)					TCTGTGAATTCTTTTTGAAAG	0.542																																						uc003uqj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(127-129)TTC>TTG		cleavage and polyadenylation specific factor 4,							159.0	177.0	171.0					7																	99042437		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.chr7:99042437C>G		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.129C>G	7.37:g.99042437C>G	ENSP00000292476:p.Phe43Leu					PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.F43L|CPSF4_uc003uqk.2_Missense_Mutation_p.F43L|CPSF4_uc011kix.1_5'UTR	p.F43L	NM_006693	NP_006684	O95639	CPSF4_HUMAN			2	272	+	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)		43			C3H1-type 1.		D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.129C>G	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496762	0.64186	.	.	ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000452047	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.55	4.44	0.53790	Zinc finger, CCCH-type (2);	0.042765	0.85682	D	0.000000	T	0.39489	0.1080	L	0.56124	1.755	0.80722	D	1	B;B;B	0.15719	0.007;0.014;0.009	B;B;B	0.26202	0.046;0.027;0.067	T	0.43572	-0.9383	10	0.44086	T	0.13	-16.6363	4.1166	0.10084	0.0:0.6824:0.0:0.3176	.	43;43;43	O95639-3;O95639;O95639-2	.;CPSF4_HUMAN;.	L	43;43;43;10	ENSP00000395311:F43L;ENSP00000396060:F43L;ENSP00000292476:F43L;ENSP00000392584:F10L	ENSP00000292476:F43L	F	+	3	2	CPSF4	98880373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.141000	0.42168	2.762000	0.94881	0.650000	0.86243	TTC		PASS	0.542	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			53	328	53	328	---	---	---	---
LRCH4	4034	broad.mit.edu	37	7	100174907	100174907	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:100174907C>T	ENST00000310300.6	-	11	1336	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	428					nervous system development (GO:0007399)	PML body (GO:0016605)		p.P428P(1)		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)					TATCCTTCCTCGGGGCCCCCC	0.736																																						uc003uvj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1282-1284)CCG>CCA		leucine-rich repeats and calponin homology (CH)							8.0	12.0	11.0					7																	100174907		2146	4211	6357	SO:0001819	synonymous_variant	4034				nervous system development	PML body	protein binding	g.chr7:100174907C>T	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.1284G>A	7.37:g.100174907C>T						LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	p.P428P	NM_002319	NP_002310	O75427	LRCH4_HUMAN			11	1337	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		428					A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	c.1284G>A	CCDS34706.1																																																																																				PASS	0.736	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		7	14	7	14	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100366312	100366312	+	RNA	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:100366312C>A	ENST00000348028.3	+	0	5286				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_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.A1707A(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCTGGGGGCCGCCTGGAAGT	0.612																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5119-5121)GCC>GCA		zonadhesin isoform 3							21.0	21.0	21.0					7																	100366312		1859	4086	5945			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100366312C>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.100366312C>A						ZAN_uc003uwk.2_Silent_p.A1707A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.A284A	p.A1707A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		27	5286	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1707			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.5121C>A																																																																																					PASS	0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	22	5	22	---	---	---	---
SLC26A5	375611	broad.mit.edu	37	7	103051974	103051974	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:103051974C>T	ENST00000306312.3	-	6	724	c.463G>A	c.(463-465)Gat>Aat	p.D155N	SLC26A5_ENST00000432958.2_Missense_Mutation_p.D155N|SLC26A5_ENST00000339444.6_Missense_Mutation_p.D155N|SLC26A5_ENST00000393735.2_Missense_Mutation_p.D155N|SLC26A5_ENST00000356767.4_Missense_Mutation_p.D155N|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D155N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D155N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D118N|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D155N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	155					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.D155N(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGACTATATCATCTGGTACT	0.443																																						uc003vbz.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(463-465)GAT>AAT		prestin isoform a							199.0	164.0	176.0					7																	103051974		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.chr7:103051974C>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.463G>A	7.37:g.103051974C>T	ENSP00000304783:p.Asp155Asn					SLC26A5_uc003vbt.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbu.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbv.1_Missense_Mutation_p.D155N|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.D155N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.D155N	NM_198999	NP_945350	P58743	S26A5_HUMAN			6	699	-			155			Extracellular (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.463G>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359965	0.82353	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93712	-3.21;-2.65;-3.27;-3.25;-3.2;-3.2;-3.13;-3.26;-3.19	5.49	5.49	0.81192	.	0.310318	0.36778	N	0.002410	D	0.94125	0.8116	M	0.61703	1.905	0.80722	D	1	P;P;P;P;P	0.49090	0.645;0.788;0.868;0.919;0.919	B;B;P;B;P	0.48270	0.368;0.304;0.572;0.423;0.501	D	0.94194	0.7444	10	0.59425	D	0.04	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	155;155;155;155;155	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	N	155;155;155;155;155;155;118;155;155	ENSP00000342396:D155N;ENSP00000349210:D155N;ENSP00000377336:D155N;ENSP00000304783:D155N;ENSP00000377331:D155N;ENSP00000389733:D155N;ENSP00000377330:D118N;ENSP00000377328:D155N;ENSP00000377324:D155N	ENSP00000304783:D155N	D	-	1	0	SLC26A5	102839210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.733000	0.38156	2.746000	0.94184	0.655000	0.94253	GAT		PASS	0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		37	96	37	96	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103143678	103143678	+	Splice_Site	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:103143678C>G	ENST00000428762.1	-	52	8434		c.e52-1		CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_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)	p.?(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAACTGAGATCTAATAAACAG	0.368																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Unknown(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.e52-1		reelin isoform a							59.0	61.0	60.0					7																	103143678		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.chr7:103143678C>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.8275-1G>C	7.37:g.103143678C>G						RELN_uc010liz.2_Splice_Site_p.I2759_splice	p.I2759_splice	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	52	8435	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	c.8275_splice	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360942	0.82353	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	102930914	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.244000	0.78228	2.433000	0.82419	0.655000	0.94253	.		PASS	0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	8	100	8	100	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103202380	103202380	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:103202380C>G	ENST00000428762.1	-	35	5390	c.5231G>C	c.(5230-5232)aGa>aCa	p.R1744T	RELN_ENST00000343529.5_Missense_Mutation_p.R1744T|RELN_ENST00000424685.2_Missense_Mutation_p.R1744T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1744					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R1744T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATCCATCTGAACCGGGT	0.453																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5230-5232)AGA>ACA		reelin isoform a							61.0	50.0	54.0					7																	103202380		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.chr7:103202380C>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.5231G>C	7.37:g.103202380C>G	ENSP00000392423:p.Arg1744Thr					RELN_uc010liz.2_Missense_Mutation_p.R1744T	p.R1744T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5391	-			1744					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5231G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859008	0.91433	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21734	1.99;1.99;1.99	5.78	5.78	0.91487	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.85777	2.775	0.53688	D	0.999975	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.961	T	0.59107	-0.7516	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	1744;1744	P78509-2;P78509	.;RELN_HUMAN	T	1744	ENSP00000392423:R1744T;ENSP00000345694:R1744T;ENSP00000388446:R1744T	ENSP00000345694:R1744T	R	-	2	0	RELN	102989616	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.280000	0.78610	2.744000	0.94065	0.563000	0.77884	AGA		PASS	0.453	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	46	5	46	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103214687	103214687	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:103214687C>G	ENST00000428762.1	-	30	4522	c.4363G>C	c.(4363-4365)Gag>Cag	p.E1455Q	RELN_ENST00000343529.5_Missense_Mutation_p.E1455Q|RELN_ENST00000424685.2_Missense_Mutation_p.E1455Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1455					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.E1455Q(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTTCCCCTCAAACCTATCG	0.468																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4363-4365)GAG>CAG		reelin isoform a							125.0	102.0	110.0					7																	103214687		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.chr7:103214687C>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.4363G>C	7.37:g.103214687C>G	ENSP00000392423:p.Glu1455Gln					RELN_uc010liz.2_Missense_Mutation_p.E1455Q	p.E1455Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4523	-			1455					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4363G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053829	0.93793	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.51	5.51	0.81932	.	0.186458	0.49305	D	0.000145	T	0.31420	0.0796	M	0.70595	2.14	0.54753	D	0.999984	P;P	0.45428	0.565;0.858	B;B	0.36959	0.237;0.215	T	0.17992	-1.0351	10	0.42905	T	0.14	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1455;1455	P78509-2;P78509	.;RELN_HUMAN	Q	1455	ENSP00000392423:E1455Q;ENSP00000345694:E1455Q;ENSP00000388446:E1455Q	ENSP00000345694:E1455Q	E	-	1	0	RELN	103001923	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.750000	0.94351	0.655000	0.94253	GAG		PASS	0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		25	135	25	135	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103234130	103234130	+	Splice_Site	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:103234130T>G	ENST00000428762.1	-	27	4070	c.3911A>C	c.(3910-3912)aAg>aCg	p.K1304T	RELN_ENST00000343529.5_Splice_Site_p.K1304T|RELN_ENST00000424685.2_Splice_Site_p.K1304T	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1304					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.K1304T(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATAAATACCTTGAACTGTAG	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(3910-3912)AAG>ACG		reelin isoform a							131.0	125.0	127.0					7																	103234130		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.chr7:103234130T>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.3912+1A>C	7.37:g.103234130T>G						RELN_uc010liz.2_Missense_Mutation_p.K1304T	p.K1304T	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	27	4071	-			1304					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3911A>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000050	0.74818	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25749	1.78;1.78;1.78	5.96	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.49350	1.555	0.50632	D	0.999881	P;D	0.59357	0.726;0.985	P;D	0.71656	0.636;0.974	T	0.29731	-1.0002	10	0.56958	D	0.05	.	13.3987	0.60870	0.0:0.0:0.1314:0.8686	.	1304;1304	P78509-2;P78509	.;RELN_HUMAN	T	1304	ENSP00000392423:K1304T;ENSP00000345694:K1304T;ENSP00000388446:K1304T	ENSP00000345694:K1304T	K	-	2	0	RELN	103021366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.474000	0.81024	1.061000	0.40601	0.533000	0.62120	AAG		PASS	0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Missense_Mutation	43	114	43	114	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104752848	104752848	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:104752848C>T	ENST00000311117.3	+	27	5190	c.4645C>T	c.(4645-4647)Cct>Tct	p.P1549S	KMT2E_ENST00000257745.4_Missense_Mutation_p.P1549S|KMT2E_ENST00000334914.7_Intron|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1507S	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1549	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)	p.P1549S(1)									CCCTCCACCTCCTCCACCTCC	0.443																																						uc003vcm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4645-4647)CCT>TCT		myeloid/lymphoid or mixed-lineage leukemia 5							147.0	163.0	158.0					7																	104752848		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752848C>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.4645C>T	7.37:g.104752848C>T	ENSP00000312379:p.Pro1549Ser					MLL5_uc010ljc.2_Missense_Mutation_p.P1549S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P283S	p.P1549S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5179	+			1549			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4645C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	7.411	0.634777	0.14322	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95788	-3.58;-3.81;-3.58	3.45	3.45	0.39498	.	0.000000	0.39544	N	0.001325	D	0.94955	0.8368	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.979;0.993	P;D	0.70227	0.662;0.968	D	0.94099	0.7360	10	0.33141	T	0.24	.	15.2845	0.73816	0.0:1.0:0.0:0.0	.	1469;1549	F8W6H1;Q8IZD2	.;MLL5_HUMAN	S	1549;1507;1469;1549	ENSP00000312379:P1549S;ENSP00000335599:P1507S;ENSP00000257745:P1549S	ENSP00000257745:P1549S	P	+	1	0	MLL5	104540084	0.982000	0.34865	0.876000	0.34364	0.813000	0.45954	4.098000	0.57748	1.638000	0.50547	0.305000	0.20034	CCT		PASS	0.443	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	126	8	126	---	---	---	---
MET	4233	broad.mit.edu	37	7	116381073	116381073	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:116381073C>G	ENST00000318493.6	+	5	1882	c.1695C>G	c.(1693-1695)atC>atG	p.I565M	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.I565M|MET_ENST00000397752.3_Missense_Mutation_p.I565M			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.I565M(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)			TGCCTGCAATCTACAAGGTAG	0.428			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2				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 		1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1693-1695)ATC>ATG		met proto-oncogene isoform b precursor							89.0	89.0	89.0					7																	116381073		1932	4128	6060	SO:0001583	missense	4233	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.chr7:116381073C>G	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.1695C>G	7.37:g.116381073C>G	ENSP00000317272:p.Ile565Met					MET_uc010lkh.2_Missense_Mutation_p.I565M|MET_uc011knc.1_Missense_Mutation_p.I565M|MET_uc011knd.1_Missense_Mutation_p.I565M|MET_uc011kne.1_Missense_Mutation_p.I537M|MET_uc011knf.1_Missense_Mutation_p.I565M|MET_uc011kng.1_Missense_Mutation_p.I565M|MET_uc011knh.1_Missense_Mutation_p.I565M|MET_uc011kni.1_Missense_Mutation_p.I565M|MET_uc011knj.1_Missense_Mutation_p.I135M|MET_uc011knb.1_Missense_Mutation_p.I565M	p.I565M	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		5	1882	+	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)	565			Extracellular (Potential).|IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1695C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061384	0.36373	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.71341	-0.56;-0.56;-0.56	5.85	3.84	0.44239	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.276251	0.41001	D	0.000980	T	0.80757	0.4684	M	0.86097	2.795	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.50528	0.901;0.925;0.934;0.875;0.933;0.936;0.865;0.889;0.909	P;D;P;P;D;P;P;P;P	0.65773	0.725;0.938;0.903;0.89;0.92;0.89;0.826;0.831;0.73	T	0.78843	-0.2044	10	0.87932	D	0	.	2.4634	0.04547	0.2283:0.2508:0.0:0.5209	.	565;565;565;565;537;565;565;565;565	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;P08581-2;P08581	.;.;.;.;.;.;.;.;MET_HUMAN	M	565	ENSP00000380860:I565M;ENSP00000317272:I565M;ENSP00000410980:I565M	ENSP00000317272:I565M	I	+	3	3	MET	116168309	1.000000	0.71417	0.155000	0.22561	0.103000	0.19146	0.571000	0.23669	0.696000	0.31696	0.557000	0.71058	ATC		PASS	0.428	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			16	170	16	170	---	---	---	---
POT1	25913	broad.mit.edu	37	7	124499073	124499073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:124499073G>A	ENST00000357628.3	-	9	1238	c.640C>T	c.(640-642)Caa>Taa	p.Q214*	POT1_ENST00000393329.1_Nonsense_Mutation_p.Q83*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	214					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)	p.Q214*(2)		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						GTCAGATTTTGTAGCCGATGG	0.378																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(640-642)CAA>TAA		protection of telomeres 1 isoform 1							97.0	90.0	92.0					7																	124499073		2203	4300	6503	SO:0001587	stop_gained	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.chr7:124499073G>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.640C>T	7.37:g.124499073G>A	ENSP00000350249:p.Gln214*					POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Nonsense_Mutation_p.Q83*|POT1_uc003vln.2_RNA	p.Q214*	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			9	1241	-			214					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Nonsense_Mutation	SNP	ENST00000357628.3	37	c.640C>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	G	43	10.013756	0.99318	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	.	.	.	5.98	5.05	0.67936	.	0.219978	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-7.754	14.6327	0.68668	0.0:0.0:0.7644:0.2356	.	.	.	.	X	214;83;214;214;214;213	.	ENSP00000265391:Q213X	Q	-	1	0	POT1	124286309	0.975000	0.34042	0.995000	0.50966	0.986000	0.74619	1.394000	0.34509	2.838000	0.97847	0.591000	0.81541	CAA		PASS	0.378	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			23	73	23	73	---	---	---	---
MIR129-1	406917	broad.mit.edu	37	7	127847965	127847965	+	RNA	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:127847965T>C	ENST00000384972.1	+	0	42					NR_029596.1				microRNA 129-1																		CTCTCAACAGTAGTCAGGAAG	0.597																																						hsa-mir-129-1|MI0000252																			0					0															36.0	35.0	36.0					7																	127847965		1568	3582	5150			406917							g.chr7:127847965T>C			7q32.1	2011-09-12		2008-12-18	ENSG00000207705	ENSG00000207705		"""ncRNAs / Micro RNAs"""	31512	non-coding RNA	RNA, micro				MIRN129-1			Standard	NR_029596		Approved	hsa-mir-129-1	uc011koi.2				7.37:g.127847965T>C						uc011koi.1_RNA										+									RNA	SNP	ENST00000384972.1	37	c.41T>C																																																																																					PASS	0.597	MIR129-1-201	KNOWN	basic	miRNA	miRNA		NR_029596		10	18	10	18	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128489458	128489458	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:128489458G>T	ENST00000325888.8	+	30	5286	c.5025G>T	c.(5023-5025)gaG>gaT	p.E1675D	FLNC_ENST00000346177.6_Missense_Mutation_p.E1675D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1675					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)	p.E1675D(1)		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						CAGCCGGTGAGGGGAAGGTGA	0.612																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5023-5025)GAG>GAT		gamma filamin isoform a							83.0	96.0	92.0					7																	128489458		2187	4271	6458	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489458G>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.5025G>T	7.37:g.128489458G>T	ENSP00000327145:p.Glu1675Asp					FLNC_uc003voa.3_Missense_Mutation_p.E1675D	p.E1675D	NM_001458	NP_001449	Q14315	FLNC_HUMAN			30	5234	+			1675			Filamin 15.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.5025G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770916	0.49680	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84800	-1.9;-1.9	5.2	2.4	0.29515	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.052266	0.64402	D	0.000001	T	0.70988	0.3287	N	0.17379	0.485	0.26498	N	0.974815	B;B	0.18741	0.03;0.022	B;B	0.23574	0.047;0.034	T	0.62201	-0.6904	10	0.62326	D	0.03	.	5.014	0.14326	0.224:0.0:0.6269:0.1491	.	1675;1675	Q14315-2;Q14315	.;FLNC_HUMAN	D	1675	ENSP00000327145:E1675D;ENSP00000344002:E1675D	ENSP00000327145:E1675D	E	+	3	2	FLNC	128276694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.841000	0.27613	0.585000	0.29608	0.655000	0.94253	GAG		PASS	0.612	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			31	66	31	66	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128622324	128622324	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:128622324C>G	ENST00000265388.5	-	14	1980	c.1837G>C	c.(1837-1839)Gat>Cat	p.D613H	TNPO3_ENST00000393245.1_Missense_Mutation_p.D647H|TNPO3_ENST00000471234.1_Missense_Mutation_p.D549H|TNPO3_ENST00000471166.1_Missense_Mutation_p.D647H|TNPO3_ENST00000482320.1_Missense_Mutation_p.D547H			Q9Y5L0	TNPO3_HUMAN	transportin 3	613					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)	p.D647H(1)|p.D613H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCAAGGCGATCTAAGAACACT	0.408																																					Pancreas(147;583 2585 39696 52331)	uc003vol.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|lung(1)	5						c.(1837-1839)GAT>CAT		transportin 3							135.0	115.0	122.0					7																	128622324		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128622324C>G	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.1837G>C	7.37:g.128622324C>G	ENSP00000265388:p.Asp613His					TNPO3_uc010llx.1_Missense_Mutation_p.D24H|TNPO3_uc003vom.1_Missense_Mutation_p.D547H|TNPO3_uc010lly.1_Missense_Mutation_p.D647H|TNPO3_uc010llz.1_Missense_Mutation_p.D549H	p.D613H	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN			14	2211	-			613					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.1837G>C	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290659	0.80914	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.68903	-0.22;-0.22;-0.22;-0.36;-0.22	5.8	4.93	0.64822	Armadillo-type fold (1);	0.094954	0.64402	D	0.000001	T	0.78698	0.4324	M	0.72118	2.19	0.58432	D	0.999991	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.76575	0.909;0.974;0.988;0.974	T	0.79264	-0.1875	10	0.51188	T	0.08	.	10.6929	0.45882	0.0:0.9129:0.0:0.0871	.	549;647;613;613	C9IZM0;C9J7E5;Q9Y5L0-3;Q9Y5L0	.;.;.;TNPO3_HUMAN	H	647;613;547;549;647	ENSP00000376936:D647H;ENSP00000265388:D613H;ENSP00000420089:D547H;ENSP00000418646:D549H;ENSP00000418267:D647H	ENSP00000265388:D613H	D	-	1	0	TNPO3	128409560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.764000	0.74960	1.470000	0.48102	0.650000	0.86243	GAT		PASS	0.408	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		8	69	8	69	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131864622	131864622	+	Missense_Mutation	SNP	G	G	T	rs376544741		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:131864622G>T	ENST00000359827.3	-	20	4660	c.3698C>A	c.(3697-3699)cCg>cAg	p.P1233Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1233Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1233					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)	p.P1233Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGGCTGAGCGGGCTGTCCGG	0.647																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3697-3699)CCG>CAG		plexin A4 isoform 1							19.0	23.0	21.0					7																	131864622		2172	4255	6427	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131864622G>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.3698C>A	7.37:g.131864622G>T	ENSP00000352882:p.Pro1233Gln						p.P1233Q	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	3927	-			1233			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3698C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071989	0.76415	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00958	5.5;5.5	4.92	4.92	0.64577	.	0.051379	0.85682	D	0.000000	T	0.01287	0.0042	L	0.41492	1.28	0.80722	D	1	P	0.46064	0.872	B	0.41036	0.346	T	0.77373	-0.2612	10	0.12103	T	0.63	.	18.3041	0.90175	0.0:0.0:1.0:0.0	.	1233	Q9HCM2	PLXA4_HUMAN	Q	1233	ENSP00000323194:P1233Q;ENSP00000352882:P1233Q	ENSP00000323194:P1233Q	P	-	2	0	PLXNA4	131515162	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	4.672000	0.61597	2.582000	0.87167	0.484000	0.47621	CCG		PASS	0.647	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	25	4	25	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133821796	133821796	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:133821796G>C	ENST00000285928.2	+	2	387	c.318G>C	c.(316-318)ctG>ctC	p.L106L	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	106						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L106L(1)		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						ATGGGGTCCTGAGAGAGGAGG	0.438																																						uc003vrm.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(316-318)CTG>CTC		leucine-rich repeats and guanylate kinase domain							55.0	55.0	55.0					7																	133821796		2203	4300	6503	SO:0001819	synonymous_variant	136332						ATP binding|kinase activity	g.chr7:133821796G>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.318G>C	7.37:g.133821796G>C							p.L106L	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			2	334	+			106					Q2M3I1	Silent	SNP	ENST00000285928.2	37	c.318G>C	CCDS5830.1																																																																																				PASS	0.438	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		7	30	7	30	---	---	---	---
SVOPL	136306	broad.mit.edu	37	7	138329559	138329559	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:138329559G>A	ENST00000419765.3	-	8	725	c.692C>T	c.(691-693)tCc>tTc	p.S231F	SVOPL_ENST00000436657.1_Missense_Mutation_p.S79F|SVOPL_ENST00000421622.1_Missense_Mutation_p.S111F|SVOPL_ENST00000288513.5_Missense_Mutation_p.S79F	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	231						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S231F(1)|p.S79F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GTTCCCAGTGGAGACATTGAA	0.562																																						uc011kqh.1																			2	Substitution - Missense(2)		lung(2)		0						c.(691-693)TCC>TTC		SVOP-like isoform 1							71.0	73.0	72.0					7																	138329559		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138329559G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.692C>T	7.37:g.138329559G>A	ENSP00000405482:p.Ser231Phe					SVOPL_uc003vue.2_Missense_Mutation_p.S79F	p.S231F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			8	692	-			231						Missense_Mutation	SNP	ENST00000419765.3	37	c.692C>T	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794749	0.31777	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.75154	-0.91;-0.91;-0.91;0.2	5.06	5.06	0.68205	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.84082	2.675	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.83875	0.0276	10	0.16896	T	0.51	-30.0065	18.0525	0.89354	0.0:0.0:1.0:0.0	.	231;79	Q8N434;Q8N434-2	SVOPL_HUMAN;.	F	79;111;79;231	ENSP00000288513:S79F;ENSP00000412830:S111F;ENSP00000417018:S79F;ENSP00000405482:S231F	ENSP00000288513:S79F	S	-	2	0	SVOPL	137980099	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	8.558000	0.90704	2.343000	0.79666	0.650000	0.86243	TCC		PASS	0.562	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		10	149	10	149	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140481417	140481417	+	Missense_Mutation	SNP	C	C	A	rs121913348		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:140481417C>A	ENST00000288602.6	-	11	1451	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in CRC). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537}.|G -> V (in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308}.		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.G464E(6)|p.G464V(6)	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)	TGATCCAGATCCAATTCTTTG	0.388		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)	uc003vwc.3		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	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	12	Substitution - Missense(12)	p.G464E(7)|p.G464V(7)|p.G464R(1)	large_intestine(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|adrenal_gland(1)|biliary_tract(1)|lung(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	GRCh37	CM086781	BRAF	M	rs121913348	c.(1390-1392)GGA>GTA		B-Raf	Sorafenib(DB00398)						171.0	146.0	155.0					7																	140481417		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.chr7:140481417C>A	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.1391G>T	7.37:g.140481417C>A	ENSP00000288602:p.Gly464Val						p.G464V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1452	-	Melanoma(164;0.00956)		464		G -> E (in colorectal cancer).|G -> V (in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1391G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835478|4.835478	0.91117|0.91117	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.91011	.|-2.77	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);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97232|0.97232	0.9095|0.9095	H|H	0.97659|0.97659	4.05|4.05	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.77004	.|0.989	D|D	0.98427|0.98427	1.0580|1.0580	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	.|.	.|464	.|P15056	.|BRAF_HUMAN	Y|V	72|464	.|ENSP00000288602:G464V	.|ENSP00000288602:G464V	D|G	-|-	1|2	0|0	BRAF|BRAF	140127886|140127886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAT|GGA		PASS	0.388	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		13	193	13	193	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619217	141619217	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:141619217G>A	ENST00000548136.1	+	1	601	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R181L(1)|p.R181Q(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTTTGTGACCGAGGGCAATTG	0.383																																						uc003vwu.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(541-543)CGA>CAA		olfactory receptor, family 9, subfamily A,							158.0	158.0	158.0					7																	141619217		2070	4246	6316	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619217G>A		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.542G>A	7.37:g.141619217G>A	ENSP00000448789:p.Arg181Gln						p.R181Q	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	542	+	Melanoma(164;0.0171)		181			Extracellular (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.542G>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.444725	0.25987	.	.	ENSG00000258083	ENST00000548136	T	0.37058	1.22	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36138	0.0956	M	0.75447	2.3	0.26636	N	0.972379	B	0.28801	0.223	B	0.24701	0.055	T	0.18335	-1.0340	9	0.30854	T	0.27	-4.9263	8.9047	0.35517	0.0:0.0:0.7774:0.2226	.	181	Q8NGU2	OR9A4_HUMAN	Q	181	ENSP00000448789:R181Q	ENSP00000386148:R181Q	R	+	2	0	OR9A4	141265686	0.000000	0.05858	1.000000	0.80357	0.555000	0.35460	0.296000	0.19083	2.121000	0.65114	0.655000	0.94253	CGA		PASS	0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		29	274	29	274	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142459707	142459707	+	Missense_Mutation	SNP	C	C	T	rs201775810		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:142459707C>T	ENST00000311737.7	+	3	289	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	PRSS1_ENST00000486171.1_Missense_Mutation_p.R109C	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	95	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)	p.R95C(1)		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)	CAAGATCATCCGCCACCCCCA	0.542																																						uc003wak.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(283-285)CGC>TGC		protease, serine, 1 preproprotein							234.0	217.0	223.0					7																	142459707		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459707C>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.283C>T	7.37:g.142459707C>T	ENSP00000308720:p.Arg95Cys					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.R35C	p.R95C	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	300	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	95			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.283C>T	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	4.043	0.005513	0.07866	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.93133	-3.17;-3.17;-1.55	3.28	1.27	0.21489	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.218378	0.44902	D	0.000419	D	0.86117	0.5856	N	0.20445	0.575	0.51233	D	0.999914	B;B	0.24092	0.097;0.04	B;B	0.23852	0.049;0.03	T	0.78319	-0.2250	10	0.59425	D	0.04	.	10.2998	0.43646	0.5203:0.4797:0.0:0.0	.	109;95	E7EQ64;P07477	.;TRY1_HUMAN	C	109;95;85;45	ENSP00000417854:R109C;ENSP00000308720:R95C;ENSP00000419912:R45C	ENSP00000308720:R95C	R	+	1	0	PRSS1	142139281	0.959000	0.32827	0.929000	0.37066	0.058000	0.15608	0.958000	0.29227	0.134000	0.18681	-1.424000	0.01105	CGC		PASS	0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			6	268	6	268	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142460325	142460325	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:142460325G>A	ENST00000311737.7	+	4	504	c.498G>A	c.(496-498)ctG>ctA	p.L166L	PRSS1_ENST00000486171.1_Silent_p.L180L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	166	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)	p.L166L(1)		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)	CTCCTGTGCTGAGCCAGGCTA	0.527																																						uc003wak.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(496-498)CTG>CTA		protease, serine, 1 preproprotein							316.0	308.0	310.0					7																	142460325		2203	4300	6503	SO:0001819	synonymous_variant	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142460325G>A	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.498G>A	7.37:g.142460325G>A						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.L106L	p.L166L	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	515	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	166			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.498G>A	CCDS5872.1																																																																																				PASS	0.527	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			26	697	26	697	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148516729	148516729	+	Silent	SNP	G	G	A	rs6954744		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:148516729G>A	ENST00000460911.1	-	9	1031	c.943C>T	c.(943-945)Cta>Tta	p.L315L	EZH2_ENST00000536783.1_Silent_p.L206L|EZH2_ENST00000541220.1_Silent_p.L306L|RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000350995.2_Silent_p.L276L|EZH2_ENST00000483967.1_Silent_p.L306L|EZH2_ENST00000320356.2_Silent_p.L320L|EZH2_ENST00000478654.1_Silent_p.L306L|EZH2_ENST00000476773.1_Silent_p.L306L			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	315	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)	p.L320L(1)|p.L276L(1)		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)			TTGTTGTCTAGAGCTGTTTCT	0.378			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(943-945)CTA>TTA		enhancer of zeste 2 isoform a							247.0	221.0	230.0					7																	148516729		2203	4300	6503	SO:0001819	synonymous_variant	2146				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.chr7:148516729G>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.943C>T	7.37:g.148516729G>A						EZH2_uc011kug.1_Silent_p.L306L|EZH2_uc003wfb.1_Silent_p.L320L|EZH2_uc003wfc.1_Silent_p.L276L|EZH2_uc011kuh.1_Silent_p.L306L|EZH2_uc011kui.1_Silent_p.L315L|EZH2_uc011kuj.1_RNA	p.L315L	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		9	1109	-	Melanoma(164;0.15)		315			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	c.943C>T	CCDS56516.1																																																																																				PASS	0.378	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		20	106	20	106	---	---	---	---
TMEM176B	28959	broad.mit.edu	37	7	150490335	150490335	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:150490335C>A	ENST00000447204.2	-	5	813	c.441G>T	c.(439-441)gtG>gtT	p.V147V	TMEM176B_ENST00000492607.1_Silent_p.V147V|TMEM176B_ENST00000326442.5_Silent_p.V147V|TMEM176B_ENST00000450753.2_Silent_p.V110V|TMEM176B_ENST00000429904.2_Silent_p.V147V|TMEM176B_ENST00000434545.1_Silent_p.V147V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	147					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V147V(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGCTATTCACGCAGAGGA	0.522																																						uc003wht.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)GTG>GTT		transmembrane protein 176B isoform a							92.0	79.0	83.0					7																	150490335		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490335C>A	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.441G>T	7.37:g.150490335C>A						TMEM176B_uc003whu.3_Silent_p.V147V|TMEM176B_uc003whv.3_Silent_p.V110V|TMEM176B_uc003whw.3_Silent_p.V147V	p.V147V	NM_001101313	NP_001094783	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	607	-			147			Helical; (Potential).		B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.441G>T	CCDS5908.1																																																																																				PASS	0.522	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		4	47	4	47	---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151791525	151791525	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:151791525C>G	ENST00000434507.1	+	4	650	c.213C>G	c.(211-213)ttC>ttG	p.F71L	GALNT11_ENST00000430044.2_Missense_Mutation_p.F71L|GALNT11_ENST00000320311.2_Missense_Mutation_p.F71L|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_Missense_Mutation_p.F71L|GALNT11_ENST00000415421.1_Missense_Mutation_p.F71L|GALNT11_ENST00000452146.2_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	71					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F71L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCCACAGTTCAAAGCAAACA	0.458																																						uc010lqg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)TTC>TTG		N-acetylgalactosaminyltransferase 11							87.0	90.0	89.0					7																	151791525		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791525C>G	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.213C>G	7.37:g.151791525C>G	ENSP00000416787:p.Phe71Leu					GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.F71L|GALNT11_uc003wkv.1_Missense_Mutation_p.F71L|GALNT11_uc011kvn.1_RNA	p.F71L	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	2	443	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	71			Lumenal (Potential).		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.213C>G	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705089	0.30232	.	.	ENSG00000178234	ENST00000430044;ENST00000431668;ENST00000446096;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796;ENST00000422997	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.66	1.18	0.20946	.	1.692330	0.02495	N	0.089890	T	0.15696	0.0378	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.15694	-1.0428	10	0.10111	T	0.7	.	3.1087	0.06351	0.2102:0.4452:0.2067:0.1379	.	71;71	Q8NCW6-2;Q8NCW6	.;GLT11_HUMAN	L	71	ENSP00000395122:F71L;ENSP00000395020:F71L;ENSP00000414890:F71L;ENSP00000393892:F71L;ENSP00000416787:F71L;ENSP00000410093:F71L;ENSP00000315835:F71L;ENSP00000397581:F71L;ENSP00000412142:F71L;ENSP00000389449:F71L	ENSP00000315835:F71L	F	+	3	2	GALNT11	151422458	0.977000	0.34250	0.443000	0.26883	0.884000	0.51177	0.290000	0.18975	0.291000	0.22468	0.563000	0.77884	TTC		PASS	0.458	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		11	81	11	81	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	156974312	156974312	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr7:156974312G>A	ENST00000348165.5	+	7	1077	c.717G>A	c.(715-717)gaG>gaA	p.E239E	UBE3C_ENST00000389103.4_Silent_p.E196E	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	239					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)	p.E239E(1)		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)		TTTTGCTAGAGAATGTTCTAA	0.353																																						uc010lqs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(715-717)GAG>GAA		ubiquitin protein ligase E3C							79.0	81.0	80.0					7																	156974312		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156974312G>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.717G>A	7.37:g.156974312G>A						UBE3C_uc003wnf.2_Silent_p.E196E|UBE3C_uc003wng.2_Silent_p.E239E	p.E239E	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	7	1029	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	239					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.717G>A	CCDS34789.1																																																																																				PASS	0.353	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		14	104	14	104	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1645454	1645454	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:1645454C>A	ENST00000421627.2	+	11	2832	c.2698C>A	c.(2698-2700)Ccg>Acg	p.P900T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	979					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.P908T(1)|p.P944T(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGGAGTCCCCGGAAAGAAA	0.582																																						uc003wpl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2698-2700)CCG>ACG		discs large-associated protein 2							65.0	71.0	69.0					8																	1645454		2002	4182	6184	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645454C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2698C>A	8.37:g.1645454C>A	ENSP00000400258:p.Pro900Thr					DLGAP2_uc003wpm.2_Missense_Mutation_p.P886T	p.P900T	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2795	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	979					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2698C>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393280	0.42410	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.13089	2.62	4.91	4.91	0.64330	.	0.099199	0.64402	D	0.000001	T	0.37758	0.1015	M	0.69248	2.105	0.44745	D	0.997741	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.16100	-1.0414	10	0.59425	D	0.04	-11.2819	18.0887	0.89466	0.0:1.0:0.0:0.0	.	965;979	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	T	931;900	ENSP00000400258:P900T	ENSP00000348366:P931T	P	+	1	0	DLGAP2	1632861	1.000000	0.71417	0.057000	0.19452	0.016000	0.09150	7.073000	0.76784	2.270000	0.75569	0.561000	0.74099	CCG		PASS	0.582	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		28	83	28	83	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3087750	3087750	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:3087750G>C	ENST00000520002.1	-	28	4715	c.4160C>G	c.(4159-4161)tCa>tGa	p.S1387*	CSMD1_ENST00000539096.1_Nonsense_Mutation_p.S1386*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S1386*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.S1387*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.S1386*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.S1387*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.S1387*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1387	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.S1115*(1)|p.S1386*(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)		GGCTGCAATTGAGGCTGCAAA	0.507																																						uc011kwk.1																			2	Substitution - Nonsense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(4159-4161)TCA>TGA		CUB and Sushi multiple domains 1 precursor							49.0	47.0	48.0					8																	3087750		2001	4190	6191	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3087750G>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.4160C>G	8.37:g.3087750G>C	ENSP00000430733:p.Ser1387*					CSMD1_uc011kwj.1_Nonsense_Mutation_p.S779*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.S543*	p.S1387*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	27	4550	-		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)	1387			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.4160C>G		.	.	.	.	.	.	.	.	.	.	G	46	12.538315	0.99676	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	6.1	6.1	0.99115	.	0.266590	0.31082	N	0.008294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.7146	0.99709	0.0:0.0:1.0:0.0	.	.	.	.	X	1387;1387;1249;1386;1386;1386	.	ENSP00000320445:S1249X	S	-	2	0	CSMD1	3075157	1.000000	0.71417	0.019000	0.16419	0.050000	0.14768	9.630000	0.98420	2.902000	0.99343	0.650000	0.86243	TCA		PASS	0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	27	6	27	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3565986	3565986	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:3565986C>T	ENST00000520002.1	-	7	1514	c.959G>A	c.(958-960)aGa>aAa	p.R320K	CSMD1_ENST00000539096.1_Missense_Mutation_p.R320K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R320K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R320K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R320K|CSMD1_ENST00000602557.1_Missense_Mutation_p.R320K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R320K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	320						integral component of membrane (GO:0016021)		p.R48K(1)|p.R320K(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)		CTTGACTCCTCTTGACTTCAA	0.438																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(958-960)AGA>AAA		CUB and Sushi multiple domains 1 precursor							100.0	99.0	99.0					8																	3565986		1984	4173	6157	SO:0001583	missense	64478					integral to membrane		g.chr8:3565986C>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.959G>A	8.37:g.3565986C>T	ENSP00000430733:p.Arg320Lys						p.R320K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	7	1349	-		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)	320			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.959G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.250911	0.95305	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.54	5.54	0.83059	.	.	.	.	.	D	0.88074	0.6339	L	0.55990	1.75	0.38136	D	0.938309	P	0.36392	0.551	P	0.44394	0.448	D	0.87431	0.2388	9	0.33141	T	0.24	.	17.6614	0.88193	0.0:1.0:0.0:0.0	.	320	E5RIG2	.	K	320;320;182;320;320;320	ENSP00000383047:R320K;ENSP00000430733:R320K;ENSP00000441462:R320K;ENSP00000446243:R320K;ENSP00000441675:R320K	ENSP00000320445:R182K	R	-	2	0	CSMD1	3553394	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.121000	0.71602	2.580000	0.87095	0.650000	0.86243	AGA		PASS	0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	28	6	28	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9590841	9590841	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:9590841G>C	ENST00000310430.6	+	15	2226	c.2200G>C	c.(2200-2202)Gag>Cag	p.E734Q	TNKS_ENST00000518281.1_Missense_Mutation_p.E497Q	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	734					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.E734Q(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)		TGAGGTGGCTGAGCTTTTAGT	0.408																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(2200-2202)GAG>CAG		tankyrase, TRF1-interacting ankyrin-related							145.0	133.0	137.0					8																	9590841		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.chr8:9590841G>C	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.2200G>C	8.37:g.9590841G>C	ENSP00000311579:p.Glu734Gln					TNKS_uc011kww.1_Missense_Mutation_p.E497Q|TNKS_uc010lrt.1_5'Flank	p.E734Q	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	15	2205	+			734			ANK 11.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2200G>C	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213296	0.95069	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.66460	-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	L	0.46741	1.465	0.80722	D	1	D	0.56035	0.974	P	0.57101	0.813	T	0.73132	-0.4079	10	0.48119	T	0.1	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	734	O95271	TNKS1_HUMAN	Q	734;497	ENSP00000311579:E734Q;ENSP00000429890:E497Q	ENSP00000311579:E734Q	E	+	1	0	TNKS	9628251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	GAG		PASS	0.408	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		15	109	15	109	---	---	---	---
PPP3CC	5533	broad.mit.edu	37	8	22386063	22386063	+	Nonsense_Mutation	SNP	G	G	T	rs139802616		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:22386063G>T	ENST00000240139.5	+	10	1441	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	PPP3CC_ENST00000397775.3_Nonsense_Mutation_p.E372*|PPP3CC_ENST00000289963.8_Nonsense_Mutation_p.E372*	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	372					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)	p.E372*(1)		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)		CTCTGATGACGAACTGATTTC	0.333																																						uc003xbs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1114-1116)GAA>TAA		protein phosphatase 3, catalytic subunit, gamma							169.0	153.0	159.0					8																	22386063		2203	4300	6503	SO:0001587	stop_gained	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22386063G>T		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.1114G>T	8.37:g.22386063G>T	ENSP00000240139:p.Glu372*					PPP3CC_uc011kzi.1_Nonsense_Mutation_p.E372*|PPP3CC_uc003xbt.2_Nonsense_Mutation_p.E372*|PPP3CC_uc011kzj.1_Nonsense_Mutation_p.E87*	p.E372*	NM_005605	NP_005596	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	10	1441	+		Prostate(55;0.104)	372					B4DRT5|Q9BSS6|Q9H4M5	Nonsense_Mutation	SNP	ENST00000240139.5	37	c.1114G>T	CCDS34859.1	.	.	.	.	.	.	.	.	.	.	G	40	7.943185	0.98574	.	.	ENSG00000120910	ENST00000240139;ENST00000289963;ENST00000397775	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.274	18.3696	0.90402	0.0:0.0:1.0:0.0	.	.	.	.	X	372	.	ENSP00000240139:E372X	E	+	1	0	PPP3CC	22442008	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	9.869000	0.99810	2.650000	0.89964	0.555000	0.69702	GAA		PASS	0.333	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605		13	80	13	80	---	---	---	---
SCARA3	51435	broad.mit.edu	37	8	27516290	27516290	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:27516290C>T	ENST00000301904.3	+	5	623	c.603C>T	c.(601-603)ggC>ggT	p.G201G	SCARA3_ENST00000337221.4_Silent_p.G201G	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	201					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)	p.G201G(1)		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)		CCACAGCTGGCCTGGACCTCT	0.607																																						uc003xga.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(601-603)GGC>GGT		scavenger receptor class A, member 3 isoform 1							32.0	33.0	33.0					8																	27516290		2203	4300	6503	SO:0001819	synonymous_variant	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516290C>T	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.603C>T	8.37:g.27516290C>T						SCARA3_uc003xgb.1_Silent_p.G201G	p.G201G	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	744	+		Ovarian(32;2.61e-05)	201			Extracellular (Potential).		Q9UM15|Q9UM16	Silent	SNP	ENST00000301904.3	37	c.603C>T	CCDS34871.1																																																																																				PASS	0.607	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		11	41	11	41	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38107250	38107250	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:38107250C>A	ENST00000397166.2	+	11	1798	c.1273C>A	c.(1273-1275)Cag>Aag	p.Q425K	DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425K|DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44K|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000528888.1_3'UTR	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																																						uc003xlb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1273-1275)CAG>AAG		DDHD domain containing 2 isoform 1							69.0	67.0	68.0					8																	38107250		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38107250C>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.1273C>A	8.37:g.38107250C>A	ENSP00000380352:p.Gln425Lys					DDHD2_uc003xlc.2_Missense_Mutation_p.Q425K|DDHD2_uc011lbl.1_Missense_Mutation_p.Q237K|DDHD2_uc003xld.2_Missense_Mutation_p.Q44K	p.Q425K	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		11	1650	+	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>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386739	0.11524	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.46819	0.86;0.86;0.86	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	0.18964	0.0455	N	0.02830	-0.485	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.09377	0.003;0.004	T	0.22591	-1.0212	10	0.05436	T	0.98	-18.2805	9.4121	0.38498	0.2626:0.6029:0.1345:0.0	.	237;425	B4DSR3;O94830	.;DDHD2_HUMAN	K	425;425;237;44	ENSP00000380352:Q425K;ENSP00000429932:Q425K;ENSP00000429017:Q44K	ENSP00000380352:Q425K	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		PASS	0.368	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		7	68	7	68	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38153399	38153399	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:38153399C>T	ENST00000317025.8	-	16	3347	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E895K|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E944K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	944					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)	p.E944K(1)		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)			CAGCAGCCTTCTGGCATTTCT	0.418			T	NUP98	AML																																	uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2830-2832)GAA>AAA		WHSC1L1 protein isoform long							115.0	106.0	109.0					8																	38153399		1854	4109	5963	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38153399C>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.2830G>A	8.37:g.38153399C>T	ENSP00000313983:p.Glu944Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E944K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E895K	p.E944K	NM_023034	NP_075447	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)		16	3348	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	944			PHD-type 3.		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.2830G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956345	0.73902	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.87412	-2.25;-2.25;-2.25	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.48767	U	0.000165	D	0.83166	0.5195	L	0.46157	1.445	0.80722	D	1	B;B;B	0.27068	0.104;0.167;0.104	B;B;B	0.31101	0.058;0.124;0.058	T	0.80754	-0.1241	10	0.62326	D	0.03	.	9.7678	0.40572	0.0:0.7855:0.1414:0.0731	.	944;895;944	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	K	895;944;881;944	ENSP00000393284:E895K;ENSP00000313983:E944K;ENSP00000434730:E944K	ENSP00000313983:E944K	E	-	1	0	WHSC1L1	38272556	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	4.018000	0.57174	2.707000	0.92482	0.557000	0.71058	GAA		PASS	0.418	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		75	105	75	105	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41790175	41790175	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:41790175T>A	ENST00000396930.3	-	18	6106	c.5563A>T	c.(5563-5565)Att>Ttt	p.I1855F	KAT6A_ENST00000265713.2_Missense_Mutation_p.I1855F|KAT6A_ENST00000406337.1_Missense_Mutation_p.I1855F	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1855					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)	p.I1855F(1)									CGGATGGAAATGTGCCCCTTC	0.587																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(5563-5565)ATT>TTT		MYST histone acetyltransferase (monocytic							121.0	83.0	96.0					8																	41790175		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.chr8:41790175T>A	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.5563A>T	8.37:g.41790175T>A	ENSP00000380136:p.Ile1855Phe					MYST3_uc010lxc.2_Missense_Mutation_p.I1855F|MYST3_uc003xon.3_Missense_Mutation_p.I1855F	p.I1855F	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	6107	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1855					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.5563A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674115	0.29693	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.65364	-0.15;-0.15;-0.15	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.65502	0.2697	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.68637	-0.5356	10	0.52906	T	0.07	-16.068	15.9132	0.79488	0.0:0.0:0.0:1.0	.	1855	Q92794	KAT6A_HUMAN	F	1855	ENSP00000265713:I1855F;ENSP00000385888:I1855F;ENSP00000380136:I1855F	ENSP00000265713:I1855F	I	-	1	0	KAT6A	41909332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.850000	0.55918	2.148000	0.66965	0.533000	0.62120	ATT		PASS	0.587	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		8	34	8	34	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48647946	48647946	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:48647946G>A	ENST00000297423.4	+	20	3066	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	SPIDR_ENST00000541342.1_Silent_p.P824P|SPIDR_ENST00000518074.1_Missense_Mutation_p.D835N|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000517693.1_Silent_p.P369P|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	894					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)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.P894P(1)									CCGCCCACCCGACCAGCTGCA	0.527																																						uc003xqd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2680-2682)CCG>CCA		hypothetical protein LOC23514							125.0	134.0	131.0					8																	48647946		1965	4147	6112	SO:0001819	synonymous_variant	23514							g.chr8:48647946G>A	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2682G>A	8.37:g.48647946G>A						KIAA0146_uc011ldc.1_Silent_p.P824P|KIAA0146_uc011ldd.1_Missense_Mutation_p.D835N|KIAA0146_uc003xqe.2_Silent_p.P369P|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_3'UTR|KIAA0146_uc011ldf.1_Silent_p.P399P|KIAA0146_uc011ldg.1_Silent_p.P384P|KIAA0146_uc003xqg.1_Intron	p.P894P	NM_001080394	NP_001073863	Q14159	K0146_HUMAN			20	2691	+		Lung NSC(58;0.175)	894					B4DFV2|B4E0Y6|Q96BI5	Silent	SNP	ENST00000297423.4	37	c.2682G>A	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	G	6.803	0.517171	0.13005	.	.	ENSG00000164808	ENST00000518074	.	.	.	5.73	-3.52	0.04682	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.31828	N	0.625124	B	0.14438	0.01	B	0.08055	0.003	T	0.17349	-1.0372	7	0.62326	D	0.03	.	3.4674	0.07554	0.4406:0.1008:0.3558:0.1028	.	835	B4E0Y6	.	N	835	.	ENSP00000429487:D835N	D	+	1	0	KIAA0146	48810499	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-2.333000	0.01108	-0.708000	0.05015	-0.350000	0.07774	GAC		PASS	0.527	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		18	158	18	158	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67547363	67547363	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:67547363C>G	ENST00000310421.4	-	3	3300	c.3042G>C	c.(3040-3042)aaG>aaC	p.K1014N		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1014					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.K1014N(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)			GCTCAGATTTCTTTTTCACTA	0.448																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(3040-3042)AAG>AAC		valosin containing protein (p97)/p47 complex							188.0	179.0	182.0					8																	67547363		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547363C>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.3042G>C	8.37:g.67547363C>G	ENSP00000309031:p.Lys1014Asn						p.K1014N	NM_025054	NP_079330	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)		3	3301	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1014					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.3042G>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267735	0.59540	.	.	ENSG00000175073	ENST00000310421	T	0.35973	1.28	6.08	5.2	0.72013	.	0.044764	0.85682	D	0.000000	T	0.45216	0.1331	L	0.27053	0.805	0.58432	D	0.999997	P	0.50528	0.936	P	0.61201	0.885	T	0.36768	-0.9734	10	0.66056	D	0.02	-13.4976	15.6955	0.77494	0.0:0.9339:0.0:0.0661	.	1014	Q96JH7	VCIP1_HUMAN	N	1014	ENSP00000309031:K1014N	ENSP00000309031:K1014N	K	-	3	2	VCPIP1	67709917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	2.894000	0.99253	0.591000	0.81541	AAG		PASS	0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			24	212	24	212	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69445345	69445345	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:69445345G>C	ENST00000539993.1	+	7	1357	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	C8orf34_ENST00000337103.4_Missense_Mutation_p.E245Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E356Q|C8orf34_ENST00000348340.2_Missense_Mutation_p.E270Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	270								p.E270Q(1)|p.E245Q(1)		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)			TGTAACAGAAGAAGATATTGA	0.358																																						uc010lyz.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(808-810)GAA>CAA		hypothetical protein LOC116328							110.0	107.0	108.0					8																	69445345		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69445345G>C	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.808G>C	8.37:g.69445345G>C	ENSP00000438159:p.Glu270Gln					C8orf34_uc010lyy.1_Missense_Mutation_p.E270Q|C8orf34_uc003xyb.2_Missense_Mutation_p.E245Q	p.E270Q	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	857	+			270					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.808G>C		.	.	.	.	.	.	.	.	.	.	G	23.7	4.442571	0.83993	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.50277	0.75;0.77;0.77	5.54	5.54	0.83059	.	0.208186	0.49916	D	0.000129	T	0.56366	0.1980	L	0.43152	1.355	0.44221	D	0.997056	D;B	0.53619	0.961;0.286	P;B	0.54590	0.756;0.355	T	0.49952	-0.8884	9	.	.	.	-15.4966	19.4567	0.94895	0.0:0.0:1.0:0.0	.	270;270	Q49A92;Q49A92-3	CH034_HUMAN;.	Q	356;270;270;245	ENSP00000427820:E356Q;ENSP00000438159:E270Q;ENSP00000337174:E245Q	.	E	+	1	0	C8orf34	69607899	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.802000	0.91910	2.609000	0.88269	0.591000	0.81541	GAA		PASS	0.358	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		30	108	30	108	---	---	---	---
CALB1	793	broad.mit.edu	37	8	91078134	91078134	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:91078134C>T	ENST00000265431.3	-	6	623	c.442G>A	c.(442-444)Gac>Aac	p.D148N	CALB1_ENST00000518457.1_Missense_Mutation_p.D91N	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	148	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)	p.D148N(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCATTAGGTCTGTATACTCG	0.353																																					Melanoma(46;573 1182 27367 39727 48386)	uc003yel.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(442-444)GAC>AAC		calbindin 1							123.0	110.0	114.0					8																	91078134		2203	4300	6503	SO:0001583	missense	793					nucleus	calcium ion binding|vitamin D binding	g.chr8:91078134C>T		CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.442G>A	8.37:g.91078134C>T	ENSP00000265431:p.Asp148Asn					CALB1_uc011lge.1_Missense_Mutation_p.D91N	p.D148N	NM_004929	NP_004920	P05937	CALB1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00953)		6	624	-			148			EF-hand 4.		B2R696|B7Z9J4	Missense_Mutation	SNP	ENST00000265431.3	37	c.442G>A	CCDS6251.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239271	0.58995	.	.	ENSG00000104327	ENST00000265431;ENST00000518457;ENST00000523716;ENST00000520613	T;T;T;T	0.73681	-0.77;-0.77;-0.77;2.8	6.05	6.05	0.98169	EF-hand-like domain (1);	0.265155	0.36303	N	0.002662	T	0.67287	0.2877	L	0.38838	1.175	0.38959	D	0.958502	B	0.31519	0.327	B	0.30316	0.114	T	0.69510	-0.5126	10	0.66056	D	0.02	-19.7447	16.0133	0.80420	0.0:0.8664:0.1336:0.0	.	148	P05937	CALB1_HUMAN	N	148;91;91;91	ENSP00000265431:D148N;ENSP00000429602:D91N;ENSP00000429246:D91N;ENSP00000430281:D91N	ENSP00000265431:D148N	D	-	1	0	CALB1	91147310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	2.878000	0.98634	0.650000	0.86243	GAC		PASS	0.353	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259338.2	NM_004929		25	78	25	78	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92982910	92982910	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:92982910G>C	ENST00000523629.1	-	11	1969	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.I478M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.I468M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.I516M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.I478M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.I468M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.I468M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.I505M	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)	505					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)	p.I505M(1)|p.I468M(1)|p.I516M(1)		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)			CCTGCTGATTGATAACTGCCA	0.522																																						uc003yfd.2																			3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1513-1515)ATC>ATG		acute myelogenous leukemia 1 translocation 1							66.0	61.0	63.0					8																	92982910		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92982910G>C	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.1515C>G	8.37:g.92982910G>C	ENSP00000428543:p.Ile505Met					RUNX1T1_uc003yfc.1_Missense_Mutation_p.I478M|RUNX1T1_uc003yfe.1_Missense_Mutation_p.I468M|RUNX1T1_uc010mao.2_Missense_Mutation_p.I478M|RUNX1T1_uc011lgi.1_Missense_Mutation_p.I516M|RUNX1T1_uc010man.1_Missense_Mutation_p.I130M|RUNX1T1_uc003yfb.1_Missense_Mutation_p.I468M	p.I505M	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1599	-			505					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1515C>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821467	0.71028	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	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	5.77	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.75264	2.295	0.53688	D	0.999977	P;P;D;P	0.63046	0.819;0.835;0.992;0.942	P;P;P;P	0.62184	0.615;0.635;0.899;0.62	T	0.64101	-0.6486	10	0.62326	D	0.03	-17.5731	11.9965	0.53206	0.1394:0.0:0.8606:0.0	.	516;468;505;478	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	M	505;478;505;468;468;468;516;478	ENSP00000428543:I505M;ENSP00000379520:I478M;ENSP00000265814:I505M;ENSP00000353504:I468M;ENSP00000390137:I468M;ENSP00000428742:I468M;ENSP00000402257:I516M;ENSP00000430728:I478M	ENSP00000265814:I505M	I	-	3	3	RUNX1T1	93052086	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.888000	0.63164	1.443000	0.47586	0.655000	0.94253	ATC		PASS	0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		14	61	14	61	---	---	---	---
PDP1	54704	broad.mit.edu	37	8	94935387	94935387	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:94935387G>C	ENST00000297598.4	+	2	1369	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	PDP1_ENST00000520728.1_Missense_Mutation_p.R367T|PDP1_ENST00000517764.1_Missense_Mutation_p.R367T|PDP1_ENST00000396200.3_Missense_Mutation_p.R392T	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	367					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)	p.R367T(1)|p.R392T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CTTCAAAAGAGAGTGATAGAA	0.443																																						uc003yge.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(1099-1101)AGA>ACA		pyruvate dehyrogenase phosphatase catalytic							102.0	102.0	102.0					8																	94935387		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.chr8:94935387G>C	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.1100G>C	8.37:g.94935387G>C	ENSP00000297598:p.Arg367Thr					PDP1_uc003ygf.2_Missense_Mutation_p.R392T|PDP1_uc010max.2_Missense_Mutation_p.R392T|PDP1_uc011lgm.1_Missense_Mutation_p.R367T|PDP1_uc011lgn.1_Missense_Mutation_p.R426T	p.R367T	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	1369	+			367					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.1100G>C	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112179	0.56398	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.47528	0.85;0.85;0.84;0.85	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.047318	0.85682	D	0.000000	T	0.41305	0.1153	L	0.35542	1.07	0.80722	D	1	P;P	0.42010	0.768;0.536	B;B	0.38225	0.268;0.253	T	0.09930	-1.0652	10	0.25751	T	0.34	-11.5958	20.8598	0.99761	0.0:0.0:1.0:0.0	.	418;367	B4DYX8;Q9P0J1	.;PDP1_HUMAN	T	367;367;392;367	ENSP00000297598:R367T;ENSP00000428317:R367T;ENSP00000379503:R392T;ENSP00000430380:R367T	ENSP00000297598:R367T	R	+	2	0	PDP1	95004563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.937000	0.99478	0.650000	0.86243	AGA		PASS	0.443	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		16	146	16	146	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100155294	100155294	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:100155294C>G	ENST00000358544.2	+	13	1855	c.1744C>G	c.(1744-1746)Ctt>Gtt	p.L582V	VPS13B_ENST00000357162.2_Missense_Mutation_p.L582V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L582V|VPS13B_ENST00000395996.1_Missense_Mutation_p.L582V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	582					protein transport (GO:0015031)			p.L582V(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	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGTCCTCTTGATTTTCG	0.398																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1744-1746)CTT>GTT		vacuolar protein sorting 13B isoform 5							132.0	129.0	130.0					8																	100155294		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100155294C>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.1744C>G	8.37:g.100155294C>G	ENSP00000351346:p.Leu582Val					VPS13B_uc003yiw.2_Missense_Mutation_p.L582V|VPS13B_uc003yit.2_Missense_Mutation_p.L582V|VPS13B_uc003yiu.1_Missense_Mutation_p.L582V|VPS13B_uc003yix.1_Missense_Mutation_p.L53V	p.L582V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		13	1855	+	Breast(36;3.73e-07)		582					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1744C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762527	0.31228	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78126	-1.15;-0.46;-0.46;-0.16	5.43	3.63	0.41609	.	0.100068	0.43579	D	0.000560	T	0.59074	0.2167	N	0.17082	0.46	0.39175	D	0.962663	P;P;P;P;P	0.46277	0.875;0.875;0.802;0.875;0.875	B;B;B;B;B	0.40825	0.341;0.341;0.184;0.341;0.341	T	0.60398	-0.7271	10	0.41790	T	0.15	.	6.2929	0.21069	0.1494:0.6987:0.0:0.1518	.	582;582;582;582;582	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	582	ENSP00000347281:L582V;ENSP00000349685:L582V;ENSP00000351346:L582V;ENSP00000379318:L582V	ENSP00000347281:L582V	L	+	1	0	VPS13B	100224470	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.206000	0.42779	1.280000	0.44463	0.591000	0.81541	CTT		PASS	0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		20	160	20	160	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107782077	107782077	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:107782077G>A	ENST00000311955.3	-	1	396	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.V114V(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			AAGTCTTGCTGACCACCGTTT	0.547																																						uc003ymm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(340-342)GTC>GTT		actin-binding Rho activating protein							155.0	140.0	145.0					8																	107782077		2203	4300	6503	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.chr8:107782077G>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.342C>T	8.37:g.107782077G>A							p.V114V	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	396	-			114						Silent	SNP	ENST00000311955.3	37	c.342C>T	CCDS6305.1																																																																																				PASS	0.547	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		18	266	18	266	---	---	---	---
EMC2	9694	broad.mit.edu	37	8	109462667	109462667	+	Silent	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:109462667A>T	ENST00000220853.3	+	3	200	c.165A>T	c.(163-165)atA>atT	p.I55I		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	55						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.I55I(1)									TTTGGATCATATATGAACAGG	0.303																																						uc003ymw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(163-165)ATA>ATT		tetratricopeptide repeat domain 35							181.0	177.0	179.0					8																	109462667		2203	4300	6503	SO:0001819	synonymous_variant	9694					endoplasmic reticulum|nucleus	binding	g.chr8:109462667A>T	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.165A>T	8.37:g.109462667A>T							p.I55I	NM_014673	NP_055488	Q15006	TTC35_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)		3	200	+			55					Q8WUE1	Silent	SNP	ENST00000220853.3	37	c.165A>T	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464084	0.26335	.	.	ENSG00000104412	ENST00000519642	.	.	.	5.86	4.7	0.59300	.	.	.	.	.	T	0.56016	0.1957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53507	-0.8429	4	.	.	.	-11.9287	6.4455	0.21873	0.6981:0.0:0.0663:0.2357	.	.	.	.	F	3	.	.	Y	+	2	0	TTC35	109531843	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.748000	0.38308	1.143000	0.42306	0.528000	0.53228	TAT		PASS	0.303	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		97	135	97	135	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113651004	113651004	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:113651004G>T	ENST00000297405.5	-	21	3691	c.3447C>A	c.(3445-3447)ctC>ctA	p.L1149L	CSMD3_ENST00000455883.2_Silent_p.L1045L|CSMD3_ENST00000343508.3_Silent_p.L1109L|CSMD3_ENST00000352409.3_Silent_p.L1149L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1149	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1149L(1)|p.L1109L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTCCATAGAGACCAGCAT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3445-3447)CTC>CTA		CUB and Sushi multiple domains 3 isoform 1							95.0	95.0	95.0					8																	113651004		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113651004G>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.3447C>A	8.37:g.113651004G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L421L|CSMD3_uc003ynt.2_Silent_p.L1109L|CSMD3_uc011lhx.1_Silent_p.L1045L	p.L1149L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3606	-			1149			Extracellular (Potential).|CUB 6.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3447C>A	CCDS6315.1																																																																																				PASS	0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		21	113	21	113	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426593	116426593	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:116426593G>A	ENST00000220888.5	-	6	3663	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I	TRPS1_ENST00000395715.3_Silent_p.I1181I|TRPS1_ENST00000520276.1_Silent_p.I1172I|TRPS1_ENST00000519076.1_Silent_p.I922I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1168	Mediates interaction with RNF4. {ECO:0000250}.|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.I1181I(1)|p.I1168I(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)			TGGAATGCTTGATCGCCAAAT	0.443									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3502-3504)ATC>ATT		zinc finger transcription factor TRPS1							81.0	79.0	80.0					8																	116426593		1957	4146	6103	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.chr8:116426593G>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.3504C>T	8.37:g.116426593G>A						TRPS1_uc011lhy.1_Silent_p.I1172I|TRPS1_uc003yny.2_Silent_p.I1181I|TRPS1_uc010mcy.2_Silent_p.I1168I	p.I1168I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3963	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1168			Transcriptional repressor domain (By similarity).|Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.3504C>T																																																																																					PASS	0.443	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		11	113	11	113	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616834	116616834	+	Silent	SNP	G	G	A	rs375336150		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:116616834G>A	ENST00000220888.5	-	3	1482	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	TRPS1_ENST00000519674.1_Silent_p.F441F|TRPS1_ENST00000395715.3_Silent_p.F454F|TRPS1_ENST00000520276.1_Silent_p.F445F|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	441					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.F454F(1)|p.F441F(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)			ACTCACAGCTGAAACTACAAA	0.463									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1321-1323)TTC>TTT		zinc finger transcription factor TRPS1		G		1,3841		0,1,1920	59.0	58.0	59.0		1362	5.7	1.0	8		59	1,8261		0,1,4130	no	coding-synonymous	TRPS1	NM_014112.2		0,2,6050	AA,AG,GG		0.0121,0.026,0.0165		454/1295	116616834	2,12102	1921	4131	6052	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.chr8:116616834G>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.1323C>T	8.37:g.116616834G>A						TRPS1_uc011lhy.1_Silent_p.F445F|TRPS1_uc003yny.2_Silent_p.F454F|TRPS1_uc010mcy.2_Silent_p.F441F	p.F441F	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1782	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		441					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.1323C>T																																																																																					PASS	0.463	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		17	99	17	99	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120772851	120772851	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:120772851C>T	ENST00000378164.2	-	20	2984	c.2686G>A	c.(2686-2688)Gat>Aat	p.D896N	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	896					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D896N(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTAGTATAATCAACAACTGCT	0.353																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2686-2688)GAT>AAT		TBP-associated factor 2							81.0	78.0	79.0					8																	120772851		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.chr8:120772851C>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.2686G>A	8.37:g.120772851C>T	ENSP00000367406:p.Asp896Asn						p.D896N	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		20	2956	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		896					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2686G>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	35	5.532287	0.96446	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.43688	0.94;0.94	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.68447	-0.5406	10	0.72032	D	0.01	-0.2313	20.6439	0.99570	0.0:1.0:0.0:0.0	.	896	Q6P1X5	TAF2_HUMAN	N	896;20	ENSP00000367406:D896N;ENSP00000436750:D20N	ENSP00000367406:D896N	D	-	1	0	TAF2	120842032	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.722000	0.84778	2.890000	0.99128	0.650000	0.86243	GAT		PASS	0.353	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		16	111	16	111	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124132346	124132347	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:124132346_124132347TC>AT	ENST00000287380.1	+	11	1578_1579	c.1488_1489TC>AT	c.(1486-1491)taTCtt>taATtt	p.496_497YL>*F	TBC1D31_ENST00000518805.1_Nonsense_Mutation_p.129_130YL>*F|TBC1D31_ENST00000309336.3_Nonsense_Mutation_p.496_497YL>*F|TBC1D31_ENST00000327098.5_Nonsense_Mutation_p.496_497YL>*F|TBC1D31_ENST00000521676.1_Nonsense_Mutation_p.373_374YL>*F|TBC1D31_ENST00000522420.1_Nonsense_Mutation_p.391_392YL>*F|TBC1D31_ENST00000378080.2_Nonsense_Mutation_p.391_392YL>*F	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	496	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.Y496*(1)|p.L497F(1)|p.Y496_L497>*(1)									ACACACCATATCTTCCACTCTT	0.297																																						uc003ypp.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - deletion inframe(1)		lung(3)	skin(1)	1						c.(1486-1488)TAT>TAA|c.(1489-1491)CTT>TTT		WD repeat domain 67 isoform 1																																				SO:0001587	stop_gained	93594					centrosome	Rab GTPase activator activity	g.chr8:124132346T>A|g.chr8:124132347C>T	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	Exception_encountered	8.37:g.124132346_124132347delinsAT	ENSP00000287380:p.Y496_L497delins*F					WDR67_uc011lig.1_Nonsense_Mutation_p.Y496*|WDR67_uc011lih.1_Nonsense_Mutation_p.Y386*|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Nonsense_Mutation_p.Y209*|WDR67_uc011lig.1_Missense_Mutation_p.L497F|WDR67_uc011lih.1_Missense_Mutation_p.L387F|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.L210F	p.Y496*|p.L497F	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		11	1578|1579	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		496|497			Rab-GAP TBC.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000287380.1	37	c.1488T>A|c.1489C>T	CCDS6338.1																																																																																				PASS	0.297	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		7	70|69	7	69	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	132051841	132051841	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:132051841C>A	ENST00000286355.5	-	1	2831	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L	ADCY8_ENST00000377928.3_Missense_Mutation_p.V247L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V247L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGGTGACCACGCCGCTGTAC	0.637										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(739-741)GTG>TTG		adenylate cyclase 8							53.0	46.0	48.0					8																	132051841		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.chr8:132051841C>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.739G>T	8.37:g.132051841C>A	ENSP00000286355:p.Val247Leu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.V247L	p.V247L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	995	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		247			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.739G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	1.255	-0.617385	0.03663	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.34072	1.38;1.38	5.46	2.49	0.30216	.	0.381500	0.23989	N	0.042591	T	0.18509	0.0444	N	0.10916	0.065	0.23371	N	0.997812	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21449	-1.0245	10	0.02654	T	1	.	17.1035	0.86656	0.0:0.5888:0.4112:0.0	.	247;247	E7EVL1;P40145	.;ADCY8_HUMAN	L	247	ENSP00000286355:V247L;ENSP00000367161:V247L	ENSP00000286355:V247L	V	-	1	0	ADCY8	132121023	0.025000	0.19082	0.811000	0.32455	0.922000	0.55478	0.363000	0.20301	0.634000	0.30469	0.455000	0.32223	GTG		PASS	0.637	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			3	63	3	63	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139160775	139160775	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:139160775G>C	ENST00000395297.1	-	14	3606	c.3436C>G	c.(3436-3438)Cat>Gat	p.H1146D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1146								p.H1146D(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCAGGCCATGGACACAGACA	0.353										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3436-3438)CAT>GAT		hypothetical protein LOC51059							134.0	118.0	123.0					8																	139160775		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160775G>C	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.3436C>G	8.37:g.139160775G>C	ENSP00000378710:p.His1146Asp	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.H1047D|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H708D|FAM135B_uc003yvb.2_Missense_Mutation_p.P673R	p.H1146D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3607	-	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)		1146					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3436C>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341153	0.60963	.	.	ENSG00000147724	ENST00000395297	T	0.73789	-0.78	5.96	5.96	0.96718	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	D	0.91267	0.7247	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93183	0.6576	10	0.87932	D	0	-18.3122	19.4074	0.94653	0.0:0.0:1.0:0.0	.	1146;1146	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	D	1146	ENSP00000378710:H1146D	ENSP00000378710:H1146D	H	-	1	0	FAM135B	139229957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CAT		PASS	0.353	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	95	20	95	---	---	---	---
SLURP1	57152	broad.mit.edu	37	8	143822632	143822632	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:143822632C>T	ENST00000246515.1	-	3	266	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	81					cell activation (GO:0001775)|cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.D81N(1)		breast(1)|lung(7)|ovary(1)	9	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)					CTGTCGGGGTCGGTGGCCACA	0.662																																						uc003ywy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GAC>AAC		ARS component B precursor																																				SO:0001583	missense	57152				cell activation|cell adhesion	extracellular space	cytokine activity	g.chr8:143822632C>T	AY579080	CCDS6387.1	8q24.3	2004-11-16			ENSG00000126233	ENSG00000126233			18746	protein-coding gene	gene with protein product	"""lymphocyte antigen 6-like secreted"", ""ARS component B"""	606119				11285253, 10211827	Standard	NM_020427		Approved	ARS, ANUP, MDM, ArsB, LY6LS	uc003ywy.3	P55000	OTTHUMG00000164685	ENST00000246515.1:c.241G>A	8.37:g.143822632C>T	ENSP00000246515:p.Asp81Asn						p.D81N	NM_020427	NP_065160	P55000	SLUR1_HUMAN			3	267	-	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)		81					Q53YJ6|Q6PUA6|Q92483	Missense_Mutation	SNP	ENST00000246515.1	37	c.241G>A	CCDS6387.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566529	0.28003	.	.	ENSG00000126233	ENST00000246515	T	0.70869	-0.52	3.76	2.86	0.33363	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.252351	0.32328	N	0.006245	T	0.64316	0.2587	L	0.55103	1.725	0.28803	N	0.898682	D	0.57571	0.98	P	0.47134	0.539	T	0.59166	-0.7505	10	0.32370	T	0.25	.	6.4696	0.22001	0.0:0.866:0.0:0.134	.	81	P55000	SLUR1_HUMAN	N	81	ENSP00000246515:D81N	ENSP00000246515:D81N	D	-	1	0	SLURP1	143819634	0.853000	0.29707	0.817000	0.32601	0.105000	0.19272	2.253000	0.43205	2.065000	0.61736	0.448000	0.29417	GAC		PASS	0.662	SLURP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379741.1	NM_020427		7	35	7	35	---	---	---	---
TOP1MT	116447	broad.mit.edu	37	8	144407560	144407560	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:144407560C>T	ENST00000329245.4	-	5	661	c.627G>A	c.(625-627)ctG>ctA	p.L209L	TOP1MT_ENST00000519148.1_Silent_p.L111L|TOP1MT_ENST00000523676.1_Silent_p.L111L|TOP1MT_ENST00000521193.1_Silent_p.L111L	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	209					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.L209L(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	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)		Irinotecan(DB00762)|Topotecan(DB01030)	TCCTTCTCTTCAGCATCCCCA	0.592																																						uc003yxz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(625-627)CTG>CTA		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						82.0	75.0	78.0					8																	144407560		2202	4300	6502	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144407560C>T	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.627G>A	8.37:g.144407560C>T						TOP1MT_uc011lkd.1_Silent_p.L111L|TOP1MT_uc011lke.1_Silent_p.L111L|TOP1MT_uc010mfb.2_Silent_p.L111L|TOP1MT_uc011lkf.1_Silent_p.L4L|TOP1MT_uc010mfd.1_Silent_p.L4L	p.L209L	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		5	646	-	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)		209					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.627G>A	CCDS6400.1																																																																																				PASS	0.592	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		9	78	9	78	---	---	---	---
EEF1D	1936	broad.mit.edu	37	8	144663474	144663474	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:144663474C>A	ENST00000529272.1	-	4	614	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000528610.1_Missense_Mutation_p.G48C|EEF1D_ENST00000532741.1_Missense_Mutation_p.G488C|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000395119.3_Missense_Mutation_p.G72C|NAPRT1_ENST00000435154.3_5'Flank|EEF1D_ENST00000531621.1_Missense_Mutation_p.G48C|EEF1D_ENST00000442189.2_Missense_Mutation_p.G438C|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000317198.6_Missense_Mutation_p.G72C|EEF1D_ENST00000423316.2_Missense_Mutation_p.G438C|EEF1D_ENST00000526838.1_Missense_Mutation_p.G72C|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Missense_Mutation_p.G72C|EEF1D_ENST00000524624.1_Missense_Mutation_p.G48C			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	72					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)	p.G438C(1)		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)			CCGCTGGTGCCGCTGGAGGCC	0.692																																						uc011lki.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(214-216)GGC>TGC		eukaryotic translation elongation factor 1 delta							19.0	19.0	19.0					8																	144663474		2197	4292	6489	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.chr8:144663474C>A	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.214G>T	8.37:g.144663474C>A	ENSP00000434872:p.Gly72Cys					NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.G414C|EEF1D_uc003yyq.1_Missense_Mutation_p.G488C|EEF1D_uc011lkj.1_Missense_Mutation_p.G437C|EEF1D_uc003yyr.2_Missense_Mutation_p.G438C|EEF1D_uc003yyt.2_Missense_Mutation_p.G438C|EEF1D_uc011lkk.1_Missense_Mutation_p.G72C|EEF1D_uc003yys.2_Missense_Mutation_p.G72C|EEF1D_uc003yyv.2_Missense_Mutation_p.G48C|EEF1D_uc003yyu.2_Missense_Mutation_p.G72C|EEF1D_uc011lkl.1_Missense_Mutation_p.G72C	p.G72C	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		4	483	-	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)		72					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.214G>T	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795180	0.31777	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749	.	.	.	4.5	2.69	0.31865	.	0.444056	0.25677	N	0.029022	T	0.62648	0.2445	M	0.72894	2.215	0.26296	N	0.978056	D;D;D;D;D;D	0.89917	0.993;0.961;0.994;1.0;0.999;0.999	P;P;D;D;D;D	0.72982	0.899;0.748;0.957;0.979;0.942;0.943	T	0.54463	-0.8290	9	0.72032	D	0.01	.	8.7297	0.34491	0.0:0.8237:0.0:0.1763	.	72;438;366;72;488;438	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	C	72;488;72;438;48;72;72;438;366;72;438;48;48;72;48;72;72;72;72;72;72;88	.	ENSP00000317399:G72C	G	-	1	0	EEF1D	144734617	0.910000	0.30920	0.733000	0.30861	0.008000	0.06430	1.419000	0.34793	0.450000	0.26774	-1.101000	0.02118	GGC		PASS	0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		5	47	5	47	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537690	145537690	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:145537690G>A	ENST00000528838.1	+	12	1517	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	DGAT1_ENST00000527438.1_5'Flank|HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Missense_Mutation_p.E394K|GS1-393G12.12_ENST00000525023.1_RNA	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	453	Transactivation domain.				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)	p.E453K(1)		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)			CAGGCCTCCCGAGGCAGAGAA	0.687																																						uc003zbt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1357-1359)GAG>AAG		heat shock transcription factor 1							38.0	47.0	44.0					8																	145537690		2200	4296	6496	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145537690G>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.1357G>A	8.37:g.145537690G>A	ENSP00000431512:p.Glu453Lys					HSF1_uc003zbu.3_RNA	p.E453K	NM_005526	NP_005517	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)		12	1527	+	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)		453			Transactivation domain.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.1357G>A	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	G	7.856	0.725006	0.15439	.	.	ENSG00000185122	ENST00000528838;ENST00000400780	.	.	.	4.04	4.04	0.47022	Vertebrate heat shock transcription factor (1);	1.202280	0.06246	N	0.691319	T	0.53642	0.1809	L	0.54323	1.7	0.33000	D	0.526112	P	0.42757	0.789	B	0.40864	0.342	T	0.57081	-0.7872	9	0.35671	T	0.21	-28.1643	14.0757	0.64889	0.0:0.0:1.0:0.0	.	453	Q00613	HSF1_HUMAN	K	453;394	.	ENSP00000383590:E394K	E	+	1	0	HSF1	145508498	0.998000	0.40836	0.880000	0.34516	0.102000	0.19082	3.206000	0.51098	2.266000	0.75297	0.650000	0.86243	GAG		PASS	0.687	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		8	71	8	71	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145665533	145665533	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:145665533C>G	ENST00000409379.3	-	11	1380	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	451	Glu-rich.				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)	p.E292Q(1)|p.E451Q(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GTTTCGGTCTCAGGGGCCTCC	0.632																																						uc011llg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1351-1353)GAG>CAG		NF-kappa-B inhibitor-like protein 2							39.0	42.0	41.0					8																	145665533		2201	4296	6497	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.chr8:145665533C>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.1351G>C	8.37:g.145665533C>G	ENSP00000386239:p.Glu451Gln						p.E451Q	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		11	1366	-	all_cancers(97;4.61e-11)|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)		451			Glu-rich.		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.1351G>C	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	3.415	-0.119463	0.06838	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.43294	0.95	5.7	-2.72	0.05968	.	1.221480	0.05431	N	0.545881	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17715	-1.0360	10	0.23891	T	0.37	-1.2692	6.3224	0.21225	0.126:0.349:0.0:0.525	.	451	Q96HA7	TONSL_HUMAN	Q	451	ENSP00000386239:E451Q	ENSP00000386239:E451Q	E	-	1	0	TONSL	145636341	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.083000	0.11286	-0.389000	0.07786	-0.136000	0.14681	GAG		PASS	0.632	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		35	93	35	93	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146016768	146016768	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:146016768C>T	ENST00000262584.3	-	4	625	c.393G>A	c.(391-393)ggG>ggA	p.G131G	RPL8_ENST00000394920.2_Silent_p.G131G|RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.G131G	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	131					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.G131G(1)		kidney(12)|lung(7)|prostate(1)	20	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)	GBM - Glioblastoma multiforme(99;0.191)		TGGCATAGTTCCCTGATGCCC	0.592																																						uc003zeb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(391-393)GGG>GGA		ribosomal protein L8							65.0	60.0	61.0					8																	146016768		2203	4300	6503	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146016768C>T	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.393G>A	8.37:g.146016768C>T						RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.G95G|RPL8_uc003zec.2_Silent_p.G131G|RPL8_uc010mgc.2_3'UTR	p.G131G	NM_033301	NP_150644	P62917	RL8_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)	GBM - Glioblastoma multiforme(99;0.191)	4	504	-	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)		131					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.393G>A	CCDS6433.1																																																																																				PASS	0.592	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		6	100	6	100	---	---	---	---
ZNF7	7553	broad.mit.edu	37	8	146067569	146067569	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr8:146067569G>A	ENST00000528372.1	+	5	1317	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Silent_p.E263E|ZNF7_ENST00000446747.2_Silent_p.E370E|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.E359E			P17097	ZNF7_HUMAN	zinc finger protein 7	359					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)	p.E359E(1)		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)		ACACTGGGGAGAGGCCCTACC	0.552																																						uc003zeg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1075-1077)GAG>GAA		zinc finger protein 7							60.0	56.0	57.0					8																	146067569		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.chr8:146067569G>A	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.1077G>A	8.37:g.146067569G>A						ZNF7_uc010mge.2_Silent_p.E370E|ZNF7_uc011lln.1_Silent_p.E263E|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.E263E|COMMD5_uc003zel.1_Intron	p.E359E	NM_003416	NP_003407	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	1214	+	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)	359					B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	37	c.1077G>A	CCDS6435.1																																																																																				PASS	0.552	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		5	96	5	96	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8375957	8375957	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:8375957C>G	ENST00000381196.4	-	36	5183	c.4640G>C	c.(4639-4641)gGt>gCt	p.G1547A	PTPRD_ENST00000356435.5_Missense_Mutation_p.G1547A|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1137A|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1137A|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1534A|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1525A|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1141A|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1140A|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1140A|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1140A|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1547A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1547	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)	p.G1547A(2)|p.G1141A(1)|p.G1018A(1)		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)		AACCATCGGACCAGCATCGGG	0.468										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(4639-4641)GGT>GCT		protein tyrosine phosphatase, receptor type, D							111.0	98.0	102.0					9																	8375957		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8375957C>G	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.4640G>C	9.37:g.8375957C>G	ENSP00000370593:p.Gly1547Ala	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.G1141A|PTPRD_uc003zkq.2_Missense_Mutation_p.G1140A|PTPRD_uc003zkr.2_Missense_Mutation_p.G1131A|PTPRD_uc003zks.2_Missense_Mutation_p.G1140A|PTPRD_uc003zkl.2_Missense_Mutation_p.G1538A|PTPRD_uc003zkm.2_Missense_Mutation_p.G1534A|PTPRD_uc003zkn.2_Missense_Mutation_p.G1136A|PTPRD_uc003zko.2_Missense_Mutation_p.G1137A	p.G1547A	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	38	5351	-		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)	1547			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4640G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492130	0.64074	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.69248	2.105	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998;0.988;1.0;1.0;0.999	D;D;D;D;D;P;D;D;D	0.97110	0.998;0.994;0.994;0.994;0.983;0.683;0.977;1.0;0.974	T	0.57347	-0.7827	9	.	.	.	.	19.8352	0.96655	0.0:1.0:0.0:0.0	.	1140;1131;1140;1141;1137;1137;1534;1547;1547	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	A	1547;1547;1534;1525;1141;1140;1137;1137;1018;1547;1140;1140	ENSP00000370593:G1547A;ENSP00000348812:G1547A;ENSP00000353187:G1534A;ENSP00000351293:G1525A;ENSP00000347373:G1141A;ENSP00000380741:G1140A;ENSP00000380735:G1137A;ENSP00000440515:G1137A;ENSP00000438164:G1547A;ENSP00000417093:G1140A;ENSP00000380731:G1140A	.	G	-	2	0	PTPRD	8365957	1.000000	0.71417	0.957000	0.39632	0.356000	0.29392	7.776000	0.85560	2.698000	0.92095	0.585000	0.79938	GGT		PASS	0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			4	62	4	62	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8484269	8484269	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:8484269C>A	ENST00000381196.4	-	27	3806	c.3263G>T	c.(3262-3264)cGt>cTt	p.R1088L	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1088L|PTPRD_ENST00000397611.3_Missense_Mutation_p.R674L|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000537002.1_Missense_Mutation_p.R674L|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1075L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1066L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R677L|PTPRD_ENST00000486161.1_Missense_Mutation_p.R677L|PTPRD_ENST00000397617.3_Missense_Mutation_p.R667L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R667L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1088L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1088	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1088L(2)|p.R677L(1)		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)		ACTGTTTCCACGATTTGTCAG	0.478										TSP Lung(15;0.13)																												uc003zkk.2																			3	Substitution - Missense(3)		lung(3)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3262-3264)CGT>CTT		protein tyrosine phosphatase, receptor type, D							128.0	110.0	116.0					9																	8484269		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.chr9:8484269C>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.3263G>T	9.37:g.8484269C>A	ENSP00000370593:p.Arg1088Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R677L|PTPRD_uc003zkq.2_Missense_Mutation_p.R677L|PTPRD_uc003zkr.2_Missense_Mutation_p.R672L|PTPRD_uc003zks.2_Missense_Mutation_p.R667L|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079L|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075L|PTPRD_uc003zkn.2_Missense_Mutation_p.R677L|PTPRD_uc003zko.2_Missense_Mutation_p.R674L	p.R1088L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	3974	-		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)	1088			Fibronectin type-III 8.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3263G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280602	0.80692	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;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;0.64;0.64	6.06	6.06	0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.053923	0.85682	D	0.000000	T	0.62024	0.2394	M	0.64404	1.975	0.80722	D	1	B;B;B;B;B;B;P;P;B	0.38148	0.427;0.216;0.334;0.221;0.351;0.375;0.62;0.551;0.307	B;B;B;B;P;B;B;B;B	0.49999	0.115;0.032;0.058;0.037;0.628;0.121;0.25;0.233;0.162	T	0.53049	-0.8493	9	.	.	.	.	20.2312	0.98350	0.0:1.0:0.0:0.0	.	667;672;677;677;674;674;1075;1088;1088	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1088;1088;1075;1066;677;667;674;674;1088;677;667	ENSP00000370593:R1088L;ENSP00000348812:R1088L;ENSP00000353187:R1075L;ENSP00000351293:R1066L;ENSP00000347373:R677L;ENSP00000380741:R667L;ENSP00000380735:R674L;ENSP00000440515:R674L;ENSP00000438164:R1088L;ENSP00000417093:R677L;ENSP00000380731:R667L	.	R	-	2	0	PTPRD	8474269	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		PASS	0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			27	77	27	77	---	---	---	---
MTAP	4507	broad.mit.edu	37	9	21837927	21837927	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:21837927C>T	ENST00000460874.2	+	5	644	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MTAP_ENST00000380172.4_Missense_Mutation_p.S123F|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Missense_Mutation_p.S123F					methylthioadenosine phosphorylase									p.0(1)|p.S123F(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		AGACCTCAGTCCTTCTATGAT	0.443																																						uc003zph.2																			3	Whole gene deletion(2)|Substitution - Missense(1)		lung(3)	central_nervous_system(1)	1						c.(367-369)TCC>TTC		5'-methylthioadenosine phosphorylase	Adenine(DB00173)						251.0	254.0	253.0					9																	21837927		2203	4300	6503	SO:0001583	missense	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21837927C>T	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.419C>T	9.37:g.21837927C>T	ENSP00000461932:p.Ser140Phe					MTAP_uc003zpi.1_Intron|MTAP_uc010mit.2_RNA|MTAP_uc011lnk.1_Missense_Mutation_p.S140F|MTAP_uc011lnl.1_Missense_Mutation_p.S56F	p.S123F	NM_002451	NP_002442	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	5	481	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	123						Missense_Mutation	SNP	ENST00000460874.2	37	c.368C>T		.	.	.	.	.	.	.	.	.	.	C	14.85	2.657693	0.47467	.	.	ENSG00000099810	ENST00000380172	T	0.50548	0.74	5.7	5.7	0.88788	Nucleoside phosphorylase domain (1);	0.101040	0.64402	D	0.000002	T	0.49830	0.1580	M	0.66939	2.045	0.35887	D	0.829389	B;B	0.30406	0.278;0.034	B;B	0.24848	0.056;0.031	T	0.60939	-0.7163	10	0.87932	D	0	-9.7405	18.6126	0.91291	0.0:1.0:0.0:0.0	.	140;123	B4DUC8;Q13126	.;MTAP_HUMAN	F	123	ENSP00000369519:S123F	ENSP00000369519:S123F	S	+	2	0	MTAP	21827927	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.608000	0.67654	2.683000	0.91414	0.655000	0.94253	TCC		PASS	0.443	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		13	254	13	254	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32543158	32543158	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:32543158C>A	ENST00000360538.2	-	3	1481	c.1365G>T	c.(1363-1365)acG>acT	p.T455T	TOPORS_ENST00000379858.1_Silent_p.T390T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	455	Interaction with SUMO1.|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)	p.T455T(1)		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)		GTATCTGAGACGTGGCTCCTC	0.403																																						uc003zrb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1363-1365)ACG>ACT		topoisomerase I binding, arginine/serine-rich							145.0	131.0	136.0					9																	32543158		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.chr9:32543158C>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.1365G>T	9.37:g.32543158C>A						TOPORS_uc003zrc.2_Silent_p.T388T	p.T455T	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1532	-			455			Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.1365G>T	CCDS6527.1																																																																																				PASS	0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		21	138	21	138	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32630838	32630838	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:32630838C>A	ENST00000242310.4	-	1	4829	c.4740G>T	c.(4738-4740)aaG>aaT	p.K1580N	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	1580	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K1580N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACTCTGATACTTGTGCTTGG	0.383																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4738-4740)AAG>AAT		TBP-associated factor RNA polymerase 1-like							135.0	132.0	133.0					9																	32630838		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.chr9:32630838C>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.4740G>T	9.37:g.32630838C>A	ENSP00000418379:p.Lys1580Asn					uc003zrh.1_5'Flank	p.K1580N	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4830	-			1580			Bromo 2.		Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4740G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036174	0.54896	.	.	ENSG00000122728	ENST00000242310	T	0.34472	1.36	0.489	0.489	0.16854	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.49640	1.575	0.39930	D	0.974278	D	0.71674	0.998	D	0.63192	0.912	T	0.39603	-0.9606	10	0.62326	D	0.03	.	6.7111	0.23278	0.0:0.9999:0.0:1.0E-4	.	1580	Q8IZX4	TAF1L_HUMAN	N	1580	ENSP00000418379:K1580N	ENSP00000418379:K1580N	K	-	3	2	TAF1L	32620838	1.000000	0.71417	0.991000	0.47740	0.865000	0.49528	0.442000	0.21628	0.514000	0.28300	0.205000	0.17691	AAG		PASS	0.383	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			33	160	33	160	---	---	---	---
ARHGEF39	84904	broad.mit.edu	37	9	35662700	35662700	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:35662700G>T	ENST00000378387.3	-	7	829	c.712C>A	c.(712-714)Cct>Act	p.P238T	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P202T|ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	238	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P238T(1)									CCATGGGGAGGCACCACTAAC	0.607																																						uc003zxm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CCT>ACT		hypothetical protein LOC84904							15.0	16.0	16.0					9																	35662700		2196	4280	6476	SO:0001583	missense	84904				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr9:35662700G>T	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.712C>A	9.37:g.35662700G>T	ENSP00000367638:p.Pro238Thr					C9orf100_uc003zxl.2_RNA	p.P238T	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		7	824	-	all_epithelial(49;0.217)		238			PH.		Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.712C>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843247	0.71488	.	.	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.39229	1.09;1.09	5.94	5.94	0.96194	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44997	-0.9291	10	0.10377	T	0.69	-16.8585	15.8659	0.79063	0.0:0.0:1.0:0.0	.	238	Q8N4T4	CI100_HUMAN	T	238;202	ENSP00000367638:P238T;ENSP00000367648:P202T	ENSP00000367638:P238T	P	-	1	0	C9orf100	35652700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.853000	0.75435	2.820000	0.97059	0.650000	0.86243	CCT		PASS	0.607	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		7	2	7	2	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37541208	37541208	+	Silent	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:37541208T>A	ENST00000432825.2	-	2	606	c.558A>T	c.(556-558)ccA>ccT	p.P186P	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	186					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)	p.P186P(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGAACCAGGCTGGCGTGAAGA	0.537																																						uc004aab.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(556-558)CCA>CCT		F-box protein 10							104.0	106.0	105.0					9																	37541208		2103	4241	6344	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541208T>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.558A>T	9.37:g.37541208T>A						FBXO10_uc004aac.2_Silent_p.P202P|FBXO10_uc004aad.2_Intron	p.P186P	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	607	-			186					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.558A>T	CCDS47966.1																																																																																				PASS	0.537	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			29	91	29	91	---	---	---	---
SLC25A51	92014	broad.mit.edu	37	9	37887804	37887804	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:37887804C>G	ENST00000377716.2	-	3	1487	c.744G>C	c.(742-744)caG>caC	p.Q248H	RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.Q248H|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.Q248H			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	248					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.Q248H(1)									TGGGGAAAGACTGAAATTCCC	0.418																																						uc004aau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(742-744)CAG>CAC		mitochondrial carrier triple repeat 1							29.0	31.0	30.0					9																	37887804		2200	4294	6494	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37887804C>G	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.744G>C	9.37:g.37887804C>G	ENSP00000366945:p.Gln248His					MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.Q248H	p.Q248H	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN		GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)	3	1488	-			248			Solcar 3.			Missense_Mutation	SNP	ENST00000377716.2	37	c.744G>C	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	15.66	2.898820	0.52227	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.79554	-1.28;-1.28;-1.28	4.85	4.85	0.62838	Mitochondrial carrier domain (2);	0.249318	0.33075	N	0.005308	T	0.82079	0.4959	L	0.45352	1.415	0.33890	D	0.637254	B	0.33904	0.431	P	0.49637	0.617	D	0.86728	0.1946	10	0.54805	T	0.06	.	11.0098	0.47657	0.1862:0.8138:0.0:0.0	.	248	Q9H1U9	MCAR1_HUMAN	H	248	ENSP00000369964:Q248H;ENSP00000366945:Q248H;ENSP00000242275:Q248H	ENSP00000242275:Q248H	Q	-	3	2	MCART1	37877804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.714000	0.37961	2.415000	0.81967	0.585000	0.79938	CAG		PASS	0.418	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		11	68	11	68	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72091005	72091005	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:72091005G>C	ENST00000265381.4	-	3	1477	c.1255C>G	c.(1255-1257)Ctt>Gtt	p.L419V	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	419	LIN-2/CASK binding.|Pro-rich.				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)	p.L419V(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGGGTGAAGAGATGTGCTT	0.498																																						uc004ahh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1255-1257)CTT>GTT		amyloid beta A4 precursor protein-binding,							96.0	87.0	90.0					9																	72091005		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.chr9:72091005G>C	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.1255C>G	9.37:g.72091005G>C	ENSP00000265381:p.Leu419Val						p.L419V	NM_001163	NP_001154	Q02410	APBA1_HUMAN			3	1531	-			419			LIN-2/CASK binding.|Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1255C>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833329	0.16820	.	.	ENSG00000107282	ENST00000265381	T	0.04119	3.7	5.63	5.63	0.86233	.	0.311919	0.31589	N	0.007398	T	0.04952	0.0133	L	0.29908	0.895	0.27663	N	0.947004	B	0.09022	0.002	B	0.14023	0.01	T	0.33752	-0.9856	10	0.21540	T	0.41	.	14.5162	0.67821	0.0:0.0:0.8534:0.1466	.	419	Q02410	APBA1_HUMAN	V	419	ENSP00000265381:L419V	ENSP00000265381:L419V	L	-	1	0	APBA1	71280825	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	2.680000	0.46918	2.657000	0.90304	0.561000	0.74099	CTT		PASS	0.498	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	55	8	55	---	---	---	---
TLE4	7091	broad.mit.edu	37	9	82323125	82323125	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:82323125G>A	ENST00000376552.2	+	12	2047	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L	TLE4_ENST00000376520.4_Silent_p.L375L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Silent_p.L318L|TLE4_ENST00000376544.3_Silent_p.L274L|TLE4_ENST00000376537.4_Silent_p.L375L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	343					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.L375L(1)|p.L343L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCCGGATTGAGGCCTGTAC	0.418																																						uc004ald.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1102-1104)TTG>TTA		transducin-like enhancer protein 4							79.0	73.0	75.0					9																	82323125		1846	4088	5934	SO:0001819	synonymous_variant	7091							g.chr9:82323125G>A	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.1029G>A	9.37:g.82323125G>A						TLE4_uc004alc.2_Silent_p.L343L|TLE4_uc010mpr.2_Silent_p.L222L|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.L311L|TLE4_uc010mps.2_Silent_p.L267L|TLE4_uc004alf.2_Silent_p.L282L	p.L368L	NM_007005	NP_008936	O60756	BCE1_HUMAN			13	1953	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.1104G>A	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271896	0.23221	.	.	ENSG00000106829	ENST00000496114	.	.	.	6.17	2.17	0.27698	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47497	-0.9113	4	.	.	.	-12.7517	6.2303	0.20732	0.1045:0.1123:0.6675:0.1157	.	.	.	.	K	134	.	.	E	+	1	0	TLE4	81512945	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	1.370000	0.34238	0.871000	0.35750	0.655000	0.94253	GAG		PASS	0.418	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		15	141	15	141	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97842985	97842985	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:97842985C>T	ENST00000375315.2	+	14	2242	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	C9orf3_ENST00000297979.5_Missense_Mutation_p.R649W|C9orf3_ENST00000433691.2_Missense_Mutation_p.R89W|C9orf3_ENST00000425634.2_Missense_Mutation_p.R110W	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	748					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)	p.R649W(1)|p.R748W(1)		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)		GGTTCGCCATCGGTGGTGTGA	0.542																																						uc004ava.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2242-2244)CGG>TGG		aminopeptidase O							151.0	132.0	138.0					9																	97842985		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97842985C>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.2242C>T	9.37:g.97842985C>T	ENSP00000364464:p.Arg748Trp					C9orf3_uc004auy.2_Missense_Mutation_p.R649W|C9orf3_uc004auz.1_Missense_Mutation_p.R649W|C9orf3_uc004avc.2_Missense_Mutation_p.R203W|C9orf3_uc011luj.1_Missense_Mutation_p.R110W|C9orf3_uc011luk.1_Missense_Mutation_p.R89W|C9orf3_uc004avd.2_Missense_Mutation_p.R110W	p.R748W	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2377	+			748					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2242C>T	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.52|17.52	3.411304|3.411304	0.62399|0.62399	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.55234|.	0.53;0.53;0.53;0.53;0.53;0.53|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.057993|.	0.64402|.	D|.	0.000002|.	T|T	0.73148|0.73148	0.3550|0.3550	M|M	0.71581|0.71581	2.175|2.175	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;1.0;1.0;0.998;1.0|.	T|T	0.72704|0.72704	-0.4213|-0.4213	10|5	0.87932|.	D|.	0|.	-16.6157|-16.6157	14.4009|14.4009	0.67044|0.67044	0.1476:0.8524:0.0:0.0|0.1476:0.8524:0.0:0.0	.|.	89;110;748;649;649|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	W|L	649;748;472;530;110;89;112|112	ENSP00000297979:R649W;ENSP00000364464:R748W;ENSP00000402171:R472W;ENSP00000401854:R530W;ENSP00000411815:R110W;ENSP00000399365:R89W|.	ENSP00000297979:R649W|.	R|S	+|+	1|2	2|0	C9orf3|C9orf3	96882806|96882806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.175000|0.175000	0.22909|0.22909	5.488000|5.488000	0.66869|0.66869	2.614000|2.614000	0.88457|0.88457	0.555000|0.555000	0.69702|0.69702	CGG|TCG		PASS	0.542	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		15	149	15	149	---	---	---	---
ANKS6	203286	broad.mit.edu	37	9	101530382	101530382	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:101530382C>G	ENST00000353234.4	-	11	2170	c.2123G>C	c.(2122-2124)gGc>gCc	p.G708A	ANKS6_ENST00000540940.1_Missense_Mutation_p.G513A|ANKS6_ENST00000375018.1_Missense_Mutation_p.G708A|ANKS6_ENST00000375019.2_Missense_Mutation_p.G407A			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	708	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)		p.G708A(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGAGCGCTGCCACCTGCAGG	0.607																																						uc004ayu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2122-2124)GGC>GCC		ankyrin repeat and sterile alpha motif domain							30.0	37.0	35.0					9																	101530382		2157	4256	6413	SO:0001583	missense	203286							g.chr9:101530382C>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.2123G>C	9.37:g.101530382C>G	ENSP00000297837:p.Gly708Ala					ANKS6_uc004ayt.2_Missense_Mutation_p.G407A|ANKS6_uc004ayv.1_Missense_Mutation_p.G170A|ANKS6_uc004ayw.1_Missense_Mutation_p.G290A|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.G708A	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			11	2144	-		Acute lymphoblastic leukemia(62;0.0527)	708			Ser-rich.		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.2123G>C	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.30|11.30	1.597932|1.597932	0.28445|0.28445	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.68331|.	1.94;-0.32;-0.24;2.2|.	5.79|5.79	3.89|3.89	0.44902|0.44902	.|.	0.584383|.	0.20062|.	N|.	0.100072|.	T|T	0.44074|0.44074	0.1276|0.1276	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.18166|.	0.001;0.026|.	B;B|.	0.18561|.	0.006;0.022|.	T|T	0.25710|0.25710	-1.0124|-1.0124	10|5	0.08599|.	T|.	0.76|.	-4.0703|-4.0703	12.7241|12.7241	0.57159|0.57159	0.0:0.6827:0.3173:0.0|0.0:0.6827:0.3173:0.0	.|.	708;708|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	A|C	407;708;708;513|176	ENSP00000364159:G407A;ENSP00000364158:G708A;ENSP00000297837:G708A;ENSP00000442189:G513A|.	ENSP00000297837:G708A|.	G|W	-|-	2|3	0|0	ANKS6|ANKS6	100570203|100570203	0.001000|0.001000	0.12720|0.12720	0.013000|0.013000	0.15412|0.15412	0.423000|0.423000	0.31445|0.31445	1.474000|1.474000	0.35398|0.35398	0.753000|0.753000	0.32945|0.32945	0.561000|0.561000	0.74099|0.74099	GGC|TGG		PASS	0.607	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		14	26	14	26	---	---	---	---
TEX10	54881	broad.mit.edu	37	9	103090163	103090163	+	Silent	SNP	G	G	C	rs145080863		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:103090163G>C	ENST00000374902.4	-	8	1883	c.1707C>G	c.(1705-1707)ctC>ctG	p.L569L	TEX10_ENST00000535814.1_Silent_p.L572L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	569						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.L569L(1)		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)		GCTGTGTAGAGAGCTCAGGAT	0.428																																						uc004bas.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1705-1707)CTC>CTG		testis expressed 10 isoform 1		G	,	0,4406		0,0,2203	110.0	95.0	100.0		1716,1707	-7.9	0.3	9	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TEX10	NM_001161584.1,NM_017746.3	,	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	,	572/914,569/930	103090163	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103090163G>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.1707C>G	9.37:g.103090163G>C						TEX10_uc011lvf.1_Silent_p.L408L|TEX10_uc011lvg.1_Silent_p.L572L	p.L569L	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	8	1922	-		Acute lymphoblastic leukemia(62;0.0527)	569					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	c.1707C>G	CCDS6748.1																																																																																				PASS	0.428	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	54	9	54	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106877046	106877046	+	Missense_Mutation	SNP	C	C	T	rs370728212		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:106877046C>T	ENST00000286398.7	+	13	1895	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	SMC2_ENST00000303219.8_Missense_Mutation_p.S536F|SMC2_ENST00000374793.3_Missense_Mutation_p.S536F|SMC2_ENST00000374787.3_Missense_Mutation_p.S536F	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	536	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)	p.S536F(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAAGACACTTCTGCAACCACA	0.338																																						uc004bbv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(1606-1608)TCT>TTT		structural maintenance of chromosomes 2							101.0	100.0	100.0					9																	106877046		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.chr9:106877046C>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.1607C>T	9.37:g.106877046C>T	ENSP00000286398:p.Ser536Phe					SMC2_uc004bbu.1_Missense_Mutation_p.S536F|SMC2_uc004bbw.2_Missense_Mutation_p.S536F|SMC2_uc011lvl.1_Missense_Mutation_p.S536F|SMC2_uc004bbx.2_Missense_Mutation_p.S536F	p.S536F	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			13	1895	+			536			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1607C>T	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009896	0.93346	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.45	5.45	0.79879	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.69078	0.985;0.997	D;D	0.66196	0.913;0.942	D	0.93547	0.6883	10	0.66056	D	0.02	-12.6026	18.0288	0.89277	0.0:1.0:0.0:0.0	.	536;536	O95347;Q2KQ72	SMC2_HUMAN;.	F	536	ENSP00000286398:S536F;ENSP00000363925:S536F;ENSP00000306152:S536F;ENSP00000363919:S536F	ENSP00000286398:S536F	S	+	2	0	SMC2	105916867	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.498000	0.66931	2.836000	0.97738	0.655000	0.94253	TCT		PASS	0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			7	93	7	93	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106889003	106889003	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:106889003G>C	ENST00000286398.7	+	19	2821	c.2533G>C	c.(2533-2535)Gaa>Caa	p.E845Q	SMC2_ENST00000303219.8_Missense_Mutation_p.E845Q|SMC2_ENST00000374793.3_Missense_Mutation_p.E845Q|SMC2_ENST00000374787.3_Missense_Mutation_p.E845Q	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	845					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E845Q(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGTAAATGAAGCTATCAA	0.348																																						uc004bbv.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(2533-2535)GAA>CAA		structural maintenance of chromosomes 2							86.0	87.0	87.0					9																	106889003		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.chr9:106889003G>C	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.2533G>C	9.37:g.106889003G>C	ENSP00000286398:p.Glu845Gln					SMC2_uc004bbw.2_Missense_Mutation_p.E845Q|SMC2_uc011lvl.1_Missense_Mutation_p.E845Q|SMC2_uc004bbx.2_Missense_Mutation_p.E845Q|SMC2_uc004bby.2_5'Flank	p.E845Q	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			19	2821	+			845			Potential.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2533G>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787587	0.49997	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.97	4.97	0.65823	.	0.052806	0.85682	D	0.000000	T	0.68906	0.3052	N	0.20766	0.605	0.53005	D	0.99996	B	0.23128	0.08	B	0.32090	0.14	T	0.64765	-0.6330	10	0.33141	T	0.24	-21.9095	17.1717	0.86832	0.0:0.0:1.0:0.0	.	845	O95347	SMC2_HUMAN	Q	845	ENSP00000286398:E845Q;ENSP00000363925:E845Q;ENSP00000306152:E845Q;ENSP00000363919:E845Q	ENSP00000286398:E845Q	E	+	1	0	SMC2	105928824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.818000	0.62657	2.453000	0.82957	0.484000	0.47621	GAA		PASS	0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			13	67	13	67	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114131428	114131428	+	Missense_Mutation	SNP	C	C	T	rs145249965	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:114131428C>T	ENST00000338205.5	-	45	5219	c.5000G>A	c.(4999-5001)cGg>cAg	p.R1667Q	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1845Q|KIAA0368_ENST00000465499.1_5'UTR			Q5VYK3	ECM29_HUMAN	KIAA0368	1673					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)		p.R1845Q(1)		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						TTTGGTTGTCCGGACCCCACT	0.418													C|||	7	0.00139776	0.0045	0.0	5008	,	,		16931	0.0		0.0	False		,,,				2504	0.001					uc004bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(5533-5535)CGG>CAG		KIAA0368 protein		C	GLN/ARG	15,3613		0,15,1799	101.0	91.0	94.0		5534	1.6	0.0	9	dbSNP_134	94	0,8152		0,0,4076	yes	missense	KIAA0368	NM_001080398.1	43	0,15,5875	TT,TC,CC		0.0,0.4135,0.1273	benign	1845/2018	114131428	15,11765	1814	4076	5890	SO:0001583	missense	23392							g.chr9:114131428C>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.5000G>A	9.37:g.114131428C>T	ENSP00000339889:p.Arg1667Gln						p.R1845Q	NM_001080398	NP_001073867					47	5534	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.5534G>A		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	6.974	0.549670	0.13374	0.004135	0.0	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.65732	-0.17	5.67	1.62	0.23740	.	0.316149	0.31290	N	0.007902	T	0.39384	0.1076	L	0.44542	1.39	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.24333	-1.0163	10	0.15499	T	0.54	.	9.0849	0.36574	0.0:0.5644:0.0954:0.3402	.	1142	B3KXF2	.	Q	1667;1845;1142	ENSP00000259335:R1845Q	ENSP00000259335:R1845Q	R	-	2	0	KIAA0368	113171249	0.167000	0.22975	0.006000	0.13384	0.645000	0.38454	1.039000	0.30266	-0.143000	0.11334	-0.797000	0.03246	CGG		PASS	0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		8	79	8	79	---	---	---	---
SUSD1	64420	broad.mit.edu	37	9	114873987	114873987	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:114873987G>C	ENST00000374270.3	-	8	1290	c.1118C>G	c.(1117-1119)tCc>tGc	p.S373C	SUSD1_ENST00000374264.2_Missense_Mutation_p.S373C|SUSD1_ENST00000374263.3_Missense_Mutation_p.S373C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	373						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S373C(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTGCTGTGGAGATGTTCAC	0.547																																						uc004bfu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)TCC>TGC		sushi domain containing 1 precursor							240.0	199.0	213.0					9																	114873987		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114873987G>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.1118C>G	9.37:g.114873987G>C	ENSP00000363388:p.Ser373Cys					SUSD1_uc010mui.2_Missense_Mutation_p.S373C|SUSD1_uc010muj.2_Missense_Mutation_p.S373C	p.S373C	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			8	1159	-			373			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1118C>G	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.29|13.29	2.192346|2.192346	0.38707|0.38707	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.74947	.|-0.81;-0.83;-0.89	5.6|5.6	3.66|3.66	0.41972|0.41972	.|.	.|0.662303	.|0.13406	.|N	.|0.390251	D|D	0.82655|0.82655	0.5084|0.5084	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;P	.|0.68353	.|0.957;0.957;0.907	T|T	0.70234|0.70234	-0.4928|-0.4928	5|10	.|0.54805	.|T	.|0.06	-10.5267|-10.5267	8.5217|8.5217	0.33279|0.33279	0.086:0.1542:0.7598:0.0|0.086:0.1542:0.7598:0.0	.|.	.|373;373;373	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	A|C	187|373	.|ENSP00000363388:S373C;ENSP00000363381:S373C;ENSP00000363382:S373C	.|ENSP00000363381:S373C	P|S	-|-	1|2	0|0	SUSD1|SUSD1	113913808|113913808	0.030000|0.030000	0.19436|0.19436	0.509000|0.509000	0.27700|0.27700	0.361000|0.361000	0.29550|0.29550	1.716000|1.716000	0.37981|0.37981	1.495000|1.495000	0.48549|0.48549	0.650000|0.650000	0.86243|0.86243	CCA|TCC		PASS	0.547	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		12	136	12	136	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	122075482	122075482	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:122075482G>T	ENST00000265922.3	-	2	613	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	BRINP1_ENST00000373964.2_Missense_Mutation_p.S51Y	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	51					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)		p.S51Y(1)									GTAGCTCCTGGAGTGGTGGAA	0.483																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(151-153)TCC>TAC		deleted in bladder cancer 1 precursor							99.0	96.0	97.0					9																	122075482		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075482G>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.152C>A	9.37:g.122075482G>T	ENSP00000265922:p.Ser51Tyr					DBC1_uc004bkd.2_Missense_Mutation_p.S51Y	p.S51Y	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	608	-			51					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.152C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299644	0.60195	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.86865	-2.18;-2.18	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	L	0.55990	1.75	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.77557	0.983;0.99	D	0.92846	0.6293	10	0.87932	D	0	-20.1299	18.859	0.92265	0.0:0.0:1.0:0.0	.	51;51	O60477-2;O60477	.;DBC1_HUMAN	Y	51	ENSP00000265922:S51Y;ENSP00000363075:S51Y	ENSP00000265922:S51Y	S	-	2	0	DBC1	121115303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.473000	0.83533	0.561000	0.74099	TCC		PASS	0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		17	113	17	113	---	---	---	---
MRRF	92399	broad.mit.edu	37	9	125054075	125054075	+	Silent	SNP	G	G	C	rs370486271		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:125054075G>C	ENST00000344641.3	+	5	818	c.507G>C	c.(505-507)ctG>ctC	p.L169L	MRRF_ENST00000297908.3_Silent_p.L117L|MRRF_ENST00000373729.1_Silent_p.L125L|MRRF_ENST00000394315.3_Silent_p.L169L|MRRF_ENST00000373723.5_Silent_p.L169L	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	169					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.L169L(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						GAATGAATCTGAACCCAGAAG	0.408																																						uc004bmb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(505-507)CTG>CTC		mitochondrial ribosome recycling factor isoform							157.0	154.0	155.0					9																	125054075		2203	4300	6503	SO:0001819	synonymous_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125054075G>C	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.507G>C	9.37:g.125054075G>C						MRRF_uc004bmc.2_Silent_p.L169L|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Silent_p.L169L|MRRF_uc011lyr.1_Silent_p.L117L|MRRF_uc004bmd.2_Silent_p.L169L|MRRF_uc004bme.2_RNA	p.L169L	NM_138777	NP_620132	Q96E11	RRFM_HUMAN			5	622	+			169					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Silent	SNP	ENST00000344641.3	37	c.507G>C	CCDS6840.1																																																																																				PASS	0.408	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		18	168	18	168	---	---	---	---
PBX3	5090	broad.mit.edu	37	9	128509835	128509835	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:128509835G>A	ENST00000373489.5	+	1	119	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PBX3_ENST00000342287.5_Missense_Mutation_p.E35K|PBX3_ENST00000447726.2_5'Flank|RP11-423C15.3_ENST00000606827.1_lincRNA|PBX3_ENST00000373483.2_5'UTR|PBX3_ENST00000373487.4_Missense_Mutation_p.E35K	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	35					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)	p.E35K(1)		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						GCACGGCCACGAAGGGGCGGA	0.662																																						uc004bqb.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(103-105)GAA>AAA		pre-B-cell leukemia homeobox 3 isoform 1							49.0	44.0	45.0					9																	128509835		2203	4299	6502	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128509835G>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.103G>A	9.37:g.128509835G>A	ENSP00000362588:p.Glu35Lys					PBX3_uc004bqc.2_5'UTR|PBX3_uc004bqd.2_5'UTR|PBX3_uc011lzw.1_5'Flank	p.E35K	NM_006195	NP_006186	P40426	PBX3_HUMAN			1	219	+			35					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.103G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750185	0.30955	.	.	ENSG00000167081	ENST00000373489;ENST00000342287;ENST00000373487	D;D;T	0.86769	-2.17;-2.16;1.91	2.3	2.3	0.28687	.	0.314743	0.28252	N	0.016032	T	0.70745	0.3259	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.64330	-0.6433	10	0.07175	T	0.84	.	13.6741	0.62443	0.0:0.0:1.0:0.0	.	35	P40426	PBX3_HUMAN	K	35	ENSP00000362588:E35K;ENSP00000341990:E35K;ENSP00000362586:E35K	ENSP00000341990:E35K	E	+	1	0	PBX3	127549656	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.322000	0.65852	1.589000	0.49982	0.491000	0.48974	GAA		PASS	0.662	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			9	32	9	32	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131768572	131768572	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:131768572G>A	ENST00000372577.2	+	43	5019	c.4998G>A	c.(4996-4998)gcG>gcA	p.A1666A	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1666					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)		p.A1666A(1)		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						TCTCTCAGGCGATGCGGTACC	0.572											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bws.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(4996-4998)GCG>GCA		nucleoporin 188kDa							123.0	123.0	123.0					9																	131768572		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.chr9:131768572G>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.4998G>A	9.37:g.131768572G>A			OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590		p.A1666A	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			43	5020	+			1666					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.4998G>A	CCDS35156.1																																																																																				PASS	0.572	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			9	243	9	243	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642704	137642704	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:137642704G>A	ENST00000371817.3	+	13	2052	c.1638G>A	c.(1636-1638)gcG>gcA	p.A546A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	546	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)	p.A546A(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)		AGTCCCAGGCGCAAGCCATTC	0.632																																						uc004cfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1636-1638)GCG>GCA		alpha 1 type V collagen preproprotein							27.0	28.0	28.0					9																	137642704		2203	4299	6502	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.chr9:137642704G>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.1638G>A	9.37:g.137642704G>A							p.A546A	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	2020	+		Myeloproliferative disorder(178;0.0341)	546			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1638G>A	CCDS6982.1																																																																																				PASS	0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	21	8	21	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139115921	139115921	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:139115921C>A	ENST00000358701.5	-	4	553	c.516G>T	c.(514-516)atG>atT	p.M172I		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	172	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)	p.M172I(1)		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)		GGAAGTCAATCATCGTCTGTC	0.617																																						uc010nbi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)ATG>ATT		quiescin Q6 sulfhydryl oxidase 2 precursor							124.0	109.0	114.0					9																	139115921		2203	4300	6503	SO:0001583	missense	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139115921C>A	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.516G>T	9.37:g.139115921C>A	ENSP00000351536:p.Met172Ile						p.M172I	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	4	554	-		Myeloproliferative disorder(178;0.0511)	172			Thioredoxin.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	ENST00000358701.5	37	c.516G>T	CCDS35178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.65|11.65	1.700954|1.700954	0.30142|0.30142	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000455222|ENST00000358701;ENST00000389471	.|T	.|0.67698	.|-0.28	5.18|5.18	5.18|5.18	0.71444|0.71444	.|Thioredoxin-like fold (2);	.|0.043794	.|0.85682	.|D	.|0.000000	T|T	0.58566|0.58566	0.2131|0.2131	N|N	0.20357|0.20357	0.565|0.565	0.54753|0.54753	D|D	0.999988|0.999988	.|P	.|0.42375	.|0.778	.|P	.|0.49332	.|0.607	T|T	0.53301|0.53301	-0.8458|-0.8458	5|10	.|0.16420	.|T	.|0.52	-45.1021|-45.1021	12.7405|12.7405	0.57251|0.57251	0.1642:0.8358:0.0:0.0|0.1642:0.8358:0.0:0.0	.|.	.|172	.|Q6ZRP7	.|QSOX2_HUMAN	Y|I	19|172;50	.|ENSP00000351536:M172I	.|ENSP00000351536:M172I	D|M	-|-	1|3	0|0	QSOX2|QSOX2	138255742|138255742	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.511000|0.511000	0.34104|0.34104	4.957000|4.957000	0.63652|0.63652	2.419000|2.419000	0.82065|0.82065	0.467000|0.467000	0.42956|0.42956	GAT|ATG		PASS	0.617	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		20	101	20	101	---	---	---	---
LCN8	138307	broad.mit.edu	37	9	139651029	139651029	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:139651029C>G	ENST00000371688.3	-	3	466	c.171G>C	c.(169-171)gaG>gaC	p.E57D	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	80					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)		p.E57D(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TCTTCTCTATCTCACAGCTTC	0.547																																						uc004cjb.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(169-171)GAG>GAC		lipocalin 8							176.0	161.0	166.0					9																	139651029		2203	4300	6503	SO:0001583	missense	138307				transport	extracellular region	binding	g.chr9:139651029C>G	AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.171G>C	9.37:g.139651029C>G	ENSP00000360753:p.Glu57Asp					LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.E57D	p.E57D	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)	3	520	-	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	80					A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	c.171G>C	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	C	4.232	0.041930	0.08196	.	.	ENSG00000204001	ENST00000371688	T	0.09445	2.98	3.32	3.32	0.38043	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.08802	0.0218	L	0.47716	1.5	0.09310	N	1	P;B	0.47841	0.901;0.358	B;B	0.38156	0.266;0.107	T	0.13124	-1.0521	9	0.11794	T	0.64	.	10.405	0.44252	0.0:1.0:0.0:0.0	.	80;57	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	D	57	ENSP00000360753:E57D	ENSP00000360753:E57D	E	-	3	2	LCN8	138770850	0.012000	0.17670	0.183000	0.23137	0.460000	0.32559	0.859000	0.27858	2.180000	0.69256	0.491000	0.48974	GAG		PASS	0.547	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469		18	121	18	121	---	---	---	---
TPRN	286262	broad.mit.edu	37	9	140093946	140093946	+	Silent	SNP	G	G	T	rs543888482		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:140093946G>T	ENST00000409012.4	-	1	1304	c.1218C>A	c.(1216-1218)ctC>ctA	p.L406L	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.L345L	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	406					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.L100L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCCGGTCAGCGAGGGCGGTGG	0.697																																						uc004clt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1033-1035)CTC>CTA		hypothetical protein LOC286262 isoform 2							9.0	11.0	10.0					9																	140093946		2171	4278	6449	SO:0001819	synonymous_variant	286262				sensory perception of sound	stereocilium		g.chr9:140093946G>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1218C>A	9.37:g.140093946G>T						TPRN_uc004clu.2_Silent_p.L345L	p.L345L	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN			1	1035	-			406					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	c.1035C>A	CCDS56594.1																																																																																				PASS	0.697	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		4	16	4	16	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140967951	140967951	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:140967951C>G	ENST00000371372.1	+	33	4831	c.4686C>G	c.(4684-4686)atC>atG	p.I1562M	CACNA1B_ENST00000371355.4_Missense_Mutation_p.I1563M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.I1561M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I1562M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.I756M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I1560M|CACNA1B_ENST00000371365.2_5'Flank	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1562					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.I1562M(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)	ACAATTTCATCAACCTCAGCT	0.567																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(4684-4686)ATC>ATG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						66.0	72.0	70.0					9																	140967951		2071	4214	6285	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.chr9:140967951C>G	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.4686C>G	9.37:g.140967951C>G	ENSP00000360423:p.Ile1562Met					CACNA1B_uc004coi.2_Missense_Mutation_p.I774M|CACNA1B_uc004cok.1_5'Flank|CACNA1B_uc010ncp.1_5'Flank	p.I1562M	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	32	4831	+	all_cancers(76;0.166)		1562			Extracellular (Potential).|IV.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4686C>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127813	0.77549	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.98286	0.9432	M	0.73753	2.245	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.75020	0.985;0.985	D	0.99461	1.0943	10	0.87932	D	0	.	18.8839	0.92367	0.0:1.0:0.0:0.0	.	1561;1560	B1AQK7;B1AQK6	.;.	M	1562;1562;756;1560;1561;1563	ENSP00000360423:I1562M;ENSP00000277551:I1562M;ENSP00000277549:I756M;ENSP00000360414:I1560M;ENSP00000360408:I1561M;ENSP00000360406:I1563M	ENSP00000277549:I756M	I	+	3	3	CACNA1B	140087772	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.917000	0.39996	2.467000	0.83353	0.561000	0.74099	ATC		PASS	0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		10	141	10	141	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	141010056	141010056	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr9:141010056A>C	ENST00000371372.1	+	42	5847	c.5702A>C	c.(5701-5703)cAg>cCg	p.Q1901P	CACNA1B_ENST00000371355.4_Missense_Mutation_p.Q1902P|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Q1900P|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Q1901P|CACNA1B_ENST00000277549.5_Missense_Mutation_p.Q1095P|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Q1899P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1901					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.Q1901P(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)	GAGCAGACACAGCCGGCTGTG	0.587																																						uc004cog.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(5701-5703)CAG>CCG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						111.0	113.0	112.0					9																	141010056		1969	4150	6119	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.chr9:141010056A>C	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.5702A>C	9.37:g.141010056A>C	ENSP00000360423:p.Gln1901Pro					CACNA1B_uc004coi.2_Missense_Mutation_p.Q1113P	p.Q1901P	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	5847	+	all_cancers(76;0.166)		1901			Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.5702A>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554343	0.45487	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97066	-4.01;-4.02;-4.23;-4.0;-3.99;-3.99	4.71	4.71	0.59529	.	3.464660	0.01010	N	0.003800	D	0.95837	0.8645	L	0.43152	1.355	0.53688	D	0.99997	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.77003	-0.2749	10	0.45353	T	0.12	.	13.2079	0.59807	1.0:0.0:0.0:0.0	.	1900;1899	B1AQK7;B1AQK6	.;.	P	1901;1901;1095;1899;1900;1902	ENSP00000360423:Q1901P;ENSP00000277551:Q1901P;ENSP00000277549:Q1095P;ENSP00000360414:Q1899P;ENSP00000360408:Q1900P;ENSP00000360406:Q1902P	ENSP00000277549:Q1095P	Q	+	2	0	CACNA1B	140129877	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	5.153000	0.64888	2.101000	0.63845	0.533000	0.62120	CAG		PASS	0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		49	109	49	109	---	---	---	---
ANKRD16	54522	broad.mit.edu	37	10	5929903	5929903	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:5929903C>T	ENST00000380094.5	-	2	985	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	FBXO18_ENST00000397269.3_5'Flank|ANKRD16_ENST00000380092.4_Missense_Mutation_p.G148S|FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000191063.8_Missense_Mutation_p.G148S	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	148								p.G148S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGAGGGTCGCCTTCTCGACTG	0.537																																						uc010qat.1																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)GGC>AGC		ankyrin repeat domain 16 isoform a							140.0	126.0	130.0					10																	5929903		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929903C>T	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.442G>A	10.37:g.5929903C>T	ENSP00000369436:p.Gly148Ser					ANKRD16_uc009xie.2_Missense_Mutation_p.G148S|ANKRD16_uc009xif.2_Missense_Mutation_p.G148S|ANKRD16_uc001iiq.2_Missense_Mutation_p.G148S|FBXO18_uc001iir.2_5'Flank|FBXO18_uc001iis.2_5'Flank|FBXO18_uc009xig.2_5'Flank	p.G148S	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			2	985	-			148			ANK 4.		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.442G>A	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672892	0.88445	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.76709	-0.69;-0.69;-1.04	4.85	3.9	0.45041	Ankyrin repeat-containing domain (4);	0.051287	0.85682	N	0.000000	D	0.87811	0.6271	M	0.85945	2.785	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.989	D	0.88774	0.3266	10	0.72032	D	0.01	-15.1272	11.6879	0.51497	0.0:0.9066:0.0:0.0934	.	148;148;148	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	S	148	ENSP00000369436:G148S;ENSP00000369434:G148S;ENSP00000352361:G148S	ENSP00000352361:G148S	G	-	1	0	ANKRD16	5969909	1.000000	0.71417	0.674000	0.29902	0.990000	0.78478	5.710000	0.68392	1.104000	0.41587	0.558000	0.71614	GGC		PASS	0.537	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		11	69	11	69	---	---	---	---
RBM17	84991	broad.mit.edu	37	10	6155486	6155486	+	Nonsense_Mutation	SNP	C	C	G	rs372269055		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:6155486C>G	ENST00000446108.1	+	9	1516	c.872C>G	c.(871-873)tCa>tGa	p.S291*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.S291*|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	291					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)	p.S291*(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCCAAGAAGTCAGATTCAAAT	0.393																																						uc001ijb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(871-873)TCA>TGA		RNA binding motif protein 17							134.0	137.0	136.0					10																	6155486		2203	4300	6503	SO:0001587	stop_gained	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6155486C>G	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.872C>G	10.37:g.6155486C>G	ENSP00000388638:p.Ser291*					RBM17_uc010qav.1_Nonsense_Mutation_p.S291*|RBM17_uc001ijc.2_5'Flank	p.S291*	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			9	1098	+			291					Q96GY6	Nonsense_Mutation	SNP	ENST00000446108.1	37	c.872C>G	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	40	8.279709	0.98740	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	5.6	5.6	0.85130	.	0.232795	0.45361	D	0.000376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-8.8237	19.5911	0.95511	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000369218:S291X	S	+	2	0	RBM17	6195492	0.996000	0.38824	0.997000	0.53966	0.963000	0.63663	4.080000	0.57620	2.633000	0.89246	0.561000	0.74099	TCA		PASS	0.393	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		18	137	18	137	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7762923	7762923	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:7762923G>A	ENST00000358415.4	+	7	901	c.735G>A	c.(733-735)caG>caA	p.Q245Q	ITIH2_ENST00000379587.4_Silent_p.Q234Q	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	245					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.Q245Q(1)		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						AAGGACAACAGAAGGTACCCT	0.502																																						uc001ijs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(733-735)CAG>CAA		inter-alpha globulin inhibitor H2 polypeptide							137.0	113.0	121.0					10																	7762923		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7762923G>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.735G>A	10.37:g.7762923G>A							p.Q245Q	NM_002216	NP_002207	P19823	ITIH2_HUMAN			7	897	+			245					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.735G>A	CCDS31141.1																																																																																				PASS	0.502	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		11	67	11	67	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27368049	27368049	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:27368049G>T	ENST00000376087.4	-	7	947	c.782C>A	c.(781-783)tCa>tAa	p.S261*	ANKRD26_ENST00000436985.2_Nonsense_Mutation_p.S310*|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	261					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)		p.S261*(1)		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						TTCGTCATCTGAGGTAGGCCA	0.318																																						uc001ith.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(781-783)TCA>TAA		ankyrin repeat domain 26							104.0	97.0	99.0					10																	27368049		1837	4090	5927	SO:0001587	stop_gained	22852					centrosome		g.chr10:27368049G>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.782C>A	10.37:g.27368049G>T	ENSP00000365255:p.Ser261*					ANKRD26_uc001itg.2_5'UTR|ANKRD26_uc009xku.1_Nonsense_Mutation_p.S261*	p.S261*	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			7	954	-			261					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonsense_Mutation	SNP	ENST00000376087.4	37	c.782C>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474972	0.84640	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	.	.	.	5.22	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4684	0.32971	0.187:0.0:0.813:0.0	.	.	.	.	X	261;310	.	ENSP00000365255:S261X	S	-	2	0	ANKRD26	27408055	0.472000	0.25870	0.001000	0.08648	0.009000	0.06853	3.231000	0.51294	1.213000	0.43380	0.591000	0.81541	TCA		PASS	0.318	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			11	100	11	100	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30318354	30318354	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:30318354C>T	ENST00000375377.1	-	3	824	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	241					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.L241L(1)		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						CCGTGCAACTCAGGCTCTCGG	0.453																																						uc001iux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(721-723)CTG>CTA		hypothetical protein LOC57608							142.0	144.0	144.0					10																	30318354		1960	4144	6104	SO:0001819	synonymous_variant	57608							g.chr10:30318354C>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.723G>A	10.37:g.30318354C>T						KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.L103L|KIAA1462_uc009xle.1_Silent_p.L241L	p.L241L	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	782	-			241					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.723G>A	CCDS41500.1																																																																																				PASS	0.453	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		31	119	31	119	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50820179	50820179	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:50820179G>T	ENST00000374115.3	+	1	1833	c.1393G>T	c.(1393-1395)Gtc>Ttc	p.V465F	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	465					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.V465F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTATGCTCCCGTCTTGCTGCT	0.642																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1393-1395)GTC>TTC		vesicular acetylcholine transporter							72.0	51.0	58.0					10																	50820179		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.chr10:50820179G>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.1393G>T	10.37:g.50820179G>T	ENSP00000363229:p.Val465Phe					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.V465F	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1833	+			465			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1393G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371703	0.61624	.	.	ENSG00000187714	ENST00000374115	T	0.81078	-1.45	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.067100	0.64402	U	0.000013	D	0.87645	0.6229	M	0.69358	2.11	0.38267	D	0.942035	D	0.63046	0.992	P	0.60068	0.868	D	0.89983	0.4102	10	0.66056	D	0.02	-37.9112	18.5339	0.91002	0.0:0.0:1.0:0.0	.	465	Q16572	VACHT_HUMAN	F	465	ENSP00000363229:V465F	ENSP00000363229:V465F	V	+	1	0	SLC18A3	50490185	1.000000	0.71417	0.844000	0.33320	0.325000	0.28411	4.226000	0.58606	2.380000	0.81148	0.561000	0.74099	GTC		PASS	0.642	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		32	38	32	38	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60154126	60154126	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:60154126G>A	ENST00000487519.1	+	6	1072	c.546G>A	c.(544-546)ctG>ctA	p.L182L	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.L150L	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	182		Intercalates between bases and promotes DNA bending.			DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L182L(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGGAAAAGCTGAAGACTGTAA	0.348																																						uc001jkf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CTG>CTA		transcription factor A, mitochondrial precursor							91.0	96.0	94.0					10																	60154126		2203	4300	6503	SO:0001819	synonymous_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60154126G>A	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.546G>A	10.37:g.60154126G>A						TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.L150L	p.L182L	NM_003201	NP_003192	Q00059	TFAM_HUMAN			6	678	+			182			HMG box 2.		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.546G>A	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	G	0.281	-0.986414	0.02180	.	.	ENSG00000108064	ENST00000395377	.	.	.	5.16	3.3	0.37823	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51865	-0.8651	4	.	.	.	.	7.1822	0.25778	0.1985:0.0:0.8015:0.0	.	.	.	.	K	164	.	.	E	+	1	0	TFAM	59824132	1.000000	0.71417	0.507000	0.27676	0.107000	0.19398	2.575000	0.46025	1.172000	0.42781	-0.150000	0.13652	GAA		PASS	0.348	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		11	136	11	136	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63851828	63851828	+	Missense_Mutation	SNP	C	C	G	rs201944744		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:63851828C>G	ENST00000279873.7	+	10	3016	c.2606C>G	c.(2605-2607)tCt>tGt	p.S869C	ARID5B_ENST00000309334.5_Missense_Mutation_p.S626C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	869					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)	p.S869C(1)		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)					GAAAACAGTTCTTTTCCTTCC	0.483																																						uc001jlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(2605-2607)TCT>TGT		AT rich interactive domain 5B (MRF1-like)							85.0	89.0	88.0					10																	63851828		2203	4300	6503	SO:0001583	missense	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.chr10:63851828C>G	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.2606C>G	10.37:g.63851828C>G	ENSP00000279873:p.Ser869Cys						p.S869C	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2632	+	Prostate(12;0.016)|all_hematologic(501;0.215)		869					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.2606C>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597397	0.28445	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.47528	0.85;0.84	5.87	4.97	0.65823	.	0.473208	0.25686	N	0.028972	T	0.33059	0.0850	N	0.22421	0.69	0.20196	N	0.999922	P	0.38642	0.641	B	0.34722	0.188	T	0.28202	-1.0051	10	0.66056	D	0.02	-2.028	11.7713	0.51960	0.0:0.86:0.0:0.14	.	869	Q14865	ARI5B_HUMAN	C	869;626	ENSP00000279873:S869C;ENSP00000308862:S626C	ENSP00000279873:S869C	S	+	2	0	ARID5B	63521834	0.001000	0.12720	0.066000	0.19879	0.993000	0.82548	1.292000	0.33342	1.491000	0.48482	0.655000	0.94253	TCT		PASS	0.483	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		21	133	21	133	---	---	---	---
HK1	3098	broad.mit.edu	37	10	71158397	71158397	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:71158397G>T	ENST00000359426.6	+	17	2526	c.2422G>T	c.(2422-2424)Ggt>Tgt	p.G808C	HK1_ENST00000298649.3_Missense_Mutation_p.G807C|HK1_ENST00000448642.2_Missense_Mutation_p.G843C|HK1_ENST00000404387.2_Missense_Mutation_p.G812C|HK1_ENST00000360289.2_Missense_Mutation_p.G796C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	808	Catalytic.|Hexokinase type-2 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.G807C(1)|p.G812C(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						CCAGCAGCTAGGTCTGAATAG	0.617																																						uc001jpl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2422-2424)GGT>TGT		hexokinase 1 isoform HKI							62.0	53.0	56.0					10																	71158397		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71158397G>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.2422G>T	10.37:g.71158397G>T	ENSP00000352398:p.Gly808Cys					HK1_uc001jpg.3_Missense_Mutation_p.G796C|HK1_uc001jph.3_Missense_Mutation_p.G812C|HK1_uc001jpi.3_Missense_Mutation_p.G812C|HK1_uc001jpj.3_Missense_Mutation_p.G843C|HK1_uc001jpk.3_Missense_Mutation_p.G807C	p.G808C	NM_000188	NP_000179	P19367	HXK1_HUMAN			17	2523	+			808			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.2422G>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942010	0.92526	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	5.69	5.69	0.88448	Hexokinase, C-terminal (1);	0.045472	0.85682	D	0.000000	D	0.99214	0.9727	M	0.91663	3.23	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.763	D;D;D;D;B	0.97110	0.997;1.0;1.0;1.0;0.058	D	0.99357	1.0916	10	0.87932	D	0	-21.5173	19.3943	0.94601	0.0:0.0:1.0:0.0	.	808;807;843;812;796	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	C	796;843;812;807;808;808	ENSP00000353433:G796C;ENSP00000402103:G843C;ENSP00000384774:G812C;ENSP00000298649:G807C;ENSP00000352398:G808C	ENSP00000298649:G807C	G	+	1	0	HK1	70828403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.673000	0.90976	0.563000	0.77884	GGT		PASS	0.617	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		16	27	16	27	---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72503414	72503414	+	Missense_Mutation	SNP	G	G	A	rs149001845		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:72503414G>A	ENST00000373207.1	+	13	2035	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.V682I	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	679	Cys-rich.				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)	p.V682I(2)		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						CCCATACAGCGTCTGTGCGCG	0.657																																						uc001jrh.2																			2	Substitution - Missense(2)	p.V682I(1)	ovary(1)|lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2035-2037)GTC>ATC		ADAM metallopeptidase with thrombospondin type 1		G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	89.0	64.0	73.0		2035,2044	-1.6	0.4	10	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	679/1224,682/1227	72503414	2,13004	2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72503414G>A	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.2035G>A	10.37:g.72503414G>A	ENSP00000362303:p.Val679Ile					ADAMTS14_uc001jrg.2_Missense_Mutation_p.V682I|ADAMTS14_uc001jri.1_Missense_Mutation_p.V202I	p.V679I	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			13	2035	+			679			Cys-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2035G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	4.882	0.163977	0.09287	4.54E-4	0.0	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.66099	-0.19;-0.19	4.92	-1.61	0.08399	.	0.250357	0.31636	N	0.007311	T	0.30854	0.0778	N	0.11789	0.175	0.24623	N	0.993664	B;B;B	0.20164	0.042;0.014;0.014	B;B;B	0.20577	0.03;0.012;0.014	T	0.32534	-0.9903	10	0.02654	T	1	.	6.274	0.20971	0.3347:0.2292:0.4361:0.0	.	612;679;682	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	I	682;679	ENSP00000362304:V682I;ENSP00000362303:V679I	ENSP00000362303:V679I	V	+	1	0	ADAMTS14	72173420	0.982000	0.34865	0.370000	0.25965	0.914000	0.54420	1.836000	0.39191	-0.524000	0.06400	0.655000	0.94253	GTC		PASS	0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		4	31	4	31	---	---	---	---
NUDT13	25961	broad.mit.edu	37	10	74879866	74879866	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:74879866G>A	ENST00000357321.4	+	3	292	c.174G>A	c.(172-174)ctG>ctA	p.L58L	NUDT13_ENST00000372997.3_Silent_p.L58L|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L58L	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13									p.L58L(1)		large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGGCTCCTCTGCTTCAGACTT	0.498																																						uc001jtj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)CTG>CTA		nudix-type motif 13							99.0	99.0	99.0					10																	74879866		2203	4300	6503	SO:0001819	synonymous_variant	25961						hydrolase activity|metal ion binding	g.chr10:74879866G>A	AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.174G>A	10.37:g.74879866G>A						NUDT13_uc010qkc.1_5'UTR|NUDT13_uc010qkd.1_5'UTR|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_Silent_p.L58L|NUDT13_uc010qke.1_5'UTR|NUDT13_uc001jtl.2_Silent_p.L58L	p.L58L	NM_015901	NP_056985	Q86X67	NUD13_HUMAN			3	299	+	Prostate(51;0.0119)		58						Silent	SNP	ENST00000357321.4	37	c.174G>A	CCDS31220.1																																																																																				PASS	0.498	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901		19	70	19	70	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97444366	97444366	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:97444366C>G	ENST00000371217.5	-	9	1008	c.985G>C	c.(985-987)Gag>Cag	p.E329Q	TCTN3_ENST00000430368.2_Intron|TCTN3_ENST00000371209.5_Missense_Mutation_p.E329Q|TCTN3_ENST00000265993.9_Missense_Mutation_p.E347Q			Q6NUS6	TECT3_HUMAN	tectonic family member 3	329					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E329Q(2)|p.E151Q(1)		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)		CCATTGGTCTCTATCTCATAG	0.408																																						uc001klb.3																			3	Substitution - Missense(3)		lung(3)		0						c.(985-987)GAG>CAG		tectonic 3 isoform a precursor							73.0	70.0	71.0					10																	97444366		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97444366C>G	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.985G>C	10.37:g.97444366C>G	ENSP00000360261:p.Glu329Gln					TCTN3_uc001kla.3_Missense_Mutation_p.E178Q|TCTN3_uc010qoi.1_Intron|TCTN3_uc001kld.2_Missense_Mutation_p.E347Q|TCTN3_uc009xux.1_Missense_Mutation_p.E151Q|TCTN3_uc009xuy.1_RNA	p.E329Q	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	9	1229	-		Colorectal(252;0.0815)	329			Extracellular (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.985G>C	CCDS31258.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.130533|3.130533	0.56828|0.56828	.|.	.|.	ENSG00000119977|ENSG00000119977	ENST00000265993;ENST00000371217;ENST00000343162;ENST00000371209|ENST00000424175	D;D|.	0.82344|.	-1.6;-1.6|.	5.63|5.63	4.72|4.72	0.59763|0.59763	Domain of unknown function DUF1619 (1);|.	0.369945|.	0.30771|.	N|.	0.008909|.	T|.	0.60983|.	0.2311|.	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	P;D;P|.	0.52996|.	0.675;0.957;0.681|.	B;P;B|.	0.56788|.	0.372;0.806;0.274|.	T|.	0.59225|.	-0.7494|.	10|.	0.27785|.	T|.	0.31|.	-38.9419|-38.9419	10.7029|10.7029	0.45937|0.45937	0.0:0.9116:0.0:0.0884|0.0:0.9116:0.0:0.0884	.|.	329;329;151|.	Q6NUS6-2;Q6NUS6;Q6NUS6-3|.	.;TECT3_HUMAN;.|.	Q|Y	329;347;151;329|229	ENSP00000265993:E329Q;ENSP00000360253:E329Q|.	ENSP00000265993:E329Q|.	E|X	-|-	1|3	0|2	TCTN3|TCTN3	97434356|97434356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	1.642000|1.642000	0.37207|0.37207	1.499000|1.499000	0.48617|0.48617	0.655000|0.655000	0.94253|0.94253	GAG|TAG		PASS	0.408	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		8	69	8	69	---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97817990	97817990	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:97817990G>C	ENST00000265992.5	+	6	1478	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	CCNJ_ENST00000465148.2_Missense_Mutation_p.E382Q|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.E371Q|CCNJ_ENST00000403870.3_Missense_Mutation_p.E370Q|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	371						nucleus (GO:0005634)		p.E371Q(1)|p.E371K(1)		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)		TCCATGTTTTGAAAGGTGATT	0.398																																						uc001klm.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(1111-1113)GAA>CAA		cyclin J isoform 2							65.0	62.0	63.0					10																	97817990		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97817990G>C	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.1111G>C	10.37:g.97817990G>C	ENSP00000265992:p.Glu371Gln					uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.E382Q|CCNJ_uc001kln.2_Missense_Mutation_p.E370Q	p.E371Q	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1470	+			371					B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.1111G>C	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125466	0.56721	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.50001	0.76;1.35;0.76	5.5	5.5	0.81552	.	0.047972	0.85682	D	0.000000	T	0.34337	0.0894	N	0.08118	0	0.51233	D	0.999915	P;P;P	0.45827	0.867;0.718;0.596	B;B;B	0.42282	0.382;0.295;0.154	T	0.41520	-0.9504	10	0.72032	D	0.01	-14.2458	18.5443	0.91040	0.0:0.0:1.0:0.0	.	382;370;371	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	Q	371;382;370;371	ENSP00000265992:E371Q;ENSP00000384498:E370Q;ENSP00000441415:E371Q	ENSP00000265992:E371Q	E	+	1	0	CCNJ	97807980	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.173000	0.89680	2.744000	0.94065	0.655000	0.94253	GAA		PASS	0.398	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		8	100	8	100	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98411116	98411116	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:98411116T>A	ENST00000339364.5	-	6	996	c.877A>T	c.(877-879)Aac>Tac	p.N293Y	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.N115Y|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	293	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				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)	p.N293Y(1)		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)		GTCTCTGTGTTGTAGGGCACA	0.448																																						uc001kmq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(877-879)AAC>TAC		phosphoinositide-3-kinase adaptor protein 1							145.0	146.0	146.0					10																	98411116		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411116T>A	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.877A>T	10.37:g.98411116T>A	ENSP00000339826:p.Asn293Tyr					PIK3AP1_uc001kmp.2_Missense_Mutation_p.N115Y	p.N293Y	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	6	1005	-		Colorectal(252;0.0442)	293			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.877A>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.406009	0.62288	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.18960	2.85;2.18	5.85	5.85	0.93711	DBB domain (1);	0.267468	0.43919	D	0.000512	T	0.32615	0.0835	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.52066	0.689	T	0.03259	-1.1055	10	0.72032	D	0.01	-31.0417	15.4167	0.74974	0.0:0.0:0.0:1.0	.	293	Q6ZUJ8	BCAP_HUMAN	Y	293;115	ENSP00000339826:N293Y;ENSP00000360151:N115Y	ENSP00000339826:N293Y	N	-	1	0	PIK3AP1	98401106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.988000	0.40697	2.238000	0.73509	0.533000	0.62120	AAC		PASS	0.448	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		7	84	7	84	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102566224	102566224	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:102566224G>C	ENST00000428433.1	+	7	1273	c.723G>C	c.(721-723)caG>caC	p.Q241H	PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.Q218H|PAX2_ENST00000556085.1_Missense_Mutation_p.Q217H|PAX2_ENST00000370296.2_Missense_Mutation_p.Q241H|PAX2_ENST00000355243.3_Missense_Mutation_p.Q218H	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	241					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)	p.Q241H(1)|p.Q218H(1)		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)		GAGATTCCCAGAGTGGTGTGG	0.582																																						uc001krk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(721-723)CAG>CAC		paired box protein 2 isoform e							183.0	167.0	172.0					10																	102566224		2203	4300	6503	SO:0001583	missense	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.chr10:102566224G>C		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.723G>C	10.37:g.102566224G>C	ENSP00000396259:p.Gln241His					PAX2_uc001krl.3_Missense_Mutation_p.Q218H|PAX2_uc001krm.3_Missense_Mutation_p.Q241H|PAX2_uc001kro.3_Missense_Mutation_p.Q218H|PAX2_uc001krn.3_Missense_Mutation_p.Q218H|PAX2_uc010qps.1_Missense_Mutation_p.Q217H|PAX2_uc001krp.1_Missense_Mutation_p.Q214H	p.Q241H	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	7	1273	+		Colorectal(252;0.234)	241					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.723G>C	CCDS53569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.877071|2.877071	0.51801|0.51801	.|.	.|.	ENSG00000075891|ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000554172|ENST00000553492	D;D;D;D;D;D|.	0.98044|.	-4.06;-4.17;-4.3;-4.24;-4.24;-4.68|.	5.06|5.06	4.15|4.15	0.48705|0.48705	Homeodomain-related (1);|.	0.111453|.	0.64402|.	D|.	0.000006|.	T|T	0.56001|0.56001	0.1956|0.1956	L|L	0.39245|0.39245	1.2|1.2	0.58432|0.58432	D|D	0.999995|0.999995	B;B;B;B;B;B;B|.	0.18166|.	0.011;0.005;0.008;0.002;0.026;0.005;0.004|.	B;B;B;B;B;B;B|.	0.18263|.	0.015;0.021;0.015;0.008;0.013;0.015;0.007|.	T|T	0.51857|0.51857	-0.8652|-0.8652	10|5	0.40728|.	T|.	0.16|.	.|.	11.9972|11.9972	0.53209|0.53209	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	217;241;218;214;241;218;214|.	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4|.	.;.;.;.;PAX2_HUMAN;.;.|.	H|T	133;241;241;218;218;217;214|40	ENSP00000359319:Q241H;ENSP00000396259:Q241H;ENSP00000355069:Q218H;ENSP00000347385:Q218H;ENSP00000452527:Q217H;ENSP00000452489:Q214H|.	ENSP00000347385:Q218H|.	Q|R	+|+	3|2	2|0	PAX2|PAX2	102556214|102556214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.607000|7.607000	0.82883|0.82883	2.326000|2.326000	0.78906|0.78906	0.462000|0.462000	0.41574|0.41574	CAG|AGA		PASS	0.582	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				90	153	90	153	---	---	---	---
SUFU	51684	broad.mit.edu	37	10	104353392	104353392	+	Splice_Site	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:104353392G>C	ENST00000369902.3	+	5	763		c.e5-1		SUFU_ENST00000369899.2_Splice_Site|SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site|RNU6-43P_ENST00000384302.1_RNA	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)						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)	p.?(1)		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)		CTGGGCCTCAGATCGTTGGTG	0.587			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													uc001kvy.1			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	D|F|S	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		1	Unknown(1)		lung(1)	central_nervous_system(4)|skin(2)|breast(1)	7						c.e5-1		suppressor of fused							94.0	79.0	84.0					10																	104353392		2203	4300	6503	SO:0001630	splice_region_variant	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.chr10:104353392G>C	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.598-1G>C	10.37:g.104353392G>C						SUFU_uc001kvw.1_Splice_Site_p.I200_splice|SUFU_uc001kvx.2_Splice_Site_p.I200_splice	p.I200_splice	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	5	744	+		Colorectal(252;0.207)						Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Splice_Site	SNP	ENST00000369902.3	37	c.598_splice	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242044	0.58995	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9513	0.97200	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUFU	104343382	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	.		PASS	0.587	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	Intron	16	72	16	72	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118383557	118383557	+	RNA	SNP	G	G	T	rs62623669	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:118383557G>T	ENST00000298771.7	+	0	176				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_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)	p.D51Y(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GTCCCCCGAGGACATTGACAC	0.488																																						uc001lcq.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(154-156)GAC>TAC		pancreatic lipase-related protein 2							109.0	106.0	107.0					10																	118383557		1913	4139	6052			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.chr10:118383557G>T	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.118383557G>T						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.D52Y	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	5	177	+			51					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.154G>T		.	.	.	.	.	.	.	.	.	.	G	10.96	1.499474	0.26861	.	.	ENSG00000165862	ENST00000537242	D	0.90676	-2.71	5.65	1.39	0.22231	Lipase, N-terminal (1);	0.630625	0.14607	N	0.309274	D	0.83207	0.5204	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.23419	0.046	T	0.72640	-0.4232	9	0.59425	D	0.04	.	3.1165	0.06376	0.1478:0.2592:0.4597:0.1333	.	51	P54317	LIPR2_HUMAN	Y	51	ENSP00000446346:D51Y	ENSP00000446346:D51Y	D	+	1	0	PNLIPRP2	118373547	0.019000	0.18553	0.002000	0.10522	0.391000	0.30476	1.505000	0.35736	0.294000	0.22547	0.555000	0.69702	GAC		PASS	0.488	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		65	74	65	74	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127693514	127693514	+	Missense_Mutation	SNP	G	G	T	rs201402832		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:127693514G>T	ENST00000368693.1	+	7	705	c.601G>T	c.(601-603)Gct>Tct	p.A201S	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.A195S			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	201						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A201S(1)		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)				AAGACATGGCGCTTCTTGGCA	0.517																																						uc001ljh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(601-603)GCT>TCT		fibronectin type III and ankyrin repeat domains							175.0	166.0	169.0					10																	127693514		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127693514G>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.601G>T	10.37:g.127693514G>T	ENSP00000357682:p.Ala201Ser					FANK1_uc009yan.2_Missense_Mutation_p.A227S|FANK1_uc001lji.2_Missense_Mutation_p.A195S	p.A201S	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			7	705	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	201			ANK 3.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.601G>T	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021511	0.75275	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	T;T;T	0.61742	0.08;0.08;0.08	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.76364	0.3977	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.75803	-0.3189	10	0.51188	T	0.08	-30.5386	18.8114	0.92059	0.0:0.0:1.0:0.0	.	227;201;201	Q8TC84-3;Q8TC84-2;Q8TC84	.;.;FANK1_HUMAN	S	195;201;179;227	ENSP00000357684:A195S;ENSP00000357682:A201S;ENSP00000357680:A179S	ENSP00000357680:A179S	A	+	1	0	FANK1	127683504	1.000000	0.71417	0.372000	0.25991	0.368000	0.29767	6.447000	0.73465	2.733000	0.93635	0.655000	0.94253	GCT		PASS	0.517	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		80	94	80	94	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129903801	129903801	+	Silent	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr10:129903801T>A	ENST00000368654.3	-	13	6678	c.6303A>T	c.(6301-6303)atA>atT	p.I2101I	MKI67_ENST00000368653.3_Silent_p.I1741I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2101	16 X 122 AA approximate repeats.		I -> T (in dbSNP:rs11016073).		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)	p.I2101I(1)		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)				ATTTGCAGGCTATTTTGGTAG	0.488																																						uc001lke.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6301-6303)ATA>ATT		antigen identified by monoclonal antibody Ki-67							322.0	316.0	318.0					10																	129903801		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903801T>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.6303A>T	10.37:g.129903801T>A						MKI67_uc001lkf.2_Silent_p.I1741I|MKI67_uc009yav.1_Silent_p.I1676I|MKI67_uc009yaw.1_Silent_p.I1251I	p.I2101I	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6498	-		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)	2101			16 X 122 AA approximate repeats.|10.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.6303A>T	CCDS7659.1																																																																																				PASS	0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		241	259	241	259	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3735181	3735181	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:3735181G>A	ENST00000324932.7	-	19	2864	c.2444C>T	c.(2443-2445)aCa>aTa	p.T815I	NUP98_ENST00000397007.4_Missense_Mutation_p.T832I|NUP98_ENST00000355260.3_Missense_Mutation_p.T815I|NUP98_ENST00000397004.4_Missense_Mutation_p.T815I|NUP98_ENST00000359171.4_Missense_Mutation_p.T815I|RNU6-1143P_ENST00000516125.1_RNA	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	832	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				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)	p.T815I(1)		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)		ACAACGAGATGTTTTATCTGT	0.363			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2443-2445)ACA>ATA		nucleoporin 98kD isoform 1							136.0	122.0	127.0					11																	3735181		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.chr11:3735181G>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.2444C>T	11.37:g.3735181G>A	ENSP00000316032:p.Thr815Ile					NUP98_uc001lyi.2_Missense_Mutation_p.T815I|NUP98_uc001lyj.1_Missense_Mutation_p.T815I|NUP98_uc001lyk.1_Missense_Mutation_p.T832I	p.T815I	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	19	2735	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	832			Peptidase S59.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2444C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889065	0.91814	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	0.997;0.981;1.0;0.998	D;D;D;D	0.91635	0.967;0.96;0.999;0.985	T	0.72414	-0.4301	9	0.40728	T	0.16	.	16.5353	0.84371	0.0:0.0:1.0:0.0	.	832;815;815;815	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	I	815;815;815;815;832	.	ENSP00000316032:T815I	T	-	2	0	NUP98	3691757	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.609000	0.98334	2.656000	0.90262	0.655000	0.94253	ACA		PASS	0.363	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		15	90	15	90	---	---	---	---
OR52B2	255725	broad.mit.edu	37	11	6190633	6190633	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:6190633C>A	ENST00000530810.1	-	1	1005	c.924G>T	c.(922-924)cgG>cgT	p.R308R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308R(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCAAAGAACCGGTGGGCTA	0.478																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(922-924)CGG>CGT		olfactory receptor, family 52, subfamily B,							69.0	68.0	68.0					11																	6190633		1923	4131	6054	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190633C>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.924G>T	11.37:g.6190633C>A							p.R308R	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	924	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	308			Cytoplasmic (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.924G>T	CCDS53598.1																																																																																				PASS	0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		26	68	26	68	---	---	---	---
PTH	5741	broad.mit.edu	37	11	13514120	13514120	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:13514120C>T	ENST00000282091.1	-	3	294	c.180G>A	c.(178-180)caG>caA	p.Q60Q	PTH_ENST00000529816.1_Silent_p.Q60Q	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	60	Important for receptor binding.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.Q60Q(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TGTGCACATCCTGCAGCTTCT	0.488																																						uc001mlb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(178-180)CAG>CAA		parathyroid hormone preproprotein							101.0	101.0	101.0					11																	13514120		2200	4294	6494	SO:0001819	synonymous_variant	5741				bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	g.chr11:13514120C>T	J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.180G>A	11.37:g.13514120C>T							p.Q60Q	NM_000315	NP_000306	P01270	PTHY_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)	3	295	-			60			Important for receptor binding.		Q4VB48|Q9UD38	Silent	SNP	ENST00000282091.1	37	c.180G>A	CCDS7812.1																																																																																				PASS	0.488	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315		14	78	14	78	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14880628	14880628	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:14880628C>T	ENST00000282096.4	+	13	2913	c.2560C>T	c.(2560-2562)Cat>Tat	p.H854Y	PDE3B_ENST00000455098.2_Missense_Mutation_p.H803Y	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	854	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)	p.H854Y(1)		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)	GGAAAATCATCATGCTGCGTC	0.343																																						uc001mln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2560-2562)CAT>TAT		phosphodiesterase 3B							158.0	146.0	150.0					11																	14880628		2200	4294	6494	SO:0001583	missense	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.chr11:14880628C>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.2560C>T	11.37:g.14880628C>T	ENSP00000282096:p.His854Tyr					PDE3B_uc010rcr.1_Missense_Mutation_p.H803Y	p.H854Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			13	2913	+			854			Catalytic (By similarity).		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.2560C>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874489	0.91664	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.90676	-2.71;-2.71	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	0.97685	0.9241	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98920	1.0783	10	0.87932	D	0	.	19.7714	0.96367	0.0:1.0:0.0:0.0	.	803;854	B7ZM37;Q13370	.;PDE3B_HUMAN	Y	854;803	ENSP00000282096:H854Y;ENSP00000388644:H803Y	ENSP00000282096:H854Y	H	+	1	0	PDE3B	14837204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.666000	0.90696	0.655000	0.94253	CAT		PASS	0.343	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		20	109	20	109	---	---	---	---
HPS5	11234	broad.mit.edu	37	11	18301471	18301471	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:18301471C>A	ENST00000349215.3	-	23	3625	c.3348G>T	c.(3346-3348)atG>atT	p.M1116I	HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.M1002I|HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000396253.3_Missense_Mutation_p.M1002I	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1116					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.M1116I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTTTCAAGCATGCTTTGTA	0.393									Hermansky-Pudlak syndrome																													uc001mod.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3346-3348)ATG>ATT		Hermansky-Pudlak syndrome 5 isoform a							89.0	86.0	87.0					11																	18301471		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18301471C>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.3348G>T	11.37:g.18301471C>A	ENSP00000265967:p.Met1116Ile					HPS5_uc001moe.1_Missense_Mutation_p.M1002I|HPS5_uc001mof.1_Missense_Mutation_p.M1002I	p.M1116I	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			23	3626	-			1116					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.3348G>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013867	0.75161	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.61627	0.09;0.09;0.09	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74503	-0.3644	10	0.87932	D	0	.	15.0033	0.71492	0.0:1.0:0.0:0.0	.	1116	Q9UPZ3	HPS5_HUMAN	I	1002;1002;1116	ENSP00000379552:M1002I;ENSP00000399590:M1002I;ENSP00000265967:M1116I	ENSP00000265967:M1116I	M	-	3	0	HPS5	18258047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.995000	0.63908	2.600000	0.87896	0.561000	0.74099	ATG		PASS	0.393	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		23	33	23	33	---	---	---	---
TMEM86A	144110	broad.mit.edu	37	11	18723292	18723292	+	Silent	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:18723292T>G	ENST00000280734.2	+	3	555	c.459T>G	c.(457-459)ctT>ctG	p.L153L		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	153						integral component of membrane (GO:0016021)		p.L153L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						ATGTGGCCCTTATCGGCTTCA	0.637																																						uc001moz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(457-459)CTT>CTG		transmembrane protein 86A							65.0	59.0	61.0					11																	18723292		2199	4293	6492	SO:0001819	synonymous_variant	144110					integral to membrane		g.chr11:18723292T>G	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.459T>G	11.37:g.18723292T>G							p.L153L	NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN			3	542	+			153			Helical; (Potential).		Q96AJ0	Silent	SNP	ENST00000280734.2	37	c.459T>G	CCDS7844.1																																																																																				PASS	0.637	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347		13	41	13	41	---	---	---	---
PRRG4	79056	broad.mit.edu	37	11	32874918	32874918	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:32874918C>G	ENST00000257836.3	+	6	779	c.526C>G	c.(526-528)Cca>Gca	p.P176A		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	176			P -> Q (in dbSNP:rs34139105).			extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P176A(1)		large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TGCCTTGTCTCCATTGCCGCC	0.517																																						uc001mtx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CCA>GCA		proline rich Gla (G-carboxyglutamic acid) 4							107.0	100.0	102.0					11																	32874918		2202	4299	6501	SO:0001583	missense	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32874918C>G	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.526C>G	11.37:g.32874918C>G	ENSP00000257836:p.Pro176Ala						p.P176A	NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN			6	779	+	Breast(20;0.206)		176			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000257836.3	37	c.526C>G	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	C	7.748	0.702623	0.15172	.	.	ENSG00000135378	ENST00000257836	D	0.98120	-4.73	5.56	3.64	0.41730	.	0.152215	0.64402	D	0.000011	D	0.95159	0.8431	M	0.74881	2.28	0.09310	N	0.999999	B	0.34372	0.451	B	0.30179	0.112	D	0.89325	0.3643	10	0.34782	T	0.22	-0.7029	4.4774	0.11750	0.1949:0.6472:0.0:0.1579	.	176	Q9BZD6	TMG4_HUMAN	A	176	ENSP00000257836:P176A	ENSP00000257836:P176A	P	+	1	0	PRRG4	32831494	0.004000	0.15560	0.003000	0.11579	0.019000	0.09904	1.002000	0.29796	1.308000	0.44962	0.551000	0.68910	CCA		PASS	0.517	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		15	93	15	93	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761778	55761778	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:55761778C>T	ENST00000278409.1	-	1	323	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	108					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.A108A(2)		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)					ATTCGGTTGTCGCCAGGGAGA	0.483																																						uc010riv.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|pancreas(1)	2						c.(322-324)GCG>GCA		olfactory receptor, family 5, subfamily F,							84.0	82.0	83.0					11																	55761778		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761778C>T	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.324G>A	11.37:g.55761778C>T							p.A108A	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	324	-	Esophageal squamous(21;0.00448)		108			Helical; Name=3; (Potential).		Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.324G>A	CCDS31515.1																																																																																				PASS	0.483	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		20	170	20	170	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798745	55798745	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:55798745T>A	ENST00000313555.1	+	1	851	c.851T>A	c.(850-852)aTg>aAg	p.M284K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M284K(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTATTTCCCATGTTTAATCCA	0.343																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(850-852)ATG>AAG		olfactory receptor, family 5, subfamily AS,							60.0	58.0	58.0					11																	55798745		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798745T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.851T>A	11.37:g.55798745T>A	ENSP00000324111:p.Met284Lys						p.M284K	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	851	+	Esophageal squamous(21;0.00693)		284			Helical; Name=7; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.851T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529976	0.64860	.	.	ENSG00000181785	ENST00000313555	T	0.38887	1.11	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	U	0.001122	T	0.49881	0.1583	N	0.24115	0.695	0.37151	D	0.902146	D	0.71674	0.998	D	0.75484	0.986	T	0.60964	-0.7158	10	0.87932	D	0	.	13.5206	0.61566	0.0:0.0:0.0:1.0	.	284	Q8N127	O5AS1_HUMAN	K	284	ENSP00000324111:M284K	ENSP00000324111:M284K	M	+	2	0	OR5AS1	55555321	0.446000	0.25665	0.994000	0.49952	0.594000	0.36715	3.787000	0.55439	1.865000	0.54081	0.472000	0.43445	ATG		PASS	0.343	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		24	86	24	86	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077747	57077747	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:57077747G>C	ENST00000532437.1	-	5	2749	c.2438C>G	c.(2437-2439)tCt>tGt	p.S813C	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S813C			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	813	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.S813C(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)				CCCTGGGGCAGACACTTTACT	0.637																																						uc001njr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2437-2439)TCT>TGT		tankyrase 1-binding protein 1							120.0	120.0	120.0					11																	57077747		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.chr11:57077747G>C	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.2438C>G	11.37:g.57077747G>C	ENSP00000437271:p.Ser813Cys					TNKS1BP1_uc001njs.2_Missense_Mutation_p.S813C|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.S264C	p.S813C	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	2750	-		all_epithelial(135;0.21)	813			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2438C>G	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	3.491	-0.103850	0.06967	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.31769	1.48;1.48	4.51	-1.48	0.08745	.	1.677650	0.03831	N	0.269101	T	0.24005	0.0581	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23904	-1.0175	10	0.38643	T	0.18	-0.5176	5.055	0.14527	0.084:0.3923:0.3906:0.1332	.	813	Q9C0C2	TB182_HUMAN	C	813	ENSP00000350990:S813C;ENSP00000437271:S813C	ENSP00000350990:S813C	S	-	2	0	TNKS1BP1	56834323	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.387000	0.07361	-0.032000	0.13758	0.462000	0.41574	TCT		PASS	0.637	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		45	289	45	289	---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57182517	57182517	+	Missense_Mutation	SNP	G	G	A	rs151251549		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:57182517G>A	ENST00000395123.2	-	10	1136	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	SLC43A3_ENST00000533524.1_Missense_Mutation_p.R291C|SLC43A3_ENST00000529554.1_Missense_Mutation_p.R278C|SLC43A3_ENST00000352187.1_Missense_Mutation_p.R278C|SLC43A3_ENST00000528098.1_5'Flank|SLC43A3_ENST00000395124.1_Missense_Mutation_p.R278C	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	278					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R278C(1)		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						CAGGCAAAGCGCCGAGAGAAA	0.582																																						uc001nkg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(832-834)CGC>TGC		solute carrier family 43, member 3		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	113.0	104.0	107.0		832,832,832	4.2	0.8	11	dbSNP_134	107	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	SLC43A3	NM_014096.2,NM_017611.2,NM_199329.1	180,180,180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	278/492,278/492,278/492	57182517	1,12993	2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57182517G>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.832C>T	11.37:g.57182517G>A	ENSP00000378555:p.Arg278Cys					PRG2_uc001nke.2_Missense_Mutation_p.R177C|SLC43A3_uc001nkh.2_Missense_Mutation_p.R278C|SLC43A3_uc010rjr.1_Missense_Mutation_p.R291C|SLC43A3_uc009yme.2_Missense_Mutation_p.R278C|SLC43A3_uc001nki.2_Missense_Mutation_p.R278C|SLC43A3_uc009ymf.1_Missense_Mutation_p.R278C	p.R278C	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			10	1242	-			278					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.832C>T	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599447	0.46318	0.0	1.16E-4	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.60797	0.26;0.26;0.26;0.26;0.26;0.16	5.16	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);	0.172978	0.52532	D	0.000070	T	0.65913	0.2737	L	0.57536	1.79	0.44825	D	0.997832	D;D;D	0.69078	0.997;0.991;0.991	D;P;P	0.63488	0.915;0.86;0.86	T	0.64093	-0.6488	10	0.38643	T	0.18	-6.5501	8.0815	0.30748	0.184:0.0:0.816:0.0	.	291;278;278	E7EQD2;Q8NBI5;A8K2X6	.;S43A3_HUMAN;.	C	278;278;278;278;291;278	ENSP00000378555:R278C;ENSP00000378556:R278C;ENSP00000337561:R278C;ENSP00000436254:R278C;ENSP00000434515:R291C;ENSP00000435893:R278C	ENSP00000337561:R278C	R	-	1	0	SLC43A3	56939093	1.000000	0.71417	0.805000	0.32314	0.188000	0.23474	3.588000	0.53964	1.186000	0.42985	0.563000	0.77884	CGC		PASS	0.582	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		18	196	18	196	---	---	---	---
OR5B3	441608	broad.mit.edu	37	11	58170611	58170611	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:58170611G>C	ENST00000309403.2	-	1	271	c.272C>G	c.(271-273)tCt>tGt	p.S91C		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S91C(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)				TGCATTGTAAGAGATGACCTT	0.433																																						uc010rkf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)TCT>TGT		olfactory receptor, family 5, subfamily B,							123.0	114.0	117.0					11																	58170611		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170611G>C	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.272C>G	11.37:g.58170611G>C	ENSP00000308270:p.Ser91Cys						p.S91C	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	272	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	91			Extracellular (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.272C>G	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	12.33	1.905133	0.33628	.	.	ENSG00000172769	ENST00000309403	T	0.00745	5.75	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.142257	0.32935	N	0.005471	T	0.07098	0.0180	H	0.94582	3.555	0.33230	D	0.555808	D	0.89917	1.0	D	0.72338	0.977	T	0.06481	-1.0824	10	0.87932	D	0	-55.5775	15.5832	0.76462	0.0:0.0:1.0:0.0	.	91	Q8NH48	OR5B3_HUMAN	C	91	ENSP00000308270:S91C	ENSP00000308270:S91C	S	-	2	0	OR5B3	57927187	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	4.497000	0.60367	2.338000	0.79540	0.585000	0.79938	TCT		PASS	0.433	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		16	183	16	183	---	---	---	---
GLYATL1	92292	broad.mit.edu	37	11	58723411	58723411	+	Missense_Mutation	SNP	C	C	A	rs140092025		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:58723411C>A	ENST00000317391.4	+	8	1160	c.820C>A	c.(820-822)Cgc>Agc	p.R274S	GLYATL1_ENST00000300079.5_Missense_Mutation_p.R305S|RP11-142C4.6_ENST00000533954.1_RNA|RP11-142C4.6_ENST00000525714.1_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.R274S(1)|p.R305C(1)|p.R305S(1)|p.R274C(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGAAGACTCCCGCAGATTTGT	0.448																																						uc001nnf.2																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(820-822)CGC>AGC		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						65.0	65.0	65.0					11																	58723411		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58723411C>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.820C>A	11.37:g.58723411C>A	ENSP00000322223:p.Arg274Ser					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.R305S|GLYATL1_uc001nni.1_Missense_Mutation_p.R274S|GLYATL1_uc001nnj.1_Missense_Mutation_p.R274S	p.R274S			Q969I3	GLYL1_HUMAN			8	1196	+			274					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.820C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	1.805	-0.476177	0.04414	.	.	ENSG00000166840	ENST00000444580;ENST00000317391;ENST00000300079	T;T	0.19105	2.17;2.17	1.97	0.948	0.19561	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.732987	0.11663	U	0.541605	T	0.12561	0.0305	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.006	T	0.40496	-0.9560	10	0.12766	T	0.61	.	5.0941	0.14723	0.348:0.652:0.0:0.0	.	305;274	Q969I3-2;Q969I3	.;GLYL1_HUMAN	S	251;274;305	ENSP00000322223:R274S;ENSP00000300079:R305S	ENSP00000300079:R305S	R	+	1	0	GLYATL1	58479987	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.035000	0.12205	-0.011000	0.14247	0.411000	0.27672	CGC		PASS	0.448	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		84	97	84	97	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59282956	59282956	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:59282956G>C	ENST00000329328.3	+	1	571	c.571G>C	c.(571-573)Gac>Cac	p.D191H		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D191H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCCTGCACTGACACCTTCAC	0.453																																						uc010rkv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GAC>CAC		olfactory receptor, family 4, subfamily D,							187.0	162.0	170.0					11																	59282956		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282956G>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.571G>C	11.37:g.59282956G>C	ENSP00000328563:p.Asp191His						p.D191H	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	571	+			191			Extracellular (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.571G>C	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658264	0.29425	.	.	ENSG00000172742	ENST00000329328	T	0.00262	8.4	4.44	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000526	T	0.00552	0.0018	M	0.91818	3.245	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.38351	-0.9665	10	0.87932	D	0	-8.8824	6.1843	0.20488	0.4874:0.0:0.5126:0.0	.	191	Q8NGE8	OR4D9_HUMAN	H	191	ENSP00000328563:D191H	ENSP00000328563:D191H	D	+	1	0	OR4D9	59039532	0.006000	0.16342	0.365000	0.25901	0.516000	0.34256	0.538000	0.23160	0.413000	0.25759	0.557000	0.71058	GAC		PASS	0.453	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		23	268	23	268	---	---	---	---
CCDC86	79080	broad.mit.edu	37	11	60617696	60617696	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:60617696G>C	ENST00000227520.5	+	4	1035	c.981G>C	c.(979-981)aaG>aaC	p.K327N	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Missense_Mutation_p.K71N	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	327					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K327N(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						ACCCCGCCAAGCTCAAGCGGG	0.637																																						uc001nqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(979-981)AAG>AAC		coiled-coil domain containing 86							55.0	63.0	61.0					11																	60617696		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60617696G>C	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.981G>C	11.37:g.60617696G>C	ENSP00000227520:p.Lys327Asn					CCDC86_uc001nqb.2_Missense_Mutation_p.K71N	p.K327N	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			4	1150	+			327					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.981G>C	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860955	0.71949	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T;D	0.81821	-0.03;-1.54	4.66	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.81942	2.565	0.49389	D	0.999789	D	0.89917	1.0	D	0.87578	0.998	D	0.88855	0.3322	10	0.87932	D	0	-31.7261	10.2029	0.43097	0.0943:0.0:0.9057:0.0	.	327	Q9H6F5	CCD86_HUMAN	N	327;71	ENSP00000227520:K327N;ENSP00000440906:K71N	ENSP00000227520:K327N	K	+	3	2	CCDC86	60374272	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.442000	0.44873	1.186000	0.42985	0.561000	0.74099	AAG		PASS	0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		25	107	25	107	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298072	62298072	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:62298072C>T	ENST00000378024.4	-	5	4091	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1273					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.E1273K(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)				ACATCCACTTCTCGGCCCTCT	0.547																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3817-3819)GAA>AAA		AHNAK nucleoprotein isoform 1							213.0	221.0	218.0					11																	62298072		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298072C>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.3817G>A	11.37:g.62298072C>T	ENSP00000367263:p.Glu1273Lys					AHNAK_uc001ntk.1_Intron	p.E1273K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4117	-		Melanoma(852;0.155)	1273					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3817G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	12.47	1.948513	0.34377	.	.	ENSG00000124942	ENST00000378024	T	0.03212	4.01	4.89	4.89	0.63831	.	0.279100	0.18743	U	0.132415	T	0.07413	0.0187	M	0.71871	2.18	0.21499	N	0.999661	P	0.39520	0.676	B	0.43783	0.431	T	0.22103	-1.0226	10	0.08179	T	0.78	.	12.8632	0.57926	0.0:0.9183:0.0:0.0817	.	1273	Q09666	AHNK_HUMAN	K	1273	ENSP00000367263:E1273K	ENSP00000367263:E1273K	E	-	1	0	AHNAK	62054648	0.759000	0.28416	0.491000	0.27477	0.386000	0.30323	3.577000	0.53885	2.424000	0.82194	0.650000	0.86243	GAA		PASS	0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		117	361	117	361	---	---	---	---
SLC22A10	387775	broad.mit.edu	37	11	63064845	63064845	+	Missense_Mutation	SNP	G	G	T	rs113851643	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:63064845G>T	ENST00000332793.6	+	3	579	c.577G>T	c.(577-579)Gct>Tct	p.A193S	SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000544661.1_Missense_Mutation_p.A38S|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	193						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.A193S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CGCTGCCTTCGCTCCCACCTT	0.428																																						uc009yor.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(577-579)GCT>TCT		solute carrier family 22, member 10							171.0	171.0	171.0					11																	63064845		2078	4241	6319	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63064845G>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.577G>T	11.37:g.63064845G>T	ENSP00000327569:p.Ala193Ser					SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	p.A193S	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			3	785	+			193			Cytoplasmic (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.577G>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004673	0.35320	.	.	ENSG00000184999	ENST00000544661;ENST00000332793	T;T	0.75938	-0.98;-0.98	3.26	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.072578	0.56097	U	0.000037	T	0.70272	0.3205	L	0.41079	1.255	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.69007	-0.5259	10	0.07325	T	0.83	.	4.178	0.10362	0.1266:0.0:0.6467:0.2267	.	193	Q63ZE4	S22AA_HUMAN	S	38;193	ENSP00000445667:A38S;ENSP00000327569:A193S	ENSP00000327569:A193S	A	+	1	0	SLC22A10	62821421	0.063000	0.20901	0.071000	0.20095	0.003000	0.03518	1.077000	0.30741	0.751000	0.32900	-0.424000	0.05967	GCT		PASS	0.428	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		51	202	51	202	---	---	---	---
FERMT3	83706	broad.mit.edu	37	11	63987220	63987220	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:63987220C>A	ENST00000279227.5	+	9	1133	c.1038C>A	c.(1036-1038)ctC>ctA	p.L346L	FERMT3_ENST00000345728.5_Silent_p.L346L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	346	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)	p.L346L(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGGACAGCCTCACCACCATCC	0.622																																						uc001nyl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1036-1038)CTC>CTA		fermitin family homolog 3 long form							96.0	101.0	100.0					11																	63987220		2201	4297	6498	SO:0001819	synonymous_variant	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.chr11:63987220C>A	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.1038C>A	11.37:g.63987220C>A						FERMT3_uc001nym.2_Silent_p.L346L	p.L346L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			9	1187	+			346			FERM.		Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	c.1038C>A	CCDS8060.1																																																																																				PASS	0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		24	241	24	241	---	---	---	---
NUDT22	84304	broad.mit.edu	37	11	63997459	63997459	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:63997459C>T	ENST00000279206.3	+	6	1065	c.909C>T	c.(907-909)ctC>ctT	p.L303L	DNAJC4_ENST00000321460.5_5'Flank|NUDT22_ENST00000441250.2_Silent_p.L270L|DNAJC4_ENST00000355040.4_5'Flank|DNAJC4_ENST00000321685.3_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	303							hydrolase activity (GO:0016787)	p.L303L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TCCCGCCGCTCTGAAAATAAT	0.547																																						uc001nyp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(907-909)CTC>CTT		nudix (nucleoside diphosphate linked moiety							29.0	34.0	32.0					11																	63997459		2198	4289	6487	SO:0001819	synonymous_variant	84304						hydrolase activity	g.chr11:63997459C>T	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.909C>T	11.37:g.63997459C>T						NUDT22_uc009ype.2_Silent_p.L303L|NUDT22_uc001nyq.3_Silent_p.L270L|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank	p.L303L	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			6	1089	+			303					C9JY06|Q71RD5	Silent	SNP	ENST00000279206.3	37	c.909C>T	CCDS8061.1																																																																																				PASS	0.547	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		9	91	9	91	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64544043	64544043	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:64544043C>T	ENST00000377390.3	-	2	424	c.87G>A	c.(85-87)caG>caA	p.Q29Q	SF1_ENST00000377394.3_Silent_p.Q29Q|SF1_ENST00000377387.1_Silent_p.Q154Q|SF1_ENST00000334944.5_Silent_p.Q29Q|SF1_ENST00000227503.9_Silent_p.Q29Q|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Silent_p.Q3Q|AP001462.6_ENST00000594089.1_lincRNA	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	29					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)	p.Q29Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCACTGTCTTCTGTTCCATTG	0.428																																						uc001obb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(85-87)CAG>CAA		splicing factor 1 isoform 1							163.0	152.0	155.0					11																	64544043		2201	4297	6498	SO:0001819	synonymous_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.chr11:64544043C>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.87G>A	11.37:g.64544043C>T						SF1_uc010rnn.1_Silent_p.Q3Q|SF1_uc001oaz.1_Silent_p.Q154Q|SF1_uc001oba.1_Silent_p.Q29Q|SF1_uc001obc.1_Silent_p.Q29Q|SF1_uc001obd.1_Silent_p.Q29Q|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Silent_p.Q29Q	p.Q29Q	NM_004630	NP_004621	Q15637	SF01_HUMAN			2	464	-			29					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	ENST00000377390.3	37	c.87G>A	CCDS31599.1																																																																																				PASS	0.428	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		12	164	12	164	---	---	---	---
MAP4K2	5871	broad.mit.edu	37	11	64557882	64557882	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:64557882G>A	ENST00000294066.2	-	28	2236	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	MAP4K2_ENST00000377350.3_Silent_p.I707I	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	715	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)	p.I715I(2)		cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGCTGACTAGGATTGTGTCCC	0.632																																						uc001obh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2143-2145)ATC>ATT		mitogen-activated protein kinase kinase kinase							106.0	95.0	99.0					11																	64557882		2201	4297	6498	SO:0001819	synonymous_variant	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.chr11:64557882G>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.2145C>T	11.37:g.64557882G>A						MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Silent_p.I707I	p.I715I	NM_004579	NP_004570	Q12851	M4K2_HUMAN			28	2237	-			715			CNH.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.2145C>T	CCDS8082.1																																																																																				PASS	0.632	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		17	143	17	143	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64664301	64664301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:64664301C>A	ENST00000377264.3	-	38	5303	c.5191G>T	c.(5191-5193)Gag>Tag	p.E1731*	ATG2A_ENST00000421419.2_Nonsense_Mutation_p.E1733*	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1731					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1731*(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGCAGCCACTCGTTGAGGGCA	0.632											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5191-5193)GAG>TAG		autophagy related 2A							54.0	52.0	52.0					11																	64664301		2201	4297	6498	SO:0001587	stop_gained	23130						protein binding	g.chr11:64664301C>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.5191G>T	11.37:g.64664301C>A	ENSP00000366475:p.Glu1731*		OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.2_Nonsense_Mutation_p.E496*	p.E1731*	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			38	5306	-			1731					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Nonsense_Mutation	SNP	ENST00000377264.3	37	c.5191G>T	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.202798|10.202798	0.99358|0.99358	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264|ENST00000418259	.|.	.|.	.|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.63319	.|0.2501	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70245	.|-0.4925	.|3	0.72032|.	D|.	0.01|.	.|.	14.0919|14.0919	0.64995|0.64995	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1733;124;1731|1534	.|.	ENSP00000366473:E124X|.	E|R	-|-	1|2	0|0	ATG2A|ATG2A	64420877|64420877	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.954000|0.954000	0.61252|0.61252	6.896000|6.896000	0.75665|0.75665	2.273000|2.273000	0.75805|0.75805	0.561000|0.561000	0.74099|0.74099	GAG|CGA		PASS	0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	29	4	29	---	---	---	---
SNX15	29907	broad.mit.edu	37	11	64803125	64803125	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:64803125C>G	ENST00000377244.3	+	6	784	c.654C>G	c.(652-654)ttC>ttG	p.F218L	SNX15_ENST00000352068.5_Missense_Mutation_p.F218L|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	218					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)	p.F218L(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TCGACCCCTTCTCCAAGGAAG	0.637																																					Esophageal Squamous(56;269 1304 3324 8253)	uc001oci.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(652-654)TTC>TTG		sorting nexin 15 isoform A							60.0	60.0	60.0					11																	64803125		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64803125C>G	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.654C>G	11.37:g.64803125C>G	ENSP00000366452:p.Phe218Leu					SNX15_uc009ypy.2_Missense_Mutation_p.F218L|SNX15_uc001ocj.2_Missense_Mutation_p.F218L|SNX15_uc001ock.2_Missense_Mutation_p.F218L	p.F218L	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN			9	1307	+			218					E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.654C>G	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465460	0.43839	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000352068	T;T;T	0.33438	1.95;1.41;1.93	4.43	3.52	0.40303	.	0.795744	0.11893	N	0.519399	T	0.16811	0.0404	N	0.14661	0.345	0.30087	N	0.80867	B;B;B	0.24483	0.104;0.018;0.104	B;B;B	0.21708	0.036;0.025;0.036	T	0.18650	-1.0330	10	0.27082	T	0.32	-11.8312	6.5991	0.22691	0.0:0.7903:0.0:0.2097	.	218;218;218	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	L	218;214;218	ENSP00000366452:F218L;ENSP00000437277:F214L;ENSP00000316410:F218L	ENSP00000316410:F218L	F	+	3	2	SNX15	64559701	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	3.716000	0.54904	1.093000	0.41377	0.563000	0.77884	TTC		PASS	0.637	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			22	226	22	226	---	---	---	---
ZFPL1	7542	broad.mit.edu	37	11	64854843	64854843	+	Silent	SNP	A	A	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:64854843A>C	ENST00000294258.3	+	7	836	c.684A>C	c.(682-684)ggA>ggC	p.G228G	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	228					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)	p.G228G(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCTCCATGGAGACTGTGACG	0.602																																						uc001ocq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(682-684)GGA>GGC		zinc finger protein-like 1							95.0	98.0	97.0					11																	64854843		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.chr11:64854843A>C		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.684A>C	11.37:g.64854843A>C							p.G228G	NM_006782	NP_006773	O95159	ZFPL1_HUMAN			7	849	+			228			Cytoplasmic (Potential).		A8K7E9|O14616|Q9UID0	Silent	SNP	ENST00000294258.3	37	c.684A>C	CCDS8092.1																																																																																				PASS	0.602	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		86	115	86	115	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65375870	65375870	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:65375870C>T	ENST00000530153.1	-	2	539	c.18G>A	c.(16-18)ctG>ctA	p.L6L	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.L263L|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11									p.L263L(2)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGTGATCTTCAGGGTCTTGT	0.572																																						uc001oew.2																			2	Substitution - coding silent(2)	p.L263L(1)	lung(1)|breast(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(787-789)CTG>CTA		mitogen-activated protein kinase kinase kinase							89.0	72.0	78.0					11																	65375870		2201	4297	6498	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375870C>T		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.18G>A	11.37:g.65375870C>T						MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.L6L|MAP3K11_uc001oex.1_5'UTR	p.L263L	NM_002419	NP_002410	Q16584	M3K11_HUMAN			2	1282	-			263	ILLLQPIESDDMEHKTLKITDFGLAR -> SEFLGAWLGVA WLWYTPAPNLPLSLA (in Ref. 3; BAD92892).		Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.789G>A																																																																																					PASS	0.572	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			11	83	11	83	---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65650870	65650870	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:65650870C>G	ENST00000307886.3	+	9	1041	c.995C>G	c.(994-996)tCc>tGc	p.S332C	CTSW_ENST00000528419.1_Missense_Mutation_p.S332C|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	332					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)	p.S332C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CTGAAGAACTCCTGGGGGGCC	0.602																																						uc001ogc.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(994-996)TCC>TGC		cathepsin W preproprotein							70.0	74.0	72.0					11																	65650870		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650870C>G	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.995C>G	11.37:g.65650870C>G	ENSP00000311300:p.Ser332Cys					CTSW_uc001ogb.1_Missense_Mutation_p.S332C	p.S332C	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	9	1037	+			332					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.995C>G	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871604	0.72065	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.68765	-0.35;-0.35	4.99	4.99	0.66335	Peptidase C1A, papain C-terminal (3);	0.230306	0.29314	N	0.012518	D	0.87692	0.6241	H	0.97635	4.045	0.48571	D	0.999675	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91535	0.5245	10	0.87932	D	0	.	13.7501	0.62901	0.0:1.0:0.0:0.0	.	332;332	P56202;E9PI30	CATW_HUMAN;.	C	332	ENSP00000311300:S332C;ENSP00000436568:S332C	ENSP00000311300:S332C	S	+	2	0	CTSW	65407446	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.947000	0.40293	2.317000	0.78254	0.491000	0.48974	TCC		PASS	0.602	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		12	231	12	231	---	---	---	---
BRMS1	25855	broad.mit.edu	37	11	66108320	66108320	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:66108320C>G	ENST00000359957.3	-	6	620	c.460G>C	c.(460-462)Gac>Cac	p.D154H	BRMS1_ENST00000425825.2_Missense_Mutation_p.D154H|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	154					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)	p.D154H(2)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TGCAGCGTGTCATAGAGCAGC	0.647																																					GBM(7;55 307 2662 20856 28942)	uc001ohp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(460-462)GAC>CAC		breast cancer metastasis suppressor 1 isoform 1							36.0	32.0	34.0					11																	66108320		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.chr11:66108320C>G	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.460G>C	11.37:g.66108320C>G	ENSP00000353042:p.Asp154His					BRMS1_uc001oho.1_Missense_Mutation_p.D154H|BRMS1_uc009yre.2_Missense_Mutation_p.M1I	p.D154H	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN			6	607	-			154					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.460G>C	CCDS8135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.022643|4.022643	0.75275|0.75275	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69360|.	0.3102|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;D|.	0.54397|.	0.806;0.966|.	P;P|.	0.58780|.	0.656;0.845|.	T|.	0.67321|.	-0.5700|.	9|.	0.59425|.	D|.	0.04|.	-27.748|-27.748	16.0393|16.0393	0.80651|0.80651	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	154;154|.	Q9HCU9;G5E9I4|.	BRMS1_HUMAN;.|.	H|S	154|116	.|.	ENSP00000353042:D154H|.	D|X	-|-	1|2	0|2	BRMS1|BRMS1	65864896|65864896	1.000000|1.000000	0.71417|0.71417	0.537000|0.537000	0.28052|0.28052	0.741000|0.741000	0.42261|0.42261	6.468000|6.468000	0.73551|0.73551	2.396000|2.396000	0.81511|0.81511	0.455000|0.455000	0.32223|0.32223	GAC|TGA		PASS	0.647	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		24	35	24	35	---	---	---	---
PC	5091	broad.mit.edu	37	11	66618620	66618620	+	Nonsense_Mutation	SNP	G	G	C	rs113994146		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:66618620G>C	ENST00000393958.2	-	16	2207	c.2114C>G	c.(2113-2115)tCa>tGa	p.S705*	PC_ENST00000393960.1_Nonsense_Mutation_p.S705*|PC_ENST00000393955.2_Nonsense_Mutation_p.S705*|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	705	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)	p.S705*(1)		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)	GCCCGTGTATGAGATGGCAGC	0.617																																						uc001ojn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(2113-2115)TCA>TGA		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						76.0	70.0	72.0					11																	66618620		2200	4295	6495	SO:0001587	stop_gained	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618620G>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.2114C>G	11.37:g.66618620G>C	ENSP00000377530:p.Ser705*					PC_uc001ojo.1_Nonsense_Mutation_p.S705*|PC_uc001ojp.1_Nonsense_Mutation_p.S705*|PC_uc001ojm.1_5'Flank	p.S705*	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2163	-		Melanoma(852;0.0525)	705			Carboxyltransferase.		B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	37	c.2114C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	39	7.333037	0.98217	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7887	14.8168	0.70041	0.0:0.0:1.0:0.0	.	.	.	.	X	705	.	ENSP00000377527:S705X	S	-	2	0	PC	66375196	1.000000	0.71417	0.990000	0.47175	0.509000	0.34042	5.836000	0.69375	2.354000	0.79902	0.655000	0.94253	TCA		PASS	0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	95	7	95	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67171760	67171760	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:67171760C>T	ENST00000542590.1	+	1	101	c.87C>T	c.(85-87)agC>agT	p.S29S	PPP1CA_ENST00000532446.1_5'Flank|TBC1D10C_ENST00000526387.1_Silent_p.S29S|PPP1CA_ENST00000312989.7_5'Flank|TBC1D10C_ENST00000312390.5_Silent_p.S29S|PPP1CA_ENST00000358239.4_5'Flank|PPP1CA_ENST00000376745.4_5'Flank			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	29					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)	p.S29S(1)		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)			CAGAGCTCAGCGGGCCTGGCC	0.687																																						uc001ola.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)AGC>AGT		TBC1 domain family, member 10C							18.0	21.0	20.0					11																	67171760		2194	4282	6476	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67171760C>T	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.87C>T	11.37:g.67171760C>T						PPP1CA_uc009yro.1_5'Flank|PPP1CA_uc001okt.1_5'Flank|PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|PPP1CA_uc001oky.2_5'Flank|TBC1D10C_uc001okz.2_Silent_p.S29S|TBC1D10C_uc001olb.2_RNA	p.S29S	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		2	116	+			29					G3V1D6	Silent	SNP	ENST00000542590.1	37	c.87C>T	CCDS8162.1																																																																																				PASS	0.687	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		6	55	6	55	---	---	---	---
CPT1A	1374	broad.mit.edu	37	11	68571486	68571486	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:68571486G>C	ENST00000265641.5	-	5	691	c.537C>G	c.(535-537)gtC>gtG	p.V179V	CPT1A_ENST00000539743.1_Silent_p.V179V|CPT1A_ENST00000376618.2_Silent_p.V179V|CPT1A_ENST00000540367.1_Silent_p.V179V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	179					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.V179V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CAGTGTCTTTGACAGCCGGGA	0.493																																						uc001oog.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(535-537)GTC>GTG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						78.0	71.0	74.0					11																	68571486		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68571486G>C	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.537C>G	11.37:g.68571486G>C						CPT1A_uc001oof.3_Silent_p.V179V|CPT1A_uc009ysj.2_Silent_p.V179V	p.V179V	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		5	707	-	Esophageal squamous(3;3.28e-14)		179			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.537C>G	CCDS8185.1																																																																																				PASS	0.493	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		9	80	9	80	---	---	---	---
RNF121	55298	broad.mit.edu	37	11	71706589	71706589	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:71706589C>T	ENST00000361756.3	+	8	1216	c.855C>T	c.(853-855)ttC>ttT	p.F285F	RNF121_ENST00000533380.1_Silent_p.F125F|RNF121_ENST00000393713.3_3'UTR|RNF121_ENST00000545854.1_Silent_p.F204F|IL18BP_ENST00000393703.4_5'Flank|RNF121_ENST00000530137.1_Silent_p.F253F	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	285						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.F285F(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGAGGATGTTCAGCAATCCGT	0.542																																						uc001ora.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(853-855)TTC>TTT		ring finger protein 121							174.0	135.0	148.0					11																	71706589		2200	4292	6492	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71706589C>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.855C>T	11.37:g.71706589C>T						RNF121_uc001ord.2_Silent_p.F204F|RNF121_uc001orb.2_Silent_p.F253F|RNF121_uc009yst.2_3'UTR	p.F285F	NM_018320	NP_060790	Q9H920	RN121_HUMAN			8	1195	+			285					B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	c.855C>T	CCDS8203.1																																																																																				PASS	0.542	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		3	24	3	24	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73075604	73075604	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:73075604A>G	ENST00000263674.3	+	18	5859	c.5509A>G	c.(5509-5511)Aac>Gac	p.N1837D		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1837					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)	p.N1837D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGCTGCCAGAACCGAGTCCT	0.612																																						uc001otu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5509-5511)AAC>GAC		Rho guanine nucleotide exchange factor (GEF) 17							38.0	41.0	40.0					11																	73075604		2200	4293	6493	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.chr11:73075604A>G	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.5509A>G	11.37:g.73075604A>G	ENSP00000263674:p.Asn1837Asp						p.N1837D	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			18	5530	+			1837					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5509A>G	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	32	5.159182	0.94686	.	.	ENSG00000110237	ENST00000263674	T	0.20463	2.07	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.82193	2.58	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.56263	-0.8008	10	0.66056	D	0.02	-28.9332	15.0585	0.71933	1.0:0.0:0.0:0.0	.	1837	Q96PE2	ARHGH_HUMAN	D	1837	ENSP00000263674:N1837D	ENSP00000263674:N1837D	N	+	1	0	ARHGEF17	72753252	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.395000	0.79876	2.149000	0.67028	0.533000	0.62120	AAC		PASS	0.612	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		47	71	47	71	---	---	---	---
UCP3	7352	broad.mit.edu	37	11	73717284	73717284	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:73717284C>T	ENST00000314032.4	-	3	819	c.267G>A	c.(265-267)atG>atA	p.M89I	UCP3_ENST00000426995.2_Missense_Mutation_p.M89I|UCP3_ENST00000348534.4_Missense_Mutation_p.M89I	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	89					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)	p.M89I(1)		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)					AGGCGAAGCTCATCTGGCGCT	0.637																																						uc001our.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(265-267)ATG>ATA		uncoupling protein 3 isoform UCP3L							37.0	37.0	37.0					11																	73717284		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717284C>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.267G>A	11.37:g.73717284C>T	ENSP00000323740:p.Met89Ile					UCP3_uc001ous.2_Missense_Mutation_p.M89I	p.M89I	NM_003356	NP_003347	P55916	UCP3_HUMAN			3	622	-	Breast(11;2.08e-05)		89			Solcar 1.|Helical; Name=2; (Potential).		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.267G>A	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428082	0.62844	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	N	0.17764	0.52	0.58432	D	0.999998	B	0.14438	0.01	B	0.31495	0.131	T	0.62473	-0.6847	10	0.18710	T	0.47	-7.091	19.0311	0.92957	0.0:1.0:0.0:0.0	.	89	P55916	UCP3_HUMAN	I	89	ENSP00000323740:M89I;ENSP00000343615:M89I;ENSP00000392143:M89I;ENSP00000445279:M89I	ENSP00000323740:M89I	M	-	3	0	UCP3	73394932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.609000	0.88269	0.561000	0.74099	ATG		PASS	0.637	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		5	37	5	37	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73811650	73811650	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:73811650C>G	ENST00000334126.7	-	15	2878	c.2652G>C	c.(2650-2652)tgG>tgC	p.W884C	C2CD3_ENST00000313663.7_Missense_Mutation_p.W884C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	884					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)		p.W884C(2)		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)					GCACCTTATTCCAAGTTTCAA	0.448																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(2650-2652)TGG>TGC		C2 calcium-dependent domain containing 3							102.0	96.0	98.0					11																	73811650		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73811650C>G	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.2652G>C	11.37:g.73811650C>G	ENSP00000334379:p.Trp884Cys						p.W884C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			15	2879	-	Breast(11;4.16e-06)		884					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.2652G>C		.	.	.	.	.	.	.	.	.	.	C	24.0	4.486892	0.84854	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	D;D	0.96041	-3.89;-3.89	5.86	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97633	1.0143	10	0.87932	D	0	-4.8787	15.0561	0.71915	0.0:0.9301:0.0:0.0698	.	884	Q4AC94-1	.	C	884	ENSP00000334379:W884C;ENSP00000323339:W884C	ENSP00000323339:W884C	W	-	3	0	C2CD3	73489298	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.033000	0.70925	2.771000	0.95319	0.650000	0.86243	TGG		PASS	0.448	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		62	81	62	81	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74414013	74414013	+	Splice_Site	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:74414013C>T	ENST00000376332.3	-	9	1443		c.e9-1		CHRDL2_ENST00000263671.5_Splice_Site|CHRDL2_ENST00000534159.1_Splice_Site	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCTTTGTCCTCTGGAGAGACA	0.502											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ovi.2																			1	Unknown(1)		lung(1)		0						c.e9-1		RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;							80.0	80.0	80.0					11																	74414013		2200	4293	6493	SO:0001630	splice_region_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74414013C>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.947-1G>A	11.37:g.74414013C>T			OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	CHRDL2_uc001ovg.2_Splice_Site_p.E200_splice|CHRDL2_uc001ovh.2_Splice_Site_p.E316_splice|CHRDL2_uc001ovj.1_Intron|CHRDL2_uc001ovk.1_Intron	p.E316_splice			Q6WN34	CRDL2_HUMAN			9	1200	-	Hepatocellular(1;0.098)							A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Splice_Site	SNP	ENST00000376332.3	37	c.947_splice		.	.	.	.	.	.	.	.	.	.	C	16.61	3.172225	0.57584	.	.	ENSG00000054938	ENST00000525413;ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8815	0.63684	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRDL2	74091661	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	4.638000	0.61353	2.406000	0.81754	0.561000	0.74099	.		PASS	0.502	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		Intron	11	173	11	173	---	---	---	---
PRSS23	11098	broad.mit.edu	37	11	86519517	86519517	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:86519517C>T	ENST00000280258.5	+	2	1257	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.H246Y	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	278						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.H278Y(1)		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)				GGGCAGAATTCACTTCTCTGG	0.483																																						uc001pcb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(832-834)CAC>TAC		protease, serine, 23 precursor							79.0	83.0	81.0					11																	86519517		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519517C>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.832C>T	11.37:g.86519517C>T	ENSP00000280258:p.His278Tyr					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.H246Y	p.H278Y	NM_007173	NP_009104	O95084	PRS23_HUMAN			2	1048	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	278					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.832C>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481027	0.84747	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.39056	1.1;1.1	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.55283	-0.8165	9	.	.	.	-33.856	20.6282	0.99521	0.0:1.0:0.0:0.0	.	246;278	B4E2J3;O95084	.;PRS23_HUMAN	Y	278;246	ENSP00000280258:H278Y;ENSP00000393015:H246Y	.	H	+	1	0	PRSS23	86197165	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.392000	0.79840	2.871000	0.98454	0.655000	0.94253	CAC		PASS	0.483	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173		24	148	24	148	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89892410	89892410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:89892410C>A	ENST00000534061.1	+	8	1124	c.894C>A	c.(892-894)taC>taA	p.Y298*	NAALAD2_ENST00000321955.4_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	298	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.Y298*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGTCAGCTACTTGGGAGGAA	0.358																																						uc001pdf.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(892-894)TAC>TAA		N-acetylated alpha-linked acidic dipeptidase 2							95.0	92.0	93.0					11																	89892410		2201	4299	6500	SO:0001587	stop_gained	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89892410C>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.894C>A	11.37:g.89892410C>A	ENSP00000432481:p.Tyr298*					NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron	p.Y298*	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			8	1003	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	298			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Nonsense_Mutation	SNP	ENST00000534061.1	37	c.894C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227778	0.79576	.	.	ENSG00000077616	ENST00000534061	.	.	.	5.94	-5.67	0.02444	.	1.022580	0.07757	N	0.949456	.	.	.	.	.	.	0.26575	N	0.973497	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.0348	17.5338	0.87822	0.1016:0.7714:0.0:0.1271	.	.	.	.	X	298	.	.	Y	+	3	2	NAALAD2	89532058	0.000000	0.05858	0.068000	0.19968	0.650000	0.38633	-1.698000	0.01908	-1.054000	0.03214	-0.482000	0.04802	TAC		PASS	0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		41	60	41	60	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	100064360	100064360	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:100064360G>C	ENST00000524871.1	+	15	2139	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q	CNTN5_ENST00000527185.1_Missense_Mutation_p.E617Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.E543Q|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.E617Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.E617Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	617	Ig-like C2-type 6.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.E617Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTGATTTCGAGGAAGAGGG	0.373																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1849-1851)GAG>CAG		contactin 5 isoform long							103.0	97.0	99.0					11																	100064360		1855	4094	5949	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100064360G>C	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.1849G>C	11.37:g.100064360G>C	ENSP00000435637:p.Glu617Gln					CNTN5_uc009ywv.1_Missense_Mutation_p.E617Q|CNTN5_uc001pfz.2_Missense_Mutation_p.E617Q|CNTN5_uc001pgb.2_Missense_Mutation_p.E543Q|CNTN5_uc010ruk.1_5'UTR	p.E617Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	15	2188	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	617			Ig-like C2-type 6.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1849G>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385752	0.25031	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.146085	0.64402	D	0.000008	T	0.21186	0.0510	N	0.11427	0.14	0.41965	D	0.99072	B;B;B	0.19817	0.039;0.01;0.021	B;B;B	0.25140	0.058;0.021;0.058	T	0.09662	-1.0664	10	0.20046	T	0.44	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	617;543;617	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Q	617;617;617;543;617	ENSP00000433575:E617Q;ENSP00000436185:E617Q;ENSP00000435637:E617Q;ENSP00000393229:E543Q;ENSP00000279463:E617Q	ENSP00000279463:E617Q	E	+	1	0	CNTN5	99569570	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	2.761000	0.47589	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		11	55	11	55	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115049489	115049489	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:115049489C>T	ENST00000452722.3	-	9	1105	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	CADM1_ENST00000537058.1_Missense_Mutation_p.R373Q|CADM1_ENST00000542447.2_Missense_Mutation_p.R334Q|CADM1_ENST00000536727.1_Missense_Mutation_p.R363Q|CADM1_ENST00000331581.6_Missense_Mutation_p.R391Q|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.R362Q(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)		TTCACCTGCTCGGGAATCTGT	0.552																																						uc001ppi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1084-1086)CGA>CAA		immunoglobulin superfamily, member 4D isoform 1							83.0	75.0	78.0					11																	115049489		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.chr11:115049489C>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.1085G>A	11.37:g.115049489C>T	ENSP00000395359:p.Arg362Gln					CADM1_uc001ppf.3_Missense_Mutation_p.R334Q|CADM1_uc001ppk.3_Missense_Mutation_p.R334Q|CADM1_uc001ppj.3_Missense_Mutation_p.R363Q|CADM1_uc001pph.3_Missense_Mutation_p.R125Q	p.R362Q	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1214	-	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)	362			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.1085G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170015	0.38315	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	T;T;T;T;T	0.71934	-0.61;-0.0;0.24;-0.05;-0.03	5.0	5.0	0.66597	.	0.201138	0.32593	N	0.005891	T	0.57989	0.2091	L	0.48642	1.525	0.48288	D	0.99962	P;P;B;P	0.44946	0.846;0.714;0.308;0.493	B;B;B;B	0.30716	0.119;0.033;0.029;0.015	T	0.60622	-0.7227	10	0.11794	T	0.64	.	18.4828	0.90818	0.0:1.0:0.0:0.0	.	373;335;362;334	F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;CADM1_HUMAN;.	Q	334;362;373;363;293;391;47	ENSP00000439176:R334Q;ENSP00000395359:R362Q;ENSP00000439817:R373Q;ENSP00000440322:R363Q;ENSP00000329797:R391Q	ENSP00000329797:R391Q	R	-	2	0	CADM1	114554699	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.500000	0.60387	2.617000	0.88574	0.655000	0.94253	CGA		PASS	0.552	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		13	86	13	86	---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118986832	118986832	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:118986832C>G	ENST00000336702.3	+	14	2349	c.1990C>G	c.(1990-1992)Cac>Gac	p.H664D	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	663						integral component of membrane (GO:0016021)		p.H664D(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GAGCCAATCACACGATGACCT	0.587																																						uc001pvo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)CAC>GAC		transmembrane protein 24							80.0	74.0	76.0					11																	118986832		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118986832C>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		ENST00000336702.3:c.1990C>G	11.37:g.118986832C>G	ENSP00000338885:p.His664Asp					C2CD2L_uc001pvn.2_Missense_Mutation_p.H664D	p.H663D	NM_014807	NP_055622	O14523	C2C2L_HUMAN			14	2346	+			663					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000336702.3	37	c.1987C>G	CCDS8413.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824442	0.90955	.	.	ENSG00000172375	ENST00000336702	T	0.56776	0.44	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75291	-0.3369	10	0.87932	D	0	-10.1125	17.918	0.88958	0.0:1.0:0.0:0.0	.	663;664	O14523;O14523-2	C2C2L_HUMAN;.	D	664	ENSP00000338885:H664D	ENSP00000338885:H664D	H	+	1	0	C2CD2L	118492042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.124000	0.77185	2.693000	0.91896	0.655000	0.94253	CAC		PASS	0.587	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		5	58	5	58	---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118986933	118986933	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:118986933C>G	ENST00000336702.3	+	14	2450	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	696						integral component of membrane (GO:0016021)		p.P697P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AATCCAAACCCAAGGCCAATG	0.587																																						uc001pvo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2086-2088)CCC>CCG		transmembrane protein 24							81.0	81.0	81.0					11																	118986933		2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118986933C>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		ENST00000336702.3:c.2091C>G	11.37:g.118986933C>G						C2CD2L_uc001pvn.2_Silent_p.P697P	p.P696P	NM_014807	NP_055622	O14523	C2C2L_HUMAN			14	2447	+			696					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000336702.3	37	c.2088C>G	CCDS8413.1																																																																																				PASS	0.587	C2CD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388197.2	NM_014807		7	46	7	46	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535989	119535989	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:119535989G>A	ENST00000264025.3	-	6	1552	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	341					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.S341F(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)		TTCGGGAGGAGACGGGGTGTA	0.662																																						uc001pwv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)TCT>TTT		poliovirus receptor-related 1 isoform 1							19.0	23.0	21.0					11																	119535989		2197	4291	6488	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.chr11:119535989G>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.1022C>T	11.37:g.119535989G>A	ENSP00000264025:p.Ser341Phe					PVRL1_uc001pwu.1_Intron	p.S341F	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1194	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	341			Extracellular (Potential).		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1022C>T	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	13.04	2.118357	0.37339	.	.	ENSG00000110400	ENST00000264025	T	0.77098	-1.07	4.32	4.32	0.51571	Immunoglobulin-like fold (1);	0.641465	0.14479	N	0.317080	T	0.66107	0.2756	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41813	0.367	T	0.62690	-0.6801	10	0.09590	T	0.72	.	16.1855	0.81948	0.0:0.0:1.0:0.0	.	341	Q15223	PVRL1_HUMAN	F	341	ENSP00000264025:S341F	ENSP00000264025:S341F	S	-	2	0	PVRL1	119041199	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.366000	0.66122	2.108000	0.64289	0.479000	0.44913	TCT		PASS	0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			20	42	20	42	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129800974	129800974	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr11:129800974C>T	ENST00000360871.3	-	11	1698	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	PRDM10_ENST00000526082.1_Silent_p.E403E|PRDM10_ENST00000423662.2_Silent_p.E403E|PRDM10_ENST00000358825.5_Silent_p.E489E|PRDM10_ENST00000304538.6_Silent_p.E403E|PRDM10_ENST00000528746.1_Silent_p.E463E	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	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)|methyltransferase activity (GO:0008168)	p.E489E(1)		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)		GCACCACGCTCTCTTCATGCT	0.617																																						uc001qfm.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1465-1467)GAG>GAA		PR domain containing 10 isoform 1							165.0	151.0	156.0					11																	129800974		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129800974C>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.1467G>A	11.37:g.129800974C>T						PRDM10_uc001qfj.2_Silent_p.E403E|PRDM10_uc001qfk.2_Silent_p.E403E|PRDM10_uc001qfl.2_Silent_p.E403E|PRDM10_uc010sbx.1_Silent_p.E403E|PRDM10_uc001qfn.2_Silent_p.E489E|PRDM10_uc009zct.1_Silent_p.E521E	p.E489E	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	11	1699	-	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)	489					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1467G>A	CCDS8484.1																																																																																				PASS	0.617	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		46	60	46	60	---	---	---	---
CCDC77	84318	broad.mit.edu	37	12	521043	521043	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:521043G>C	ENST00000239830.4	+	4	348	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	CCDC77_ENST00000412006.2_Missense_Mutation_p.E25Q|CCDC77_ENST00000422000.1_Missense_Mutation_p.E25Q|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Missense_Mutation_p.E25Q	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	57						centrosome (GO:0005813)|membrane (GO:0016020)		p.E57Q(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TCCTTCTAAGGAGCTCCTGGA	0.498																																						uc001qig.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAG>CAG		coiled-coil domain containing 77 isoform a							95.0	92.0	93.0					12																	521043		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:521043G>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.169G>C	12.37:g.521043G>C	ENSP00000239830:p.Glu57Gln					CCDC77_uc009zdk.2_Missense_Mutation_p.E25Q|CCDC77_uc010sdp.1_Missense_Mutation_p.E25Q|CCDC77_uc010sdq.1_Missense_Mutation_p.E25Q	p.E57Q	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		4	349	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		57			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.169G>C	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366723	0.82463	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000535052;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59836	-0.7379	10	0.54805	T	0.06	-28.6897	19.6121	0.95610	0.0:0.0:1.0:0.0	.	57	Q9BR77	CCD77_HUMAN	Q	25;25;57;25;57;25	ENSP00000440554:E25Q;ENSP00000391870:E25Q;ENSP00000443209:E57Q;ENSP00000445873:E25Q;ENSP00000239830:E57Q;ENSP00000412925:E25Q	ENSP00000239830:E57Q	E	+	1	0	CCDC77	391304	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	8.322000	0.90000	2.732000	0.93576	0.555000	0.69702	GAG		PASS	0.498	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		31	77	31	77	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4737262	4737262	+	Missense_Mutation	SNP	C	C	A	rs545087055		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:4737262C>A	ENST00000545990.2	-	5	1330	c.806G>T	c.(805-807)cGa>cTa	p.R269L	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.R269L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					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)	p.R269L(2)		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						TTCCTGCCCTCGAAACCTCTT	0.443																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(805-807)CGA>CTA		A-kinase anchor protein 3							85.0	79.0	81.0					12																	4737262		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737262C>A	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.806G>T	12.37:g.4737262C>A	ENSP00000440994:p.Arg269Leu						p.R269L	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1035	-			269					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.806G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135417	0.06711	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11169	2.8;2.8	4.98	0.782	0.18567	A-kinase anchor 110kDa, C-terminal (1);	0.521329	0.17868	N	0.159295	T	0.11537	0.0281	M	0.63428	1.95	0.09310	N	1	P	0.38597	0.639	B	0.39590	0.304	T	0.13150	-1.0520	10	0.59425	D	0.04	-4.3144	5.2547	0.15540	0.0:0.5817:0.1461:0.2722	.	269	O75969	AKAP3_HUMAN	L	269	ENSP00000228850:R269L;ENSP00000440994:R269L	ENSP00000228850:R269L	R	-	2	0	AKAP3	4607523	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.173000	0.16724	0.020000	0.15106	-0.345000	0.07892	CGA		PASS	0.443	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		28	67	28	67	---	---	---	---
NOP2	4839	broad.mit.edu	37	12	6666601	6666601	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:6666601G>A	ENST00000322166.5	-	16	2118	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000541778.1_Missense_Mutation_p.S662F|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000537442.1_Missense_Mutation_p.S666F|NOP2_ENST00000399466.2_Missense_Mutation_p.S662F|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.S699F|IFFO1_ENST00000336604.4_5'Flank	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	666					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)	p.S662F(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTTTGTGACAGAAGGTACAGT	0.527																																						uc001qph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1984-1986)TCT>TTT		nucleolar protein 1, 120kDa							146.0	143.0	144.0					12																	6666601		2063	4215	6278	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6666601G>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.1997C>T	12.37:g.6666601G>A	ENSP00000313272:p.Ser666Phe					IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.S662F|NOP2_uc001qpj.1_Missense_Mutation_p.S91F	p.S662F	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			16	2165	-			666					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.1985C>T	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993829	0.35131	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.16597	2.34;2.33;2.34;2.34;2.34	4.47	3.58	0.41010	.	0.869731	0.09772	N	0.757898	T	0.20333	0.0489	L	0.32530	0.975	0.20074	N	0.999937	P;P	0.43169	0.8;0.755	B;P	0.48141	0.365;0.568	T	0.15665	-1.0429	10	0.37606	T	0.19	-2.4244	10.5269	0.44954	0.0:0.2134:0.7866:0.0	.	666;662	P46087;P46087-2	NOP2_HUMAN;.	F	666;699;662;666;662	ENSP00000444437:S666F;ENSP00000371858:S699F;ENSP00000382392:S662F;ENSP00000313272:S666F;ENSP00000443150:S662F	ENSP00000313272:S666F	S	-	2	0	NOP2	6536862	0.732000	0.28121	0.003000	0.11579	0.013000	0.08279	1.647000	0.37260	1.218000	0.43458	0.650000	0.86243	TCT		PASS	0.527	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		14	108	14	108	---	---	---	---
ING4	51147	broad.mit.edu	37	12	6761577	6761577	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:6761577C>G	ENST00000396807.4	-	6	546	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	ING4_ENST00000444704.2_Missense_Mutation_p.E146Q|ING4_ENST00000341550.4_Missense_Mutation_p.E169Q|ING4_ENST00000486287.1_Intron|ING4_ENST00000423703.2_Intron|ING4_ENST00000412586.2_Missense_Mutation_p.E167Q|ING4_ENST00000446105.2_Missense_Mutation_p.E166Q	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	170					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E169Q(1)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						ATCCCATACTCAGGACTTCTG	0.522																																						uc001qpw.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(508-510)GAG>CAG		inhibitor of growth family, member 4 isoform 9							154.0	138.0	143.0					12																	6761577		2203	4300	6503	SO:0001583	missense	51147				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	g.chr12:6761577C>G	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.508G>C	12.37:g.6761577C>G	ENSP00000380024:p.Glu170Gln					ING4_uc001qpv.3_Missense_Mutation_p.E169Q|ING4_uc001qpy.3_Missense_Mutation_p.E166Q|ING4_uc001qpx.3_Missense_Mutation_p.E167Q|ING4_uc009zes.2_Intron|ING4_uc009zet.2_Missense_Mutation_p.E146Q|ING4_uc009zeu.2_Intron|ING4_uc009zev.2_RNA	p.E170Q	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN			6	549	-			170					A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	ENST00000396807.4	37	c.508G>C	CCDS44813.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300075	0.40694	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000412586	T;T;T;T;T	0.44482	1.0;0.92;1.02;0.92;0.92	4.78	4.78	0.61160	Zinc finger, FYVE/PHD-type (1);	0.058699	0.64402	D	0.000003	T	0.40909	0.1136	L	0.52126	1.63	0.80722	D	1	B;B;B;B;B	0.25809	0.018;0.13;0.135;0.055;0.079	B;B;B;B;B	0.30029	0.008;0.11;0.071;0.01;0.051	T	0.21965	-1.0230	10	0.19590	T	0.45	-12.0065	18.0136	0.89232	0.0:1.0:0.0:0.0	.	146;166;167;170;169	Q9UNL4-3;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;ING4_HUMAN;.	Q	169;170;166;146;167	ENSP00000343396:E169Q;ENSP00000380024:E170Q;ENSP00000415903:E166Q;ENSP00000397343:E146Q;ENSP00000412705:E167Q	ENSP00000343396:E169Q	E	-	1	0	ING4	6631838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.433000	0.66520	2.491000	0.84063	0.561000	0.74099	GAG		PASS	0.522	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		18	145	18	145	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7981421	7981421	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:7981421C>A	ENST00000543909.1	-	11	1383	c.624G>T	c.(622-624)tgG>tgT	p.W208C	SLC2A14_ENST00000542546.1_Missense_Mutation_p.W99C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.W185C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.W208C|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.W223C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.W99C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.W185C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	208					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)	p.W208C(1)		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)		ATAGCACCGGCCATAGCTCTT	0.443																																						uc001qtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)TGG>TGT		glucose transporter 14							128.0	117.0	120.0					12																	7981421		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7981421C>A	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.624G>T	12.37:g.7981421C>A	ENSP00000440480:p.Trp208Cys					SLC2A14_uc001qtl.2_Missense_Mutation_p.W185C|SLC2A14_uc001qtm.2_Missense_Mutation_p.W185C|SLC2A14_uc010sgg.1_Missense_Mutation_p.W99C|SLC2A14_uc001qtn.2_Missense_Mutation_p.W208C|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.W223C	p.W208C	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	11	1417	-			208			Helical; Name=6; (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.624G>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952749	0.34471	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	3.92	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	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;0.999;1.0	D	0.96676	0.9500	10	0.87932	D	0	.	13.3947	0.60843	0.0:1.0:0.0:0.0	.	223;99;185;208	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	185;208;185;208;99;99;223	ENSP00000340450:W185C;ENSP00000440480:W208C;ENSP00000407287:W185C;ENSP00000379834:W208C;ENSP00000440492:W99C;ENSP00000443903:W99C;ENSP00000445929:W223C	ENSP00000340450:W185C	W	-	3	0	SLC2A14	7872688	1.000000	0.71417	0.727000	0.30756	0.019000	0.09904	6.908000	0.75730	1.722000	0.51474	0.460000	0.39030	TGG		PASS	0.443	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		49	83	49	83	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14943483	14943483	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:14943483G>A	ENST00000261167.2	-	10	1449	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	406	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)	p.P406S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCTGGCATGGGAGGTGCTTGT	0.577																																						uc001rci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1216-1218)CCC>TCC		WW domain binding protein 11							136.0	122.0	127.0					12																	14943483		2203	4300	6503	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14943483G>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1216C>T	12.37:g.14943483G>A	ENSP00000261167:p.Pro406Ser						p.P406S	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			10	1377	-			406			Pro-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.1216C>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495749	0.64186	.	.	ENSG00000084463	ENST00000261167	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	L	0.54323	1.7	0.80722	D	1	D	0.57571	0.98	D	0.70227	0.968	T	0.69935	-0.5010	9	0.51188	T	0.08	-3.3882	13.3511	0.60603	0.0:0.0:1.0:0.0	.	406	Q9Y2W2	WBP11_HUMAN	S	406	.	ENSP00000261167:P406S	P	-	1	0	WBP11	14834750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.528000	0.45624	2.532000	0.85374	0.655000	0.94253	CCC		PASS	0.577	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		53	106	53	106	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18576938	18576938	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:18576938C>T	ENST00000266497.5	+	16	2384	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	PIK3C2G_ENST00000433979.1_Silent_p.S782S|PIK3C2G_ENST00000538779.1_Silent_p.S823S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	782	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)	p.S782S(2)		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)				TCCACCGCTCCTTGCAGAGCA	0.428																																						uc001rdt.2																			2	Substitution - coding silent(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(2344-2346)TCC>TCT		phosphoinositide-3-kinase, class 2 gamma							73.0	69.0	70.0					12																	18576938		1881	4126	6007	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.chr12:18576938C>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.2346C>T	12.37:g.18576938C>T						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.S823S|PIK3C2G_uc010sic.1_Silent_p.S601S	p.S782S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			17	2462	+		Hepatocellular(102;0.194)	782					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.2346C>T	CCDS44839.1																																																																																				PASS	0.428	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		9	19	9	19	---	---	---	---
ASUN	55726	broad.mit.edu	37	12	27081799	27081799	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:27081799G>A	ENST00000261191.7	-	4	876	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	ASUN_ENST00000539625.1_Missense_Mutation_p.R13W	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	114					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)		p.R114W(1)									GGATCTGCCCGAGGATTAGGA	0.433																																						uc001rhk.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(340-342)CGG>TGG		hypothetical protein LOC55726							53.0	51.0	52.0					12																	27081799		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27081799G>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.340C>T	12.37:g.27081799G>A	ENSP00000261191:p.Arg114Trp					C12orf11_uc010sjk.1_Missense_Mutation_p.R13W	p.R114W	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			4	877	-	Colorectal(261;0.0847)		114					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.340C>T	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162622	0.78226	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548;ENST00000537336	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.16	2.27	0.28462	.	0.297923	0.37437	N	0.002098	T	0.44993	0.1320	L	0.44542	1.39	0.52501	D	0.999957	B	0.11235	0.004	B	0.06405	0.002	T	0.33266	-0.9875	10	0.66056	D	0.02	-9.0404	6.5776	0.22575	0.1508:0.0:0.7057:0.1435	.	114	Q9NVM9	M89BB_HUMAN	W	114;13;13;114;114	ENSP00000261191:R114W;ENSP00000443724:R13W;ENSP00000448467:R13W;ENSP00000446183:R114W;ENSP00000443066:R114W	ENSP00000261191:R114W	R	-	1	2	C12orf11	26973066	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.958000	0.70330	0.263000	0.21812	0.591000	0.81541	CGG		PASS	0.433	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		6	49	6	49	---	---	---	---
ABCD2	225	broad.mit.edu	37	12	40001441	40001441	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:40001441C>A	ENST00000308666.3	-	3	1331	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	399	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)	p.G399V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGCATCAGCTCCAGAGGCCAG	0.328																																						uc001rmb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(1195-1197)GGA>GTA		ATP-binding cassette, sub-family D, member 2							95.0	99.0	98.0					12																	40001441		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.chr12:40001441C>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.1196G>T	12.37:g.40001441C>A	ENSP00000310688:p.Gly399Val						p.G399V	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			3	1622	-			399			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1196G>T	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500873	0.64298	.	.	ENSG00000173208	ENST00000308666	D	0.96073	-3.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.94285	0.8164	L	0.58101	1.795	0.80722	D	1	P	0.38582	0.638	B	0.38327	0.271	D	0.93307	0.6681	9	.	.	.	-23.7657	19.425	0.94737	0.0:1.0:0.0:0.0	.	399	Q9UBJ2	ABCD2_HUMAN	V	399	ENSP00000310688:G399V	.	G	-	2	0	ABCD2	38287708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.984000	0.49353	2.584000	0.87258	0.563000	0.77884	GGA		PASS	0.328	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		38	91	38	91	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46322405	46322405	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:46322405G>A	ENST00000369367.3	-	11	1312	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	SCAF11_ENST00000419565.2_Missense_Mutation_p.S360F|SCAF11_ENST00000465950.1_Missense_Mutation_p.S45F|SCAF11_ENST00000549162.1_Missense_Mutation_p.S168F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	360					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)	p.S360F(1)		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						CTCAGCTGAAGAGGGAACACT	0.443																																						uc001rox.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)TCT>TTT		splicing factor, arginine/serine-rich 2,							148.0	147.0	148.0					12																	46322405		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322405G>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.1079C>T	12.37:g.46322405G>A	ENSP00000358374:p.Ser360Phe					SFRS2IP_uc001row.2_Missense_Mutation_p.S45F|SFRS2IP_uc001roy.1_Missense_Mutation_p.S434F	p.S360F	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	1366	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	360					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1079C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697653	0.68386	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.54279	1.23;1.96;1.22;1.96;0.58	6.07	6.07	0.98685	.	0.178851	0.40385	N	0.001106	T	0.58163	0.2103	L	0.27053	0.805	0.24879	N	0.992234	D;D	0.76494	0.999;0.994	D;P	0.69479	0.964;0.87	T	0.55515	-0.8129	10	0.72032	D	0.01	-8.3407	11.8321	0.52301	0.0:0.1304:0.7345:0.1351	.	168;360	F8VXG7;Q99590	.;SCAFB_HUMAN	F	45;360;168;360;300	ENSP00000449812:S45F;ENSP00000358374:S360F;ENSP00000448864:S168F;ENSP00000413036:S360F;ENSP00000446746:S300F	ENSP00000358374:S360F	S	-	2	0	SCAF11	44608672	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.091000	0.50199	2.890000	0.99128	0.585000	0.79938	TCT		PASS	0.443	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		47	133	47	133	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444670	49444670	+	Splice_Site	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:49444670T>A	ENST00000301067.7	-	10	2795	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	932	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)	p.P932P(1)									TCCCCTTACCTGGTGGCATCA	0.537																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		1	Substitution - coding silent(1)		lung(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2794-2796)CCA>CCT		myeloid/lymphoid or mixed-lineage leukemia 2							66.0	70.0	69.0					12																	49444670		2027	4181	6208	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444670T>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.2797+1A>T	12.37:g.49444670T>A		HNSCC(34;0.089)					p.P932P	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2796	-			932	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.2796A>T	CCDS44873.1																																																																																				PASS	0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Silent	33	76	33	76	---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52841347	52841347	+	Missense_Mutation	SNP	C	C	T	rs369418982	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:52841347C>T	ENST00000252252.3	-	8	1482	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	479	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E479K(1)		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)		CCAACGCCTTCGCCATTCAGC	0.552													C|||	3	0.000599042	0.0	0.0	5008	,	,		22490	0.0		0.001	False		,,,				2504	0.002					uc001sak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1435-1437)GAA>AAA		keratin 6B		C	LYS/GLU	1,4405		0,1,2202	141.0	110.0	120.0		1435	2.9	1.0	12		120	0,8600		0,0,4300	no	missense	KRT6B	NM_005555.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	479/565	52841347	1,13005	2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841347C>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.1435G>A	12.37:g.52841347C>T	ENSP00000252252:p.Glu479Lys						p.E479K	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	8	1483	-			479			Tail.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1435G>A	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546388	0.45383	2.27E-4	0.0	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.86164	-2.08	2.93	2.93	0.34026	.	0.000000	0.56097	D	0.000026	D	0.93154	0.7820	M	0.91090	3.175	0.38261	D	0.941888	D	0.89917	1.0	D	0.64877	0.93	D	0.94314	0.7548	10	0.87932	D	0	.	10.0312	0.42101	0.0:0.896:0.0:0.104	.	479	P04259	K2C6B_HUMAN	K	479;439	ENSP00000252252:E479K	ENSP00000252252:E479K	E	-	1	0	KRT6B	51127614	0.956000	0.32656	0.991000	0.47740	0.227000	0.25037	5.082000	0.64450	1.971000	0.57363	0.305000	0.20034	GAA		PASS	0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		41	69	41	69	---	---	---	---
KRT8	3856	broad.mit.edu	37	12	53292299	53292299	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:53292299C>T	ENST00000552551.1	-	8	1639	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	KRT8_ENST00000552150.1_Missense_Mutation_p.E431K|KRT8_ENST00000546897.1_Missense_Mutation_p.E403K|KRT8_ENST00000293308.6_Missense_Mutation_p.E403K			P05787	K2C8_HUMAN	keratin 8	403	Tail.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)	p.E403K(1)		endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	ATCCCAGACTCCAGCCTGTAC	0.617																																						uc001sbd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1207-1209)GAG>AAG		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						38.0	38.0	38.0					12																	53292299		2203	4300	6503	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292299C>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1207G>A	12.37:g.53292299C>T	ENSP00000447566:p.Glu403Lys					KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.E431K|KRT8_uc009zml.1_Missense_Mutation_p.E403K|KRT8_uc009zmm.1_Missense_Mutation_p.E403K	p.E403K	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	7	1310	-			403			Tail.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1207G>A	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521159	0.27211	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	T;T;T;T	0.81163	-1.39;-1.39;-1.39;-1.46	4.32	4.32	0.51571	.	0.172262	0.49305	D	0.000153	T	0.82144	0.4973	M	0.77820	2.39	0.43761	D	0.996276	P;B	0.37101	0.582;0.092	B;B	0.40506	0.331;0.128	T	0.83281	-0.0038	10	0.41790	T	0.15	.	15.0883	0.72174	0.0:1.0:0.0:0.0	.	431;403	F8VXB4;P05787	.;K2C8_HUMAN	K	403;403;403;431	ENSP00000447566:E403K;ENSP00000293308:E403K;ENSP00000447402:E403K;ENSP00000449404:E431K	ENSP00000293308:E403K	E	-	1	0	KRT8	51578566	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	2.728000	0.47319	2.320000	0.78422	0.561000	0.74099	GAG		PASS	0.617	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		7	36	7	36	---	---	---	---
PFDN5	5204	broad.mit.edu	37	12	53691675	53691675	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:53691675C>A	ENST00000551018.1	+	4	526	c.249C>A	c.(247-249)ctC>ctA	p.L83L	PFDN5_ENST00000351500.3_Silent_p.L38L|C12orf10_ENST00000267103.5_5'Flank|C12orf10_ENST00000548632.1_5'Flank|C12orf10_ENST00000549488.1_5'Flank|PFDN5_ENST00000550846.1_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Silent_p.L83L	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	83					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.L83L(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						AACACGTGCTCATCGATGTGG	0.507																																						uc001scl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(247-249)CTC>CTA		prefoldin subunit 5 isoform alpha							187.0	172.0	177.0					12																	53691675		2203	4300	6503	SO:0001819	synonymous_variant	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53691675C>A	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.249C>A	12.37:g.53691675C>A						PFDN5_uc001scm.2_Silent_p.L38L|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank	p.L83L	NM_002624	NP_002615	Q99471	PFD5_HUMAN			4	366	+			83					A8K9A8|Q54AA8|Q9C083|Q9C084	Silent	SNP	ENST00000551018.1	37	c.249C>A	CCDS8853.1																																																																																				PASS	0.507	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			11	146	11	146	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559219	56559219	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:56559219C>T	ENST00000267064.4	-	26	3108	c.3022G>A	c.(3022-3024)Ggc>Agc	p.G1008S	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G1039S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G1039S|SMARCC2_ENST00000394023.3_Missense_Mutation_p.G1039S	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1008	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)	p.G1008S(2)		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)			TCAGAAGGGCCCAAACTTCCT	0.667																																						uc001skb.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(3022-3024)GGC>AGC		SWI/SNF-related matrix-associated							18.0	19.0	19.0					12																	56559219		2197	4285	6482	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.chr12:56559219C>T	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.3022G>A	12.37:g.56559219C>T	ENSP00000267064:p.Gly1008Ser					SMARCC2_uc001skd.2_Missense_Mutation_p.G1039S|SMARCC2_uc001ska.2_Missense_Mutation_p.G1039S|SMARCC2_uc001skc.2_Missense_Mutation_p.G1038S|SMARCC2_uc010sqf.1_Missense_Mutation_p.G928S	p.G1008S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		26	3128	-			1008			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.3022G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915739	0.52546	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.43688	0.94;1.01;0.94	4.34	4.34	0.51931	.	0.000000	0.45126	D	0.000382	T	0.29588	0.0738	N	0.22421	0.69	0.33695	D	0.613763	B;B;B;B;B	0.27351	0.062;0.176;0.11;0.11;0.176	B;B;B;B;B	0.25405	0.027;0.06;0.027;0.039;0.06	T	0.32666	-0.9898	10	0.21014	T	0.42	-12.787	16.2102	0.82150	0.0:1.0:0.0:0.0	.	928;1039;1043;1008;1039	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	S	1039;1039;1039;1008	ENSP00000449396:G1039S;ENSP00000302919:G1039S;ENSP00000267064:G1008S	ENSP00000267064:G1008S	G	-	1	0	SMARCC2	54845486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.416000	0.44644	2.451000	0.82905	0.650000	0.86243	GGC		PASS	0.667	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			4	48	4	48	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56721407	56721407	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:56721407C>T	ENST00000425394.2	-	6	1036	c.660G>A	c.(658-660)ctG>ctA	p.L220L	PAN2_ENST00000548043.1_Silent_p.L220L|PAN2_ENST00000440411.3_Silent_p.L220L|PAN2_ENST00000257931.5_Silent_p.L220L	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)	p.L220L(1)		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)	GGAGGTCTCTCAGGGAAACCT	0.453																																						uc001skx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(658-660)CTG>CTA		PAN2 polyA specific ribonuclease subunit homolog							60.0	63.0	62.0					12																	56721407		2203	4300	6503	SO:0001819	synonymous_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.chr12:56721407C>T	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.660G>A	12.37:g.56721407C>T						PAN2_uc001skz.2_Silent_p.L220L|PAN2_uc001sky.2_Silent_p.L220L	p.L220L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			6	1033	-			220						Silent	SNP	ENST00000425394.2	37	c.660G>A	CCDS44922.1																																																																																				PASS	0.453	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		18	91	18	91	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56737278	56737278	+	Silent	SNP	C	C	T	rs372474228		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:56737278C>T	ENST00000314128.4	-	24	2474	c.2451G>A	c.(2449-2451)ccG>ccA	p.P817P	STAT2_ENST00000557235.1_Silent_p.P813P|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	817					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)	p.P817P(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GGTCACCATTCGGCATGATTT	0.512																																						uc001slc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(2449-2451)CCG>CCA		signal transducer and activator of transcription		C	,	1,4405	2.1+/-5.4	0,1,2202	124.0	94.0	104.0		2451,2439	-5.5	0.0	12		104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STAT2	NM_005419.3,NM_198332.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	817/852,813/848	56737278	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:56737278C>T	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.2451G>A	12.37:g.56737278C>T						STAT2_uc001slb.2_Silent_p.P359P|STAT2_uc001sld.2_Silent_p.P813P	p.P817P	NM_005419	NP_005410	P52630	STAT2_HUMAN			24	2529	-			817					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	c.2451G>A	CCDS8917.1																																																																																				PASS	0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		16	79	16	79	---	---	---	---
PRIM1	5557	broad.mit.edu	37	12	57127988	57127988	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:57127988C>G	ENST00000338193.6	-	12	1222	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	396					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.E396Q(1)		kidney(1)|lung(6)|prostate(1)	8						AGAAAATGTTCAAAAACTTTC	0.323																																						uc001smd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)GAA>CAA		DNA primase polypeptide 1							78.0	77.0	77.0					12																	57127988		1810	4067	5877	SO:0001583	missense	5557				DNA replication, synthesis of RNA primer|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	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57127988C>G	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1186G>C	12.37:g.57127988C>G	ENSP00000350491:p.Glu396Gln						p.E396Q	NM_000946	NP_000937	P49642	PRI1_HUMAN			12	1250	-			396						Missense_Mutation	SNP	ENST00000338193.6	37	c.1186G>C	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252923	0.22965	.	.	ENSG00000198056	ENST00000537418;ENST00000338193	T	0.46063	0.88	5.25	4.36	0.52297	.	0.050022	0.85682	D	0.000000	T	0.34077	0.0885	L	0.33339	1.005	0.50171	D	0.99985	P	0.41498	0.752	B	0.42959	0.403	T	0.05068	-1.0908	10	0.22109	T	0.4	-24.381	11.9938	0.53189	0.0:0.9149:0.0:0.0851	.	396	P49642	PRI1_HUMAN	Q	403;396	ENSP00000350491:E396Q	ENSP00000350491:E396Q	E	-	1	0	PRIM1	55414255	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	6.560000	0.73950	1.386000	0.46466	-0.236000	0.12185	GAA		PASS	0.323	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946		9	73	9	73	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64816962	64816962	+	Splice_Site	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:64816962G>T	ENST00000332707.5	+	11	1649	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	374	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.A374S(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)		TTATTCTTAGGCAATCATGTT	0.274																																						uc001ssb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1120-1122)GCA>TCA		tRNA exportin							36.0	40.0	39.0					12																	64816962		2201	4283	6484	SO:0001630	splice_region_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64816962G>T	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.1120-1G>T	12.37:g.64816962G>T							p.A374S	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	11	1546	+			374			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1120G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091864	0.36952	.	.	ENSG00000184575	ENST00000332707	T	0.66099	-0.19	4.95	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.049932	0.85682	D	0.000000	T	0.51686	0.1689	L	0.43152	1.355	0.80722	D	1	B	0.26744	0.158	B	0.20767	0.031	T	0.46373	-0.9196	9	.	.	.	.	13.6243	0.62155	0.0754:0.0:0.9246:0.0	.	374	O43592	XPOT_HUMAN	S	374	ENSP00000327821:A374S	.	A	+	1	0	XPOT	63103229	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.815000	0.86186	1.233000	0.43693	0.650000	0.86243	GCA		PASS	0.274	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	Missense_Mutation	9	71	9	71	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64828360	64828360	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:64828360G>C	ENST00000332707.5	+	20	3055	c.2526G>C	c.(2524-2526)caG>caC	p.Q842H		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	842	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)	p.Q842H(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)		CAATTGCACAGAAAACATGTT	0.358																																						uc001ssb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2524-2526)CAG>CAC		tRNA exportin							110.0	110.0	110.0					12																	64828360		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64828360G>C	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.2526G>C	12.37:g.64828360G>C	ENSP00000327821:p.Gln842His						p.Q842H	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	20	2952	+			842			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.2526G>C	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036019	0.75617	.	.	ENSG00000184575	ENST00000332707	T	0.67171	-0.25	5.2	4.31	0.51392	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.60455	1.87	0.80722	D	1	P	0.49185	0.92	B	0.40066	0.318	T	0.64002	-0.6509	9	.	.	.	.	14.1232	0.65203	0.0727:0.0:0.9273:0.0	.	842	O43592	XPOT_HUMAN	H	842	ENSP00000327821:Q842H	.	Q	+	3	2	XPOT	63114627	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.538000	0.73852	1.365000	0.46057	0.555000	0.69702	CAG		PASS	0.358	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		20	115	20	115	---	---	---	---
MYF5	4617	broad.mit.edu	37	12	81111177	81111177	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:81111177C>A	ENST00000228644.3	+	1	487	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	112	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.T112N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGTACCACGACCAACCCCAAC	0.592																																						uc001szg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)ACC>AAC		myogenic factor 5							77.0	72.0	74.0					12																	81111177		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.chr12:81111177C>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.335C>A	12.37:g.81111177C>A	ENSP00000228644:p.Thr112Asn						p.T112N	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	470	+			112			Helix-loop-helix motif.		Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.335C>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956932	0.53293	.	.	ENSG00000111049	ENST00000228644	D	0.98028	-4.67	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.145914	0.64402	D	0.000009	D	0.95689	0.8598	L	0.37697	1.125	0.46631	D	0.99913	B	0.27910	0.193	B	0.31390	0.129	D	0.93227	0.6614	10	0.42905	T	0.14	-16.3297	16.8219	0.85748	0.0:0.8717:0.1283:0.0	.	112	P13349	MYF5_HUMAN	N	112	ENSP00000228644:T112N	ENSP00000228644:T112N	T	+	2	0	MYF5	79635308	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.637000	0.61346	2.882000	0.98803	0.655000	0.94253	ACC		PASS	0.592	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		25	122	25	122	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97151357	97151357	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:97151357A>T	ENST00000524981.4	+	58	8054	c.8031A>T	c.(8029-8031)ttA>ttT	p.L2677F				Q96N23	CL055_HUMAN		0								p.L1102F(1)									GATCACCATTAACACTTAAGG	0.313																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(3304-3306)TTA>TTT		hypothetical protein LOC374467							44.0	44.0	44.0					12																	97151357		2200	4296	6496	SO:0001583	missense	374467							g.chr12:97151357A>T																												ENST00000524981.4:c.8031A>T	12.37:g.97151357A>T	ENSP00000431759:p.Leu2677Phe						p.L1102F	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			25	3384	+			1102						Missense_Mutation	SNP	ENST00000524981.4	37	c.3306A>T		.	.	.	.	.	.	.	.	.	.	A	10.54	1.379436	0.24944	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.2	1.35	0.21983	.	0.688080	0.11381	N	0.569789	T	0.28067	0.0692	L	0.36672	1.1	0.09310	N	1	B	0.24368	0.102	B	0.23852	0.049	T	0.30937	-0.9961	9	0.54805	T	0.06	-0.7756	1.5499	0.02572	0.5559:0.144:0.161:0.1391	.	1102	Q6ZTY8	CL063_HUMAN	F	2677;1102	.	ENSP00000345466:L1102F	L	+	3	2	C12orf63	95675488	0.014000	0.17966	0.000000	0.03702	0.002000	0.02628	1.711000	0.37930	0.114000	0.18032	-0.321000	0.08615	TTA		PASS	0.313	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			3	26	3	26	---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98921682	98921682	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:98921682G>A	ENST00000556029.1	+	2	654	c.298G>A	c.(298-300)Gat>Aat	p.D100N	TMPO_ENST00000261210.5_Missense_Mutation_p.D100N|TMPO_ENST00000343315.5_Missense_Mutation_p.D100N|TMPO_ENST00000266732.4_Missense_Mutation_p.D100N|TMPO_ENST00000393053.2_Missense_Mutation_p.D100N	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	100	Linker.|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)	p.D100N(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAAAAAACTGATAAACCCAG	0.343																																						uc001tfj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(298-300)GAT>AAT		thymopoietin isoform beta							144.0	142.0	143.0					12																	98921682		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98921682G>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.298G>A	12.37:g.98921682G>A	ENSP00000450627:p.Asp100Asn					TMPO_uc001tfi.1_Missense_Mutation_p.D100N|TMPO_uc001tfk.2_Missense_Mutation_p.D100N|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D100N	p.D100N	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN			2	535	+			100			Linker.|Nucleoplasmic (Potential).		A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.298G>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797154	0.90538	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.76839	0.14;0.2;1.48;-0.24;-0.87;-1.05	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.71206	2.165	0.80722	D	1	D;P;D;D	0.89917	0.999;0.866;1.0;0.997	D;P;D;D	0.83275	0.991;0.662;0.996;0.983	D	0.87855	0.2660	10	0.49607	T	0.09	.	17.0938	0.86628	0.0:0.0:1.0:0.0	.	133;100;100;100	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	N	100;100;100;100;100;7	ENSP00000450627:D100N;ENSP00000340251:D100N;ENSP00000266732:D100N;ENSP00000376773:D100N;ENSP00000261210:D100N;ENSP00000451552:D7N	ENSP00000261210:D100N	D	+	1	0	TMPO	97445813	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.477000	0.90424	2.131000	0.65755	0.591000	0.81541	GAT		PASS	0.343	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		17	109	17	109	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104134531	104134531	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:104134531C>A	ENST00000388887.2	+	55	6082	c.5878C>A	c.(5878-5880)Cag>Aag	p.Q1960K		NM_017564.9	NP_060034.9			stabilin 2									p.Q1960K(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						GCGAGACTGTCAGGGTGAGGG	0.562																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(5878-5880)CAG>AAG		stabilin 2 precursor							102.0	90.0	94.0					12																	104134531		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.chr12:104134531C>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.5878C>A	12.37:g.104134531C>A	ENSP00000373539:p.Gln1960Lys					STAB2_uc009zug.2_RNA	p.Q1960K	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			55	6064	+			1960			Extracellular (Potential).|Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.5878C>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052904	0.55218	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.84873	-1.91	5.46	5.46	0.80206	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.161299	0.42172	D	0.000750	T	0.81009	0.4734	L	0.47078	1.49	0.35661	D	0.81255	P	0.36753	0.568	B	0.32465	0.146	T	0.82667	-0.0344	10	0.24483	T	0.36	.	19.3245	0.94256	0.0:1.0:0.0:0.0	.	1960	Q8WWQ8	STAB2_HUMAN	K	1960;647	ENSP00000373539:Q1960K	ENSP00000258495:Q647K	Q	+	1	0	STAB2	102658661	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.820000	0.62671	2.549000	0.85964	0.655000	0.94253	CAG		PASS	0.562	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			17	137	17	137	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104208723	104208723	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:104208723C>T	ENST00000392876.3	-	2	425	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	129						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E54K(1)|p.E129K(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCCGGTGTTCATTGATGAGA	0.463																																						uc010swe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(385-387)GAA>AAA		5'-nucleotidase domain containing 3							159.0	150.0	153.0					12																	104208723		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104208723C>T	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.385G>A	12.37:g.104208723C>T	ENSP00000376615:p.Glu129Lys						p.E129K	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			2	426	-			129					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.385G>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547340	0.27652	.	.	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.87	5.87	0.94306	HAD-like domain (1);	0.095359	0.64402	D	0.000001	T	0.17238	0.0414	N	0.17082	0.46	0.58432	D	0.999995	B	0.16166	0.016	B	0.18871	0.023	T	0.09443	-1.0674	10	0.02654	T	1	-32.6227	20.5827	0.99408	0.0:1.0:0.0:0.0	.	129	Q86UY8	NT5D3_HUMAN	K	129	ENSP00000376615:E129K	ENSP00000376615:E129K	E	-	1	0	NT5DC3	102732853	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.609000	0.54117	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.463	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		18	155	18	155	---	---	---	---
TRPV4	59341	broad.mit.edu	37	12	110252339	110252339	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:110252339G>C	ENST00000418703.2	-	1	357	c.263C>G	c.(262-264)tCc>tGc	p.S88C	TRPV4_ENST00000536838.1_Missense_Mutation_p.S54C|TRPV4_ENST00000346520.2_Missense_Mutation_p.S88C|TRPV4_ENST00000541794.1_Missense_Mutation_p.S88C|TRPV4_ENST00000544971.1_Missense_Mutation_p.S88C|TRPV4_ENST00000392719.2_Missense_Mutation_p.S88C|TRPV4_ENST00000261740.2_Missense_Mutation_p.S88C|TRPV4_ENST00000537083.1_Missense_Mutation_p.S88C|TRPV4_ENST00000536570.1_5'Flank	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	88					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)	p.S88C(1)		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						ATATAGGGTGGACTCCAGCAG	0.602																																						uc001tpj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(262-264)TCC>TGC		transient receptor potential cation channel,							60.0	61.0	61.0					12																	110252339		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.chr12:110252339G>C	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.263C>G	12.37:g.110252339G>C	ENSP00000406191:p.Ser88Cys					TRPV4_uc001tpg.1_Missense_Mutation_p.S54C|TRPV4_uc001tph.1_Missense_Mutation_p.S88C|TRPV4_uc001tpi.1_Missense_Mutation_p.S88C|TRPV4_uc001tpk.1_Missense_Mutation_p.S88C|TRPV4_uc001tpl.1_Missense_Mutation_p.S88C	p.S88C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			1	358	-			88			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.263C>G	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993156	0.74703	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.92495	-2.9;-2.9;-2.96;-3.05;-3.01;-3.05;-2.96;-2.82	3.68	3.68	0.42216	.	0.504809	0.22093	N	0.064740	D	0.92766	0.7700	L	0.29908	0.895	0.32902	D	0.513283	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;0.99;0.997;0.997;0.995	D	0.93853	0.7147	10	0.49607	T	0.09	.	14.0043	0.64453	0.0:0.0:1.0:0.0	.	88;88;88;88;54	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	88;88;88;88;88;88;88;54	ENSP00000406191:S88C;ENSP00000261740:S88C;ENSP00000376480:S88C;ENSP00000319003:S88C;ENSP00000443611:S88C;ENSP00000442738:S88C;ENSP00000442167:S88C;ENSP00000444336:S54C	ENSP00000261740:S88C	S	-	2	0	TRPV4	108736722	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.778000	0.91785	1.615000	0.50252	0.465000	0.42564	TCC		PASS	0.602	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		11	60	11	60	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110655899	110655899	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:110655899G>A	ENST00000242591.5	+	19	2405	c.1899G>A	c.(1897-1899)atG>atA	p.M633I	IFT81_ENST00000552912.1_Missense_Mutation_p.M633I	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	633					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.M633I(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GTCCAAATATGAAACAAGCAA	0.323																																						uc001tqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1897-1899)ATG>ATA		intraflagellar transport 81-like isoform 1							103.0	94.0	97.0					12																	110655899		1833	4097	5930	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110655899G>A	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1899G>A	12.37:g.110655899G>A	ENSP00000242591:p.Met633Ile					IFT81_uc001tqh.2_Missense_Mutation_p.M633I|IFT81_uc001tqj.2_RNA	p.M633I	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			19	2029	+			633					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1899G>A	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.624348	0.46840	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	M	0.61703	1.905	0.58432	D	0.999995	B	0.23128	0.08	B	0.26202	0.067	T	0.58399	-0.7643	9	0.35671	T	0.21	-16.69	14.297	0.66321	0.0724:0.0:0.9276:0.0	.	633	Q8WYA0	IFT81_HUMAN	I	633;633;64	.	ENSP00000242591:M633I	M	+	3	0	IFT81	109140282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.301000	0.96167	1.338000	0.45544	0.579000	0.79373	ATG		PASS	0.323	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		12	104	12	104	---	---	---	---
GPN3	51184	broad.mit.edu	37	12	110893649	110893649	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:110893649C>G	ENST00000228827.3	-	5	599	c.537G>C	c.(535-537)ctG>ctC	p.L179L	GPN3_ENST00000537466.2_Silent_p.L189L|GPN3_ENST00000543199.1_Silent_p.L218L	NM_016301.3	NP_057385.3			GPN-loop GTPase 3									p.L179L(1)|p.L218L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						CTTTTTTACTCAGCAGATCCA	0.388																																						uc001tqr.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(535-537)CTG>CTC		GPN-loop GTPase 3 isoform 1							139.0	118.0	125.0					12																	110893649		2203	4300	6503	SO:0001819	synonymous_variant	51184					protein complex	GTP binding	g.chr12:110893649C>G	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.537G>C	12.37:g.110893649C>G						GPN3_uc001tqs.2_Silent_p.L189L	p.L179L	NM_016301	NP_057385	Q9UHW5	GPN3_HUMAN			5	593	-			179						Silent	SNP	ENST00000228827.3	37	c.537G>C	CCDS9147.1																																																																																				PASS	0.388	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		8	68	8	68	---	---	---	---
HPD	3242	broad.mit.edu	37	12	122281695	122281695	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:122281695G>A	ENST00000289004.4	-	12	910	c.875C>T	c.(874-876)cCc>cTc	p.P292L	HPD_ENST00000543163.1_Missense_Mutation_p.P253L	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	292					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)	p.P292L(1)		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)	GTACGTGGAGGGAACAGATAA	0.547																																						uc001ubj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(874-876)CCC>CTC		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						151.0	134.0	139.0					12																	122281695		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122281695G>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.875C>T	12.37:g.122281695G>A	ENSP00000289004:p.Pro292Leu					HPD_uc001ubk.2_Missense_Mutation_p.P253L	p.P292L	NM_002150	NP_002141	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	12	915	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		292					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.875C>T	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323916	0.60634	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70869	-0.52;-0.52	4.32	4.32	0.51571	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92443	0.5963	10	0.87932	D	0	-11.404	16.6273	0.84975	0.0:0.0:1.0:0.0	.	292	P32754	HPPD_HUMAN	L	292;289;253	ENSP00000289004:P292L;ENSP00000441677:P253L	ENSP00000289004:P292L	P	-	2	0	HPD	120766078	1.000000	0.71417	0.051000	0.19133	0.202000	0.24057	9.547000	0.98100	2.249000	0.74217	0.511000	0.50034	CCC		PASS	0.547	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		7	56	7	56	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123265748	123265748	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:123265748C>G	ENST00000253079.6	+	3	611	c.267C>G	c.(265-267)ctC>ctG	p.L89L	CCDC62_ENST00000392440.2_5'Flank|CCDC62_ENST00000537566.1_5'UTR|CCDC62_ENST00000392441.4_Silent_p.L89L	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	89					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)	p.L89L(2)		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)		TCAGGTCACTCACGAAGAAGG	0.388																																						uc001udc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(265-267)CTC>CTG		coiled-coil domain containing 62 isoform b							109.0	100.0	103.0					12																	123265748		2203	4300	6503	SO:0001819	synonymous_variant	84660					cytoplasm|nucleus		g.chr12:123265748C>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.267C>G	12.37:g.123265748C>G						CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Silent_p.L89L|CCDC62_uc001ude.2_5'UTR	p.L89L	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	3	412	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		89			Potential.		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Silent	SNP	ENST00000253079.6	37	c.267C>G	CCDS9238.1																																																																																				PASS	0.388	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		10	82	10	82	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123812522	123812522	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:123812522G>C	ENST00000602398.1	-	11	1476	c.1349C>G	c.(1348-1350)tCa>tGa	p.S450*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.S449*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.S449*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.S450*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	450					regulation of transcription, DNA-templated (GO:0006355)			p.S449*(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	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGTTGGCTTTGAAGAACCAAC	0.348																																						uc010tap.1																			1	Substitution - Nonsense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1348-1350)TCA>TGA		sno, strawberry notch homolog 1							133.0	122.0	125.0					12																	123812522		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812522G>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.1349C>G	12.37:g.123812522G>C	ENSP00000473665:p.Ser450*					SBNO1_uc010tao.1_Nonsense_Mutation_p.S449*|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Nonsense_Mutation_p.S450*|SBNO1_uc001ueu.2_Nonsense_Mutation_p.S449*|SBNO1_uc001uev.2_Nonsense_Mutation_p.S448*|SBNO1_uc009zxy.1_Nonsense_Mutation_p.S415*	p.S450*	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	10	1349	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		450					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.1349C>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	38	6.821203	0.97865	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-22.0068	19.9115	0.97026	0.0:0.0:1.0:0.0	.	.	.	.	X	450;449;449	.	ENSP00000267176:S449X	S	-	2	0	SBNO1	122378475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.809000	0.96659	0.555000	0.69702	TCA		PASS	0.348	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		15	126	15	126	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124228439	124228439	+	Silent	SNP	C	C	T	rs547299743		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:124228439C>T	ENST00000330342.3	+	10	1394	c.1146C>T	c.(1144-1146)atC>atT	p.I382I		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	382					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)	p.I382I(1)		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)		TTCAGAACATCGTGGATGCTT	0.453																																						uc001ufr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1144-1146)ATC>ATT		ATPase, H+ transporting, lysosomal V0 subunit							134.0	135.0	134.0					12																	124228439		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.chr12:124228439C>T	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.1146C>T	12.37:g.124228439C>T							p.I382I	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	10	1394	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		382			Cytoplasmic (Potential).		A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	c.1146C>T	CCDS9254.1																																																																																				PASS	0.453	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		24	197	24	197	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124289380	124289380	+	Splice_Site	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:124289380G>C	ENST00000409039.3	+	17	2451	c.2426G>C	c.(2425-2427)gGc>gCc	p.G809A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	809	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.G809D(1)|p.G627A(1)|p.G809A(1)|p.G627D(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)		TTCTCTCCAGGCGTGAAGGAA	0.478																																						uc001uft.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2425-2427)GGC>GCC		dynein, axonemal, heavy chain 10							111.0	114.0	113.0					12																	124289380		2203	4300	6503	SO:0001630	splice_region_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124289380G>C	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.2426-1G>C	12.37:g.124289380G>C						DNAH10_uc010tav.1_Missense_Mutation_p.G351A|DNAH10_uc010taw.1_Missense_Mutation_p.G294A	p.G809A	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	17	2451	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		809			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.2426G>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	4.243	0.044052	0.08196	.	.	ENSG00000197653	ENST00000409039	T	0.20463	2.07	5.56	5.56	0.83823	.	0.200709	0.28706	U	0.014403	T	0.24005	0.0581	L	0.46157	1.445	0.48571	D	0.999675	P;B;B	0.40731	0.728;0.295;0.128	B;B;B	0.42522	0.39;0.13;0.05	T	0.00972	-1.1495	9	.	.	.	.	14.7651	0.69632	0.0713:0.0:0.9287:0.0	.	809;684;809	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	A	809	ENSP00000386770:G809A	.	G	+	2	0	DNAH10	122855333	1.000000	0.71417	0.486000	0.27416	0.065000	0.16274	3.380000	0.52448	2.621000	0.88768	0.643000	0.83706	GGC		PASS	0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation	40	227	40	227	---	---	---	---
CCDC92	80212	broad.mit.edu	37	12	124422051	124422051	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:124422051G>T	ENST00000238156.3	-	5	904	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	CCDC92_ENST00000545135.1_Missense_Mutation_p.P167T|CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545891.1_Missense_Mutation_p.P167T|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	184						centriole (GO:0005814)		p.P184T(1)		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)		GCCAGCACGGGGCTCCCTGAC	0.662																																						uc001ufw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)CCC>ACC		coiled-coil domain containing 92							35.0	39.0	37.0					12																	124422051		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422051G>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.550C>A	12.37:g.124422051G>T	ENSP00000238156:p.Pro184Thr					CCDC92_uc001ufv.1_Missense_Mutation_p.P167T|CCDC92_uc001ufx.1_Missense_Mutation_p.P184T|CCDC92_uc001ufy.1_Missense_Mutation_p.P167T	p.P184T	NM_025140	NP_079416	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)	5	697	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		184					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.550C>A	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819428	0.90873	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.28069	1.63;1.66;1.66	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	M	0.78223	2.4	0.58432	D	0.999991	P	0.46142	0.873	B	0.42282	0.382	T	0.38845	-0.9642	10	0.36615	T	0.2	-3.9173	16.4526	0.83997	0.0:0.1309:0.8691:0.0	.	184	Q53HC0	CCD92_HUMAN	T	184;167;167	ENSP00000238156:P184T;ENSP00000439526:P167T;ENSP00000440024:P167T	ENSP00000238156:P184T	P	-	1	0	CCDC92	122988004	1.000000	0.71417	0.994000	0.49952	0.939000	0.58152	6.502000	0.73695	2.615000	0.88500	0.555000	0.69702	CCC		PASS	0.662	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		3	81	3	81	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132250835	132250835	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:132250835G>C	ENST00000261674.4	+	13	2265	c.2124G>C	c.(2122-2124)gaG>gaC	p.E708D	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E708D	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	708					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)	p.E708D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAATTGAGGAGAGTCCTTTCA	0.483																																						uc001uja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2122-2124)GAG>GAC		splicing factor, arginine/serine-rich 8							153.0	160.0	158.0					12																	132250835		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.chr12:132250835G>C	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.2124G>C	12.37:g.132250835G>C	ENSP00000261674:p.Glu708Asp					SFRS8_uc010tbn.1_Missense_Mutation_p.E708D|SFRS8_uc001ujb.1_Missense_Mutation_p.E501D	p.E708D	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	13	2264	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		708					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2124G>C	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.301|9.301	1.053178|1.053178	0.19907|0.19907	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|.	0.25579|.	2.86;1.79;2.87|.	5.49|5.49	-0.195|-0.195	0.13236|0.13236	.|.	0.136248|.	0.64402|.	N|.	0.000004|.	T|T	0.31606|0.31606	0.0802|0.0802	L|L	0.31926|0.31926	0.97|0.97	0.30990|0.30990	N|N	0.721542|0.721542	B;B|.	0.14805|.	0.011;0.007|.	B;B|.	0.16722|.	0.016;0.004|.	T|T	0.39210|0.39210	-0.9625|-0.9625	10|5	0.33940|.	T|.	0.23|.	-27.4178|-27.4178	7.0715|7.0715	0.25181|0.25181	0.2818:0.0:0.5995:0.1186|0.2818:0.0:0.5995:0.1186	.|.	708;708|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	D|T	708;501;708|271	ENSP00000261674:E708D;ENSP00000443045:E501D;ENSP00000437738:E708D|.	ENSP00000261674:E708D|.	E|R	+|+	3|2	2|0	SFSWAP|SFSWAP	130816788|130816788	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.791000|0.791000	0.44710|0.44710	1.814000|1.814000	0.38972|0.38972	0.263000|0.263000	0.21812|0.21812	0.591000|0.591000	0.81541|0.81541	GAG|AGA		PASS	0.483	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		22	172	22	172	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132522540	132522540	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:132522540G>A	ENST00000333577.4	+	33	6323	c.6214G>A	c.(6214-6216)Gat>Aat	p.D2072N	EP400_ENST00000389561.2_Missense_Mutation_p.D2036N|EP400_ENST00000332482.4_Missense_Mutation_p.D1999N|EP400_ENST00000330386.6_Missense_Mutation_p.D1955N|EP400_ENST00000389562.2_Missense_Mutation_p.D2035N			Q96L91	EP400_HUMAN	E1A binding protein p400	2072					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.D2035N(1)		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)		TCCCATGGATGATGCTGGCTT	0.483																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(6106-6108)GAT>AAT		E1A binding protein p400							227.0	207.0	214.0					12																	132522540		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.chr12:132522540G>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.6214G>A	12.37:g.132522540G>A	ENSP00000333602:p.Asp2072Asn					EP400_uc001ujl.2_Missense_Mutation_p.D2035N|EP400_uc001ujm.2_Missense_Mutation_p.D1955N	p.D2036N	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6141	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2072					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.6106G>A		.	.	.	.	.	.	.	.	.	.	G	12.32	1.902959	0.33628	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90844	-2.74;-2.73;-2.73;-2.74;-2.73	5.43	4.54	0.55810	.	0.050417	0.85682	D	0.000000	D	0.93171	0.7825	L	0.50333	1.59	0.43172	D	0.994974	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66351	0.943;0.943;0.943	D	0.93713	0.7026	10	0.62326	D	0.03	.	15.6382	0.76973	0.0:0.0:0.8617:0.1383	.	2036;1955;2035	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	N	2072;2036;2035;1999;1955;2036	ENSP00000333602:D2072N;ENSP00000374212:D2036N;ENSP00000374213:D2035N;ENSP00000331737:D1999N;ENSP00000330620:D1955N	ENSP00000330620:D1955N	D	+	1	0	EP400	131088493	1.000000	0.71417	0.472000	0.27241	0.238000	0.25445	9.397000	0.97276	1.268000	0.44264	0.650000	0.86243	GAT		PASS	0.483	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		59	174	59	174	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133327418	133327418	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:133327418C>G	ENST00000357997.5	-	3	747	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	ANKLE2_ENST00000337516.5_Missense_Mutation_p.E220Q|ANKLE2_ENST00000539605.1_Missense_Mutation_p.E158Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	220					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)	p.E220Q(1)|p.E220K(1)		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)		TTTTTATTTTCATAAACATAG	0.413																																						uc001ukx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(658-660)GAA>CAA		ankyrin repeat and LEM domain containing 2							91.0	91.0	91.0					12																	133327418		1843	4079	5922	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327418C>G	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.658G>C	12.37:g.133327418C>G	ENSP00000350686:p.Glu220Gln					ANKLE2_uc001uky.3_Missense_Mutation_p.E158Q	p.E220Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	725	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	220					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.658G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	10.47	1.358668	0.24598	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.32753	1.86;1.85;1.44	5.72	5.72	0.89469	Ribonuclease H1, N-terminal (1);	0.213163	0.48286	D	0.000183	T	0.38931	0.1059	M	0.73598	2.24	0.29504	N	0.854728	B;B	0.25351	0.088;0.124	B;B	0.23574	0.029;0.047	T	0.28522	-1.0041	10	0.28530	T	0.3	-13.5556	19.8807	0.96899	0.0:1.0:0.0:0.0	.	220;220	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	Q	158;220;220	ENSP00000446268:E158Q;ENSP00000350686:E220Q;ENSP00000337651:E220Q	ENSP00000337651:E220Q	E	-	1	0	ANKLE2	131837491	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.525000	0.53502	2.704000	0.92352	0.650000	0.86243	GAA		PASS	0.413	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			8	76	8	76	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133357410	133357410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr12:133357410C>A	ENST00000450791.2	-	17	3739	c.3556G>T	c.(3556-3558)Gag>Tag	p.E1186*	GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.E1186*|GOLGA3_ENST00000204726.3_Nonsense_Mutation_p.E1186*			Q08378	GOGA3_HUMAN	golgin A3	1186					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.E1186*(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)		TTCACCTTCTCCTTCTCCTTC	0.562																																						uc001ukz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3556-3558)GAG>TAG		Golgi autoantigen, golgin subfamily a, 3							150.0	138.0	142.0					12																	133357410		2203	4300	6503	SO:0001587	stop_gained	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133357410C>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.3556G>T	12.37:g.133357410C>A	ENSP00000410378:p.Glu1186*					GOLGA3_uc001ula.1_Nonsense_Mutation_p.E1186*	p.E1186*	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	18	4115	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1186			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Nonsense_Mutation	SNP	ENST00000450791.2	37	c.3556G>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	42	9.405863	0.99161	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	.	.	.	5.61	-1.79	0.07932	.	1.400230	0.04005	N	0.297230	.	.	.	.	.	.	0.32606	N	0.525209	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	2.1966	0.03913	0.1163:0.1812:0.2303:0.4723	.	.	.	.	X	1186	.	ENSP00000204726:E1186X	E	-	1	0	GOLGA3	131867483	0.005000	0.15991	0.005000	0.12908	0.017000	0.09413	0.067000	0.14510	-0.409000	0.07553	0.643000	0.83706	GAG		PASS	0.562	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		13	172	13	172	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23909195	23909195	+	Silent	SNP	T	T	C	rs370133588		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:23909195T>C	ENST00000382292.3	-	9	9093	c.8820A>G	c.(8818-8820)acA>acG	p.T2940T	SACS_ENST00000382298.3_Silent_p.T2940T|SACS_ENST00000402364.1_Silent_p.T2190T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2940					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.T2793T(1)|p.T2940T(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)		ACACTGATAATGTTGGATCAG	0.358																																						uc001uon.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8818-8820)ACA>ACG		sacsin		T		0,4406		0,0,2203	114.0	113.0	113.0		8820	-1.9	0.9	13		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SACS	NM_014363.4		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		2940/4580	23909195	1,13005	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.chr13:23909195T>C	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.8820A>G	13.37:g.23909195T>C						SACS_uc001uoo.2_Silent_p.T2793T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.T2940T	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9409	-		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)	2940					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.8820A>G	CCDS9300.2																																																																																				PASS	0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	171	5	171	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25823374	25823374	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:25823374C>T	ENST00000381801.5	-	14	2623	c.1862G>A	c.(1861-1863)tGt>tAt	p.C621Y	AL590787.1_ENST00000408397.1_RNA|MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	621					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)	p.C621Y(1)		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)		ATGAGTCTAACAAGTCATTCT	0.383																																						uc001uqf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1861-1863)TGT>TAT		myotubularin related protein 6							79.0	80.0	80.0					13																	25823374		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.chr13:25823374C>T	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.1862G>A	13.37:g.25823374C>T	ENSP00000371221:p.Cys621Tyr					MTMR6_uc001uqe.1_Intron	p.C621Y	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	14	2181	-		Lung SC(185;0.0225)|Breast(139;0.0351)	621					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1862G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530535	0.64860	.	.	ENSG00000139505	ENST00000381801;ENST00000319298	D	0.96716	-4.1	5.65	5.65	0.86999	.	0.081542	0.52532	D	0.000061	D	0.96953	0.9005	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.97451	1.0028	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	621	Q9Y217	MTMR6_HUMAN	Y	621;189	ENSP00000371221:C621Y	ENSP00000317987:C189Y	C	-	2	0	MTMR6	24721374	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.072000	0.76777	2.941000	0.99782	0.655000	0.94253	TGT		PASS	0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		35	69	35	69	---	---	---	---
URAD	646625	broad.mit.edu	37	13	28562754	28562754	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:28562754G>A	ENST00000332715.5	-	1	37	c.21C>T	c.(19-21)aaC>aaT	p.N7N	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	7					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)	p.N7N(1)									GGTCCATGGAGTTGACCTTCT	0.537																																						uc010aan.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(19-21)AAC>AAT		parahox cluster neighbor							96.0	101.0	99.0					13																	28562754		2096	4222	6318	SO:0001819	synonymous_variant	646625				allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity	g.chr13:28562754G>A		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.21C>T	13.37:g.28562754G>A							p.N7N	NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	1	21	-	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	7						Silent	SNP	ENST00000332715.5	37	c.21C>T	CCDS45020.1																																																																																				PASS	0.537	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1			19	66	19	66	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29041227	29041227	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:29041227C>T	ENST00000282397.4	-	3	452	c.201G>A	c.(199-201)gtG>gtA	p.V67V	FLT1_ENST00000541932.1_Silent_p.V67V|FLT1_ENST00000539099.1_Silent_p.V67V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	67	Ig-like C2-type 1.				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)	p.V67V(2)		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)	TTTCCTTACTCACCATTTCAG	0.448																																						uc001usb.3																			2	Substitution - coding silent(2)		lung(2)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(199-201)GTG>GTA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						186.0	173.0	178.0					13																	29041227		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:29041227C>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.201G>A	13.37:g.29041227C>T						FLT1_uc010aar.1_Silent_p.V67V|FLT1_uc001usc.3_Silent_p.V67V|FLT1_uc010tdp.1_Silent_p.V67V|FLT1_uc001usd.2_Silent_p.V67V	p.V67V	NM_002019	NP_002010	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)	3	486	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	67			Ig-like C2-type 1.|Extracellular (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.201G>A	CCDS9330.1																																																																																				PASS	0.448	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			17	131	17	131	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35733368	35733368	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:35733368C>T	ENST00000400445.3	+	22	3594	c.3060C>T	c.(3058-3060)gtC>gtT	p.V1020V	NBEA_ENST00000310336.4_Silent_p.V1020V|NBEA_ENST00000379939.2_Silent_p.V1020V|NBEA_ENST00000540320.1_Silent_p.V1020V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1020					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.V1020V(1)		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)		ATTACCCTGTCAGCACAGATA	0.423																																						uc001uvb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(3058-3060)GTC>GTT		neurobeachin							93.0	88.0	90.0					13																	35733368		1942	4150	6092	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733368C>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.3060C>T	13.37:g.35733368C>T						NBEA_uc010abi.2_5'Flank	p.V1020V	NM_015678	NP_056493	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)	23	3266	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1020					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.3060C>T	CCDS45026.1																																																																																				PASS	0.423	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	57	7	57	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41333178	41333178	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:41333178C>T	ENST00000323563.6	-	3	541	c.505G>A	c.(505-507)Gat>Aat	p.D169N		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	169						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)	p.D169N(1)		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)		GTTTGCTTATCAAAAGGGAGA	0.458																																						uc001uxm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GAT>AAT		mitochondrial ribosomal protein S31 precursor							78.0	76.0	77.0					13																	41333178		2203	4300	6503	SO:0001583	missense	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41333178C>T	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.505G>A	13.37:g.41333178C>T	ENSP00000315397:p.Asp169Asn						p.D169N	NM_005830	NP_005821	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)	3	580	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	169					B2RCS3|Q5VYC8|Q8WTV8	Missense_Mutation	SNP	ENST00000323563.6	37	c.505G>A	CCDS9372.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159520	0.38119	.	.	ENSG00000102738	ENST00000323563	T	0.33865	1.39	5.02	5.02	0.67125	.	0.144071	0.64402	D	0.000010	T	0.44993	0.1320	M	0.77486	2.375	0.31703	N	0.640471	P	0.36315	0.547	B	0.42062	0.374	T	0.54009	-0.8357	10	0.25106	T	0.35	.	14.1907	0.65637	0.0:1.0:0.0:0.0	.	169	Q92665	RT31_HUMAN	N	169	ENSP00000315397:D169N	ENSP00000315397:D169N	D	-	1	0	MRPS31	40231178	0.991000	0.36638	1.000000	0.80357	0.322000	0.28314	0.667000	0.25112	2.482000	0.83794	0.557000	0.71058	GAT		PASS	0.458	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			11	94	11	94	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48916850	48916850	+	Splice_Site	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:48916850G>T	ENST00000267163.4	+	3	518	c.380G>T	c.(379-381)aGt>aTt	p.S127I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	127					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)|p.S127I(3)		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)"""	ATAGAAATCAGGTAAAGTTTC	0.343		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)																												uc001vcb.2		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(5)|Substitution - Missense(3)	p.?(4)|p.S127I(1)	bone(10)|breast(6)|lung(3)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(379-381)AGT>ATT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						63.0	68.0	66.0					13																	48916850		2203	4299	6502	SO:0001630	splice_region_variant	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.chr13:48916850G>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.380+1G>T	13.37:g.48916850G>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.S127I	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	546	+		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)	127					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.380G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130304	0.77549	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.75154	-0.91	5.39	5.39	0.77823	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.045504	0.85682	D	0.000000	T	0.82089	0.4961	L	0.50333	1.59	0.58432	D	0.999996	D	0.76494	0.999	D	0.69142	0.962	D	0.83410	0.0027	10	0.87932	D	0	.	15.0115	0.71552	0.0:0.0:1.0:0.0	.	127	P06400	RB_HUMAN	I	106;127	ENSP00000267163:S127I	ENSP00000267163:S127I	S	+	2	0	RB1	47814851	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.264000	0.58859	2.667000	0.90743	0.603000	0.83216	AGT		PASS	0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Missense_Mutation	25	52	25	52	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99092218	99092218	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:99092218G>A	ENST00000319562.6	+	22	2702	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	FARP1_ENST00000595437.1_Missense_Mutation_p.E844K|FARP1_ENST00000376586.2_Missense_Mutation_p.E844K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	813	PH 1. {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)	p.E844K(1)|p.E813K(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)			CCCACAGATTGAGGAGAGCGA	0.627																																						uc001vnj.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2437-2439)GAG>AAG		FERM, RhoGEF, and pleckstrin domain protein 1							147.0	164.0	158.0					13																	99092218		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.chr13:99092218G>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.2437G>A	13.37:g.99092218G>A	ENSP00000322926:p.Glu813Lys					FARP1_uc001vnh.2_Missense_Mutation_p.E844K	p.E813K	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		22	2773	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		813			PH 1.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2437G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769154	0.49680	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.74842	-0.88;-0.88	4.83	3.06	0.35304	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.248102	0.41605	N	0.000855	T	0.77585	0.4152	M	0.65975	2.015	0.44652	D	0.997634	P;B	0.34815	0.47;0.108	P;B	0.46685	0.524;0.145	T	0.75897	-0.3155	10	0.72032	D	0.01	.	9.3693	0.38244	0.0794:0.1442:0.7764:0.0	.	813;844	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	844;813	ENSP00000365771:E844K;ENSP00000322926:E813K	ENSP00000322926:E813K	E	+	1	0	FARP1	97890219	0.998000	0.40836	0.502000	0.27614	0.322000	0.28314	2.925000	0.48884	0.451000	0.26802	-0.126000	0.14955	GAG		PASS	0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		44	297	44	297	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109661274	109661274	+	Missense_Mutation	SNP	G	G	T	rs185312080		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:109661274G>T	ENST00000357550.2	+	21	2447	c.2406G>T	c.(2404-2406)atG>atT	p.M802I	MYO16_ENST00000356711.2_Missense_Mutation_p.M802I|MYO16_ENST00000251041.5_Missense_Mutation_p.M802I|MYO16_ENST00000457511.2_Missense_Mutation_p.M314I	NM_001198950.1	NP_001185879.1			myosin XVI									p.M802I(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)			ATGAGAAGATGCACCACTATA	0.403																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2404-2406)ATG>ATT		myosin heavy chain Myr 8							107.0	94.0	98.0					13																	109661274		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.chr13:109661274G>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.2406G>T	13.37:g.109661274G>T	ENSP00000350160:p.Met802Ile					MYO16_uc010agk.1_Missense_Mutation_p.M824I|MYO16_uc001vqu.1_Missense_Mutation_p.M602I|MYO16_uc010tjh.1_Missense_Mutation_p.M314I	p.M802I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		22	2532	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		802			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.2406G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	1.860	-0.462766	0.04508	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54	5.78	1.63	0.23807	Myosin head, motor domain (2);	0.303702	0.23479	N	0.047733	T	0.77718	0.4172	N	0.01086	-1.025	0.35234	D	0.777144	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.66685	-0.5861	9	.	.	.	.	4.9343	0.13932	0.5855:0.1735:0.241:0.0	.	314;802;802	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	I	802;802;802;802;590;314	ENSP00000349145:M802I;ENSP00000350160:M802I;ENSP00000251041:M802I;ENSP00000401633:M314I	.	M	+	3	0	MYO16	108459275	0.999000	0.42202	0.999000	0.59377	0.982000	0.71751	0.524000	0.22940	0.096000	0.17463	0.655000	0.94253	ATG		PASS	0.403	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		30	44	30	44	---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113158973	113158973	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr13:113158973G>A	ENST00000261965.3	-	18	2328	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F	TUBGCP3_ENST00000375669.3_Silent_p.F714F	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	714					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.F714F(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)					TCTGATGAATGAAATGGACCA	0.413																																						uc001vse.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2140-2142)TTC>TTT		tubulin, gamma complex associated protein 3							118.0	98.0	105.0					13																	113158973		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113158973G>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.2142C>T	13.37:g.113158973G>A						TUBGCP3_uc010tjq.1_Silent_p.F704F|TUBGCP3_uc001vsf.2_Silent_p.F714F	p.F714F	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			18	2329	-	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)		714					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.2142C>T	CCDS9525.1																																																																																				PASS	0.413	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		8	27	8	27	---	---	---	---
PPP2R3C	55012	broad.mit.edu	37	14	35554831	35554831	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:35554831C>T	ENST00000261475.5	-	13	1680	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	443					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D443N(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TTTTCACTGTCATTTGCAACA	0.383																																						uc001wss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1327-1329)GAC>AAC		serine/threonine-protein phosphatase 2A							138.0	128.0	132.0					14																	35554831		2202	4300	6502	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35554831C>T	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1327G>A	14.37:g.35554831C>T	ENSP00000261475:p.Asp443Asn					PPP2R3C_uc001wst.2_Missense_Mutation_p.D327N|PPP2R3C_uc010tpr.1_Missense_Mutation_p.D327N|PPP2R3C_uc001wsu.2_RNA	p.D443N	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	13	1681	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		443					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.1327G>A	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	c	18.99	3.739790	0.69304	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.41710	1.295	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.48317	-0.9046	9	0.27785	T	0.31	-11.4646	19.8858	0.96911	0.0:1.0:0.0:0.0	.	443	Q969Q6	P2R3C_HUMAN	N	443;118	.	ENSP00000261475:D443N	D	-	1	0	PPP2R3C	34624582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.626000	0.83164	2.714000	0.92807	0.579000	0.79373	GAC		PASS	0.383	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		9	119	9	119	---	---	---	---
PPP2R3C	55012	broad.mit.edu	37	14	35554858	35554858	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:35554858C>T	ENST00000261475.5	-	13	1653	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	434					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E434K(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCTCTGTTCTCGTAAGTCCAG	0.378																																						uc001wss.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1300-1302)GAG>AAG		serine/threonine-protein phosphatase 2A							135.0	127.0	129.0					14																	35554858		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35554858C>T	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1300G>A	14.37:g.35554858C>T	ENSP00000261475:p.Glu434Lys					PPP2R3C_uc001wst.2_Missense_Mutation_p.E318K|PPP2R3C_uc010tpr.1_Missense_Mutation_p.E318K|PPP2R3C_uc001wsu.2_RNA	p.E434K	NM_017917	NP_060387	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	13	1654	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		434					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.1300G>A	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	c	35	5.415591	0.96092	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.84940	0.0865	9	0.87932	D	0	-10.0139	19.8858	0.96911	0.0:1.0:0.0:0.0	.	434	Q969Q6	P2R3C_HUMAN	K	434;109	.	ENSP00000261475:E434K	E	-	1	0	PPP2R3C	34624609	1.000000	0.71417	0.948000	0.38648	0.861000	0.49209	7.626000	0.83164	2.714000	0.92807	0.579000	0.79373	GAG		PASS	0.378	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		12	128	12	128	---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45512921	45512921	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:45512921G>C	ENST00000361577.3	+	12	4059	c.3845G>C	c.(3844-3846)aGa>aCa	p.R1282T	FAM179B_ENST00000361462.2_Missense_Mutation_p.R1282T|FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1282								p.R1282T(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATTTTATTAGATGCTTAGCT	0.343																																						uc001wvv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)	3						c.(3844-3846)AGA>ACA		hypothetical protein LOC23116							82.0	83.0	83.0					14																	45512921		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45512921G>C	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.3845G>C	14.37:g.45512921G>C	ENSP00000355045:p.Arg1282Thr					FAM179B_uc001wvw.2_Missense_Mutation_p.R1282T|FAM179B_uc010anc.2_RNA	p.R1282T	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			12	4054	+			1282					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3845G>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289989	0.80914	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.30714	1.52;1.52	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.83275	0.973;0.996	T	0.56950	-0.7894	10	0.56958	D	0.05	-21.2351	18.1925	0.89812	0.0:0.0:1.0:0.0	.	1282;1282	G3XAE9;Q9Y4F4	.;F179B_HUMAN	T	1282	ENSP00000355045:R1282T;ENSP00000354917:R1282T	ENSP00000354917:R1282T	R	+	2	0	FAM179B	44582671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	2.652000	0.90054	0.563000	0.77884	AGA		PASS	0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		33	88	33	88	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45706889	45706889	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:45706889G>A	ENST00000310806.4	-	5	1637	c.1179C>T	c.(1177-1179)atC>atT	p.I393I		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	393					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)	p.I393I(1)		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						TATTATTATTGATGCTTTTAA	0.274																																						uc001wwf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1177-1179)ATC>ATT		chromosome 14 open reading frame 106							68.0	69.0	68.0					14																	45706889		2202	4288	6490	SO:0001819	synonymous_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45706889G>A	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.1179C>T	14.37:g.45706889G>A						C14orf106_uc010anh.2_RNA	p.I393I	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			5	1638	-			393					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.1179C>T	CCDS9684.1																																																																																				PASS	0.274	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			11	135	11	135	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50844896	50844896	+	5'UTR	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:50844896T>C	ENST00000356146.1	-	0	1352				CDKL1_ENST00000216378.2_Intron|CDKL1_ENST00000395834.1_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						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)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ttcctttacctgcagacctta	0.498																																						uc010anu.1																			0				ovary(1)|stomach(1)	2						c.(1351-1353)GCA>GCG		cyclin-dependent kinase-like 1							52.0	49.0	50.0					14																	50844896		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50844896T>C	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	ENST00000356146.1:c.-1630A>G	14.37:g.50844896T>C						CDKL1_uc001wxz.2_Intron	p.A451A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			9	1353	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000356146.1	37	c.1353A>G																																																																																					PASS	0.498	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2			21	58	21	58	---	---	---	---
GCH1	2643	broad.mit.edu	37	14	55369083	55369083	+	Missense_Mutation	SNP	G	G	A	rs527416949		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:55369083G>A	ENST00000491895.2	-	1	487	c.299C>T	c.(298-300)tCg>tTg	p.S100L	GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000395514.1_Missense_Mutation_p.S100L|GCH1_ENST00000543643.2_Missense_Mutation_p.S100L|GCH1_ENST00000536224.2_Missense_Mutation_p.S100L	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	100					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.S100L(1)		endometrium(2)|lung(7)|skin(2)	11						CTGCATGGCCGAGGCCGCCCT	0.687																																					Pancreas(198;1245 2204 4807 21567 38372)	uc001xbh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(298-300)TCG>TTG		GTP cyclohydrolase 1 isoform 1							28.0	28.0	28.0					14																	55369083		2203	4299	6502	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.chr14:55369083G>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.299C>T	14.37:g.55369083G>A	ENSP00000419045:p.Ser100Leu					GCH1_uc001xbi.1_Missense_Mutation_p.S100L|GCH1_uc001xbj.1_Missense_Mutation_p.S100L|GCH1_uc001xbk.1_Missense_Mutation_p.S100L|GCH1_uc010aol.1_Missense_Mutation_p.S100L|GCH1_uc001xbl.1_Missense_Mutation_p.S100L	p.S100L	NM_001024024	NP_001019195	P30793	GCH1_HUMAN			1	460	-			100					Q6FHY7|Q9Y4I8	Missense_Mutation	SNP	ENST00000491895.2	37	c.299C>T	CCDS9720.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266419	0.59540	.	.	ENSG00000131979	ENST00000395514;ENST00000543643;ENST00000491895;ENST00000536224;ENST00000395524	D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63	4.46	1.56	0.23342	.	0.108371	0.64402	D	0.000006	D	0.97356	0.9135	N	0.12746	0.255	0.29065	N	0.883669	P;P;P;B	0.37398	0.545;0.545;0.593;0.037	B;B;B;B	0.28011	0.085;0.085;0.085;0.015	D	0.97994	1.0356	10	0.87932	D	0	.	5.0358	0.14434	0.0829:0.1462:0.6196:0.1513	.	100;100;100;100	F8W9F6;P30793-2;P30793-4;P30793	.;.;.;GCH1_HUMAN	L	100	ENSP00000378890:S100L;ENSP00000444011:S100L;ENSP00000419045:S100L;ENSP00000445246:S100L	ENSP00000378890:S100L	S	-	2	0	GCH1	54438833	0.980000	0.34600	0.922000	0.36590	0.881000	0.50899	1.719000	0.38011	0.132000	0.18615	0.561000	0.74099	TCG		PASS	0.687	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			5	71	5	71	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56117286	56117286	+	Splice_Site	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:56117286G>T	ENST00000395314.3	+	24	2564		c.e24-1		KTN1_ENST00000413890.2_Intron|KTN1_ENST00000416613.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000554507.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						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)	p.?(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCATTGTCAAGGATTTGAAAC	0.348			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Unknown(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.e25-1		kinectin 1 isoform a							93.0	99.0	97.0					14																	56117286		2203	4300	6503	SO:0001630	splice_region_variant	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56117286G>T		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.2497-1G>T	14.37:g.56117286G>T						KTN1_uc001xce.2_Splice_Site_p.D833_splice|KTN1_uc001xcc.2_Splice_Site_p.D833_splice|KTN1_uc001xcd.2_Intron|KTN1_uc010trb.1_Splice_Site_p.D833_splice|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.2_Splice_Site_p.D128_splice	p.D833_splice	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			25	2799	+								B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	ENST00000395314.3	37	c.2497_splice	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671786	0.67928	.	.	ENSG00000126777	ENST00000395309;ENST00000438792;ENST00000395314;ENST00000416613;ENST00000554507;ENST00000554890	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55187039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.778000	0.75043	2.774000	0.95407	0.585000	0.79938	.		PASS	0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Intron	17	92	17	92	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64461905	64461905	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:64461905C>T	ENST00000344113.4	+	23	3137	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L975L|SYNE2_ENST00000358025.3_Silent_p.L975L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	975					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.L975L(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)		CCAAGGGTCTCATCAAAGAAC	0.313																																						uc001xgm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2923-2925)CTC>CTT		spectrin repeat containing, nuclear envelope 2							48.0	47.0	47.0					14																	64461905		1845	4070	5915	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.chr14:64461905C>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.2925C>T	14.37:g.64461905C>T						SYNE2_uc001xgl.2_Silent_p.L975L	p.L975L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	23	3155	+			975			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2925C>T	CCDS41963.1																																																																																				PASS	0.313	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		13	95	13	95	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64537597	64537597	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:64537597G>C	ENST00000344113.4	+	52	10878	c.10666G>C	c.(10666-10668)Gaa>Caa	p.E3556Q	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3589Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3556Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E190Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3556					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.E3556Q(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)		AGCATTTCAAGAAATTACTTC	0.373																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(10666-10668)GAA>CAA		spectrin repeat containing, nuclear envelope 2							66.0	62.0	63.0					14																	64537597		1878	4105	5983	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.chr14:64537597G>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.10666G>C	14.37:g.64537597G>C	ENSP00000341781:p.Glu3556Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E3556Q|SYNE2_uc010apw.1_Missense_Mutation_p.E262Q	p.E3556Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	52	10896	+			3556			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.10666G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393626	0.42410	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.61158	0.49;0.5;0.13;3.85	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000021	T	0.69124	0.3076	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70059	-0.4976	10	0.56958	D	0.05	.	19.6528	0.95823	0.0:0.0:1.0:0.0	.	3556;3556	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3556;3556;3589;3589;190	ENSP00000350719:E3556Q;ENSP00000341781:E3556Q;ENSP00000452570:E3589Q;ENSP00000450831:E190Q	ENSP00000261678:E3589Q	E	+	1	0	SYNE2	63607350	1.000000	0.71417	0.929000	0.37066	0.254000	0.26022	6.778000	0.75043	2.646000	0.89796	0.655000	0.94253	GAA		PASS	0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		10	110	10	110	---	---	---	---
ESR2	2100	broad.mit.edu	37	14	64724059	64724059	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:64724059C>G	ENST00000341099.4	-	6	1393	c.976G>C	c.(976-978)Gac>Cac	p.D326H	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.D326H|ESR2_ENST00000553796.1_Missense_Mutation_p.D326H|ESR2_ENST00000557772.1_Missense_Mutation_p.D326H|ESR2_ENST00000357782.2_Missense_Mutation_p.D326H|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000353772.3_Missense_Mutation_p.D326H|ESR2_ENST00000358599.5_Missense_Mutation_p.D326H|ESR2_ENST00000555278.1_Missense_Mutation_p.D326H|ESR2_ENST00000542956.1_Missense_Mutation_p.D326H	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	326	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.D326H(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)	CGCACTTGGTCGAACAGGCTG	0.572																																						uc001xha.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(976-978)GAC>CAC		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						98.0	99.0	99.0					14																	64724059		2203	4300	6503	SO:0001583	missense	2100				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.chr14:64724059C>G	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.976G>C	14.37:g.64724059C>G	ENSP00000343925:p.Asp326His					ESR2_uc001xgu.2_Missense_Mutation_p.D326H|ESR2_uc001xgv.2_Missense_Mutation_p.D326H|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Missense_Mutation_p.D326H|ESR2_uc001xgy.1_Missense_Mutation_p.D326H|ESR2_uc001xgz.1_Missense_Mutation_p.D326H|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_RNA	p.D326H	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	6	1444	-			326			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.976G>C	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263519	0.95399	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61;-4.61;-4.61;-4.61;-4.61;-4.61;-4.61	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043398	0.85682	D	0.000000	D	0.98979	0.9652	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	0.981;1.0;0.998;1.0	P;D;D;D	0.87578	0.884;0.997;0.966;0.998	D	0.99466	1.0944	10	0.72032	D	0.01	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	326;326;326;326	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	H	326	ENSP00000452485:D326H;ENSP00000441792:D326H;ENSP00000450699:D326H;ENSP00000335551:D326H;ENSP00000351412:D326H;ENSP00000450488:D326H;ENSP00000452426:D326H;ENSP00000350427:D326H;ENSP00000451582:D326H;ENSP00000343925:D326H	ENSP00000343925:D326H	D	-	1	0	ESR2	63793812	1.000000	0.71417	0.965000	0.40720	0.929000	0.56500	7.744000	0.85034	2.761000	0.94854	0.655000	0.94253	GAC		PASS	0.572	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			16	188	16	188	---	---	---	---
AKAP5	9495	broad.mit.edu	37	14	64936211	64936211	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:64936211G>C	ENST00000394718.4	+	2	1477	c.1099G>C	c.(1099-1101)Gaa>Caa	p.E367Q	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E367Q|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	367					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)	p.E367Q(1)		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)		AATTTCAGCTGAAAATGAGCA	0.323																																						uc001xhd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)GAA>CAA		A-kinase anchor protein 5							98.0	114.0	108.0					14																	64936211		2203	4299	6502	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.chr14:64936211G>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.1099G>C	14.37:g.64936211G>C	ENSP00000378207:p.Glu367Gln					ZBTB25_uc001xhc.2_Intron	p.E367Q	NM_004857	NP_004848	P24588	AKAP5_HUMAN		all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)	2	1477	+			367					A2RRB8	Missense_Mutation	SNP	ENST00000394718.4	37	c.1099G>C	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664684	0.47572	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.24908	1.83;1.83	4.99	4.99	0.66335	.	0.385085	0.22100	N	0.064632	T	0.22898	0.0553	N	0.24115	0.695	0.20703	N	0.999866	P	0.48911	0.917	P	0.46049	0.502	T	0.10132	-1.0643	10	0.66056	D	0.02	-12.4611	13.4796	0.61328	0.0:0.157:0.843:0.0	.	367	P24588	AKAP5_HUMAN	Q	367	ENSP00000378207:E367Q;ENSP00000315615:E367Q	ENSP00000315615:E367Q	E	+	1	0	AKAP5	64005964	0.973000	0.33851	0.892000	0.35008	0.496000	0.33645	2.768000	0.47645	2.746000	0.94184	0.591000	0.81541	GAA		PASS	0.323	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3			20	293	20	293	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65246467	65246467	+	Silent	SNP	G	G	A	rs199822834		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:65246467G>A	ENST00000389721.5	-	20	4481	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	SPTB_ENST00000542895.1_Silent_p.I1483I|SPTB_ENST00000389720.3_Silent_p.I1483I|SPTB_ENST00000389722.3_Silent_p.I1483I|SPTB_ENST00000556626.1_Silent_p.I1483I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1483					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)	p.I1483I(1)		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)		AGTCCCGGCTGATCTGCAGCT	0.592																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4447-4449)ATC>ATT		spectrin beta isoform b		G	,	0,4406		0,0,2203	144.0	133.0	137.0		4449,4449	5.4	1.0	14		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPTB	NM_000347.5,NM_001024858.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1483/2138,1483/2329	65246467	1,13005	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.chr14:65246467G>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.4449C>T	14.37:g.65246467G>A						SPTB_uc001xhr.2_Silent_p.I1483I|SPTB_uc001xhs.2_Silent_p.I1483I|SPTB_uc001xhu.2_Silent_p.I1483I|SPTB_uc010aqi.2_Silent_p.I144I	p.I1483I	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4503	-		all_lung(585;4.15e-09)	1483			Spectrin 12.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4449C>T	CCDS32100.1																																																																																				PASS	0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			34	219	34	219	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68249978	68249978	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:68249978G>C	ENST00000347230.4	-	21	4029	c.3891C>G	c.(3889-3891)ctC>ctG	p.L1297L	ZFYVE26_ENST00000555452.1_Silent_p.L1297L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1297					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)	p.L1297L(1)		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)		TGAGGGCTGGGAGTGATGAGT	0.577																																						uc001xka.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(2)	11						c.(3889-3891)CTC>CTG		zinc finger, FYVE domain containing 26							111.0	118.0	115.0					14																	68249978		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:68249978G>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.3891C>G	14.37:g.68249978G>C						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1297L	p.L1297L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4030	-			1297					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.3891C>G	CCDS9788.1																																																																																				PASS	0.577	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		28	320	28	320	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256726	69256726	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:69256726C>G	ENST00000439696.2	-	2	842	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.E181Q|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	181					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)	p.E181Q(1)		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)		GCACGGCGCTCTTCAGCGTTG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)GAG>CAG		butyrate response factor 1							29.0	35.0	33.0					14																	69256726		2203	4296	6499	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.chr14:69256726C>G	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.541G>C	14.37:g.69256726C>G	ENSP00000388402:p.Glu181Gln		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.E181Q	p.E181Q	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	671	-			181					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.541G>C	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791197	0.70452	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	T;T	0.44083	0.93;0.93	4.5	2.6	0.31112	.	0.066044	0.64402	D	0.000020	T	0.55433	0.1920	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.57370	-0.7823	10	0.87932	D	0	-14.8659	9.3485	0.38122	0.1424:0.7803:0.0:0.0772	.	181	Q07352	TISB_HUMAN	Q	181;181;164;187;159	ENSP00000388402:E181Q;ENSP00000337386:E181Q	ENSP00000337386:E181Q	E	-	1	0	ZFP36L1	68326479	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.813000	0.69201	1.086000	0.41228	0.585000	0.79938	GAG		PASS	0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			9	68	9	68	---	---	---	---
ACOT4	122970	broad.mit.edu	37	14	74061929	74061929	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:74061929G>A	ENST00000326303.4	+	3	1091	c.837G>A	c.(835-837)ctG>ctA	p.L279L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	279					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)	p.L279L(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCTATGACCTGAGGAGAATCA	0.473																																						uc001xoo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(835-837)CTG>CTA		acyl-CoA thioesterase 4							87.0	85.0	85.0					14																	74061929		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:74061929G>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.837G>A	14.37:g.74061929G>A							p.L279L	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	3	1091	+			279					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.837G>A	CCDS9817.1																																																																																				PASS	0.473	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		16	152	16	152	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75230773	75230773	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75230773C>A	ENST00000552421.1	+	1	705	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	YLPM1_ENST00000325680.7_Missense_Mutation_p.S194Y|YLPM1_ENST00000238571.3_Missense_Mutation_p.S194Y			P49750	YLPM1_HUMAN	YLP motif containing 1	194	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)	p.S194Y(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCTTCGCAGTCCCCACCTTCC	0.597																																						uc001xqj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(580-582)TCC>TAC		YLP motif containing 1							76.0	85.0	82.0					14																	75230773		2073	4198	6271	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230773C>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.581C>A	14.37:g.75230773C>A	ENSP00000447921:p.Ser194Tyr						p.S194Y	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	705	+			37			Pro-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.581C>A		.	.	.	.	.	.	.	.	.	.	C	12.16	1.854703	0.32791	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.22336	1.96;1.96;1.96	4.44	4.44	0.53790	.	0.123265	0.37304	N	0.002146	T	0.24928	0.0605	N	0.14661	0.345	0.26346	N	0.977288	D	0.64830	0.994	P	0.59889	0.865	T	0.06807	-1.0806	10	0.52906	T	0.07	-6.7644	14.1199	0.65180	0.0:1.0:0.0:0.0	.	194	P49750-4	.	Y	194	ENSP00000447921:S194Y;ENSP00000324463:S194Y;ENSP00000238571:S194Y	ENSP00000238571:S194Y	S	+	2	0	YLPM1	74300526	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	3.327000	0.52045	2.287000	0.76781	0.650000	0.86243	TCC		PASS	0.597	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		7	105	7	105	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513083	75513083	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75513083C>T	ENST00000556740.1	-	1	3311	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	MLH3_ENST00000238662.7_Silent_p.E1092E|MLH3_ENST00000556257.1_Silent_p.E1092E|MLH3_ENST00000380968.2_Silent_p.E38E|MLH3_ENST00000544985.1_Silent_p.E87E|MLH3_ENST00000355774.2_Silent_p.E1092E|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1092					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)	p.E1092E(2)		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)		ACTTACCATTCTCAAGTACAA	0.423								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(3274-3276)GAG>GAA	MMR	mutL homolog 3 isoform 1							108.0	92.0	98.0					14																	75513083		2203	4300	6503	SO:0001819	synonymous_variant	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513083C>T	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.3276G>A	14.37:g.75513083C>T						MLH3_uc001xre.1_Silent_p.E1092E|MLH3_uc010tuy.1_RNA	p.E1092E	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3492	-			1092					P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	c.3276G>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	7.328	0.618279	0.14129	.	.	ENSG00000119684	ENST00000553713	.	.	.	5.49	1.62	0.23740	.	.	.	.	.	T	0.51227	0.1662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-5.8892	4.6034	0.12364	0.2227:0.5056:0.0:0.2716	.	.	.	.	K	149	.	.	R	-	2	0	MLH3	74582836	0.988000	0.35896	0.983000	0.44433	0.933000	0.57130	0.228000	0.17814	0.446000	0.26666	0.650000	0.86243	AGA		PASS	0.423	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		10	145	10	145	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513680	75513680	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75513680C>A	ENST00000556740.1	-	1	2714	c.2679G>T	c.(2677-2679)atG>atT	p.M893I	MLH3_ENST00000238662.7_Missense_Mutation_p.M893I|MLH3_ENST00000556257.1_Missense_Mutation_p.M893I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.M893I|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	893					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)	p.M893I(2)		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)		TAAAACGACTCATCATCCCCA	0.373								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2677-2679)ATG>ATT	MMR	mutL homolog 3 isoform 1							151.0	158.0	156.0					14																	75513680		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.chr14:75513680C>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.2679G>T	14.37:g.75513680C>A	ENSP00000452316:p.Met893Ile					MLH3_uc001xre.1_Missense_Mutation_p.M893I|MLH3_uc010tuy.1_RNA	p.M893I	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2895	-			893					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2679G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124283	0.01770	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.79352	-1.22;-1.21;-1.26;-1.22	5.48	1.37	0.22104	.	1.226680	0.05644	N	0.584029	T	0.66992	0.2846	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46707	-0.9172	10	0.21014	T	0.42	0.3616	3.9272	0.09269	0.1663:0.4564:0.0:0.3773	.	893;893	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	I	893	ENSP00000348020:M893I;ENSP00000238662:M893I;ENSP00000451540:M893I;ENSP00000452316:M893I	ENSP00000238662:M893I	M	-	3	0	MLH3	74583433	0.000000	0.05858	0.102000	0.21198	0.062000	0.15995	0.224000	0.17738	0.671000	0.31185	0.650000	0.86243	ATG		PASS	0.373	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		30	382	30	382	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75513683	75513683	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75513683C>T	ENST00000556740.1	-	1	2711	c.2676G>A	c.(2674-2676)atG>atA	p.M892I	MLH3_ENST00000238662.7_Missense_Mutation_p.M892I|MLH3_ENST00000556257.1_Missense_Mutation_p.M892I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.M892I|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	892					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)	p.M892I(2)		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)		AACGACTCATCATCCCCATTG	0.363								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2674-2676)ATG>ATA	MMR	mutL homolog 3 isoform 1							151.0	158.0	156.0					14																	75513683		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.chr14:75513683C>T	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.2676G>A	14.37:g.75513683C>T	ENSP00000452316:p.Met892Ile					MLH3_uc001xre.1_Missense_Mutation_p.M892I|MLH3_uc010tuy.1_RNA	p.M892I	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2892	-			892					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2676G>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.319518	0.01320	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80480	-1.32;-1.33;-1.38;-1.32	5.55	-3.04	0.05412	.	1.407450	0.03636	N	0.238633	T	0.71771	0.3379	L	0.56769	1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.44065	-0.9352	10	0.18276	T	0.48	1.0249	3.2209	0.06715	0.1391:0.4884:0.087:0.2854	.	892;892	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	I	892	ENSP00000348020:M892I;ENSP00000238662:M892I;ENSP00000451540:M892I;ENSP00000452316:M892I	ENSP00000238662:M892I	M	-	3	0	MLH3	74583436	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.487000	0.02310	-0.231000	0.09825	-0.133000	0.14855	ATG		PASS	0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		31	376	31	376	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514218	75514218	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75514218G>A	ENST00000556740.1	-	1	2176	c.2141C>T	c.(2140-2142)tCc>tTc	p.S714F	MLH3_ENST00000238662.7_Missense_Mutation_p.S714F|MLH3_ENST00000556257.1_Missense_Mutation_p.S714F|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.S714F|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	714					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)	p.S714F(2)		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)		GAAAGAGGGGGATGTATCAGA	0.378								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(2140-2142)TCC>TTC	MMR	mutL homolog 3 isoform 1							90.0	90.0	90.0					14																	75514218		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.chr14:75514218G>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.2141C>T	14.37:g.75514218G>A	ENSP00000452316:p.Ser714Phe					MLH3_uc001xre.1_Missense_Mutation_p.S714F|MLH3_uc010tuy.1_RNA	p.S714F	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2357	-			714					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2141C>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762394	0.31228	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	6.07	5.18	0.71444	.	0.489937	0.21634	N	0.071427	T	0.48960	0.1529	L	0.40543	1.245	0.51767	D	0.99993	D;D	0.67145	0.996;0.981	D;P	0.64237	0.923;0.765	T	0.50250	-0.8850	10	0.87932	D	0	-3.8801	13.5808	0.61901	0.0715:0.0:0.9285:0.0	.	714;714	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	F	714	ENSP00000348020:S714F;ENSP00000238662:S714F;ENSP00000451540:S714F;ENSP00000452316:S714F	ENSP00000238662:S714F	S	-	2	0	MLH3	74583971	0.736000	0.28164	0.028000	0.17463	0.065000	0.16274	2.674000	0.46867	1.567000	0.49668	0.655000	0.94253	TCC		PASS	0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		22	196	22	196	---	---	---	---
FOS	2353	broad.mit.edu	37	14	75747297	75747297	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:75747297G>A	ENST00000303562.4	+	3	637	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	FOS_ENST00000555242.1_Missense_Mutation_p.R143Q|FOS_ENST00000555686.1_Missense_Mutation_p.R29Q|FOS_ENST00000555347.1_5'UTR|FOS_ENST00000535987.1_Intron	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	143	Basic motif; required for the activation of phospholipid synthesis, but not for CDS1-binding.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.			SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry). {ECO:0000305}.	aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|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)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R143Q(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	AGGAGAATCCGAAGGGAAAGG	0.468																																						uc001xrn.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(2)|ovary(1)	3						c.(427-429)CGA>CAA		v-fos FBJ murine osteosarcoma viral oncogene							52.0	60.0	57.0					14																	75747297		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|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|SMAD 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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747297G>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.428G>A	14.37:g.75747297G>A	ENSP00000306245:p.Arg143Gln					FOS_uc010tva.1_Intron|FOS_uc010asi.2_Missense_Mutation_p.R29Q|FOS_uc001xro.2_5'UTR	p.R143Q	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	3	633	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	143	SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).		Basic motif.		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.428G>A	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523266	0.85600	.	.	ENSG00000170345	ENST00000303562;ENST00000555242;ENST00000555686;ENST00000557139	T;T;T;T	0.71579	-0.25;-0.25;-0.25;-0.58	5.28	5.28	0.74379	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.057148	0.64402	D	0.000003	D	0.89361	0.6693	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92277	0.5830	10	0.87932	D	0	-11.9305	18.8915	0.92406	0.0:0.0:1.0:0.0	.	143	P01100	FOS_HUMAN	Q	143;143;29;59	ENSP00000306245:R143Q;ENSP00000452386:R143Q;ENSP00000452590:R29Q;ENSP00000451786:R59Q	ENSP00000306245:R143Q	R	+	2	0	FOS	74817050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.621000	0.88768	0.563000	0.77884	CGA		PASS	0.468	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		11	58	11	58	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77857401	77857401	+	Missense_Mutation	SNP	C	C	G	rs267604064		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:77857401C>G	ENST00000216471.4	+	3	2125	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L	SAMD15_ENST00000533095.2_Missense_Mutation_p.F27L	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	613								p.F613L(1)		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						AGCCATTATTCAAACGCTCCA	0.383																																						uc001xtq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1837-1839)TTC>TTG		hypothetical protein LOC161394							67.0	69.0	69.0					14																	77857401		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77857401C>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.1839C>G	14.37:g.77857401C>G	ENSP00000216471:p.Phe613Leu						p.F613L	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	3	1839	+			613					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1839C>G	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150975	0.38021	.	.	ENSG00000100583	ENST00000533095;ENST00000216471	T	0.21543	2.0	5.43	2.45	0.29901	Sterile alpha motif/pointed domain (1);	.	.	.	.	T	0.20536	0.0494	L	0.56769	1.78	0.25770	N	0.984844	P	0.36616	0.561	B	0.35413	0.202	T	0.11591	-1.0581	9	0.62326	D	0.03	-7.2159	7.4102	0.27014	0.0:0.6208:0.0:0.3792	.	613	Q9P1V8	SAM15_HUMAN	L	27;613	ENSP00000216471:F613L	ENSP00000216471:F613L	F	+	3	2	SAMD15	76927154	0.470000	0.25854	0.209000	0.23619	0.564000	0.35744	-0.031000	0.12287	0.200000	0.20447	0.650000	0.86243	TTC		PASS	0.383	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		9	134	9	134	---	---	---	---
SEL1L	6400	broad.mit.edu	37	14	81972508	81972508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:81972508C>A	ENST00000336735.4	-	4	534	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	SEL1L_ENST00000555824.1_Nonsense_Mutation_p.E140*	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	140	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.|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.E140*(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)		GATGTACATTCATCATACTCC	0.438																																						uc010tvv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(418-420)GAA>TAA		sel-1 suppressor of lin-12-like precursor							146.0	130.0	136.0					14																	81972508		2203	4300	6503	SO:0001587	stop_gained	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81972508C>A		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.418G>T	14.37:g.81972508C>A	ENSP00000337053:p.Glu140*					SEL1L_uc001xvo.3_Nonsense_Mutation_p.E140*	p.E140*	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	4	535	-			140			Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Fibronectin type-II.		Q6UWT6|Q9P1T9|Q9UHK7	Nonsense_Mutation	SNP	ENST00000336735.4	37	c.418G>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	40	7.953575	0.98580	.	.	ENSG00000071537	ENST00000336735;ENST00000555824;ENST00000557372	.	.	.	6.14	6.14	0.99180	.	0.093670	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	20.819	0.99723	0.0:1.0:0.0:0.0	.	.	.	.	X	140;140;119	.	ENSP00000337053:E140X	E	-	1	0	SEL1L	81042261	1.000000	0.71417	0.872000	0.34217	0.900000	0.52787	5.717000	0.68446	2.927000	0.99377	0.637000	0.83480	GAA		PASS	0.438	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		18	144	18	144	---	---	---	---
NRDE2	55051	broad.mit.edu	37	14	90798204	90798204	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:90798204A>T	ENST00000354366.3	-	1	277	c.45T>A	c.(43-45)gaT>gaA	p.D15E	NRDE2_ENST00000357904.3_5'UTR|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	15								p.D15E(1)									AGCTCCCGCCATCGGGAGCCT	0.607																																						uc001xyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(43-45)GAT>GAA		hypothetical protein LOC55051 isoform 1							64.0	74.0	71.0					14																	90798204		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90798204A>T	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.45T>A	14.37:g.90798204A>T	ENSP00000346335:p.Asp15Glu					C14orf102_uc001xyj.1_5'UTR	p.D15E	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	1	76	-		all_cancers(154;0.118)	15					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.45T>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	9.259	1.042792	0.19748	.	.	ENSG00000119720	ENST00000354366	T	0.20738	2.05	4.72	-4.85	0.03142	.	0.872292	0.10132	N	0.711930	T	0.05640	0.0148	N	0.03608	-0.345	0.21256	N	0.999744	B	0.06786	0.001	B	0.04013	0.001	T	0.39035	-0.9633	10	0.02654	T	1	-1.7605	6.0151	0.19598	0.2758:0.411:0.3132:0.0	.	15	Q9H7Z3	CN102_HUMAN	E	15	ENSP00000346335:D15E	ENSP00000346335:D15E	D	-	3	2	C14orf102	89867957	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-1.437000	0.02419	-0.836000	0.04229	-0.464000	0.05259	GAT		PASS	0.607	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		26	187	26	187	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92191510	92191510	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:92191510C>A	ENST00000256343.3	-	3	238	c.82G>T	c.(82-84)Gat>Tat	p.D28Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	28					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.D28Y(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCTCTGTATCATCTAAATAA	0.289																																						uc001xzs.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(2)|ovary(1)	5						c.(82-84)GAT>TAT		cation channel, sperm-associated, beta							39.0	37.0	38.0					14																	92191510		2201	4296	6497	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92191510C>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.82G>T	14.37:g.92191510C>A	ENSP00000256343:p.Asp28Tyr						p.D28Y	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			3	222	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	28					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.82G>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140457	0.37825	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.44083	0.93	4.38	-0.98	0.10272	.	1.290540	0.05279	N	0.519032	T	0.39860	0.1094	L	0.44542	1.39	0.09310	N	0.999994	D	0.54207	0.965	P	0.51135	0.66	T	0.30179	-0.9987	10	0.62326	D	0.03	-5.3799	0.4966	0.00573	0.1825:0.3298:0.1791:0.3086	.	28	Q9H7T0	CTSRB_HUMAN	Y	28	ENSP00000256343:D28Y	ENSP00000256343:D28Y	D	-	1	0	CATSPERB	91261263	0.001000	0.12720	0.146000	0.22360	0.071000	0.16799	-0.114000	0.10757	0.004000	0.14682	0.585000	0.79938	GAT		PASS	0.289	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		3	56	3	56	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94125580	94125580	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:94125580G>C	ENST00000393151.2	+	40	6615	c.6615G>C	c.(6613-6615)ttG>ttC	p.L2205F	UNC79_ENST00000553484.1_Missense_Mutation_p.L2227F|UNC79_ENST00000256339.4_Missense_Mutation_p.L2028F|UNC79_ENST00000555664.1_Missense_Mutation_p.L2166F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2205					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.L2028F(1)|p.L2227F(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						TTTGCCTCTTGAAGATCCCTT	0.303																																						uc001ybv.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(6148-6150)TTG>TTC		hypothetical protein LOC57578							65.0	67.0	66.0					14																	94125580		2202	4297	6499	SO:0001583	missense	57578					integral to membrane		g.chr14:94125580G>C	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.6615G>C	14.37:g.94125580G>C	ENSP00000376858:p.Leu2205Phe					KIAA1409_uc001ybs.1_Missense_Mutation_p.L2028F	p.L2050F	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	38	6233	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2205					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6150G>C		.	.	.	.	.	.	.	.	.	.	G	15.72	2.917127	0.52546	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27402	1.68;1.71;1.67;1.68	5.44	5.44	0.79542	.	0.070086	0.64402	D	0.000016	T	0.38348	0.1037	L	0.41573	1.285	0.43657	D	0.996076	B	0.31837	0.342	P	0.46389	0.515	T	0.20306	-1.0279	10	0.48119	T	0.1	-13.5231	12.9276	0.58268	0.0742:0.0:0.9257:0.0	.	2227	C9JQL1	.	F	2028;2166;2227;2205;2227	ENSP00000256339:L2028F;ENSP00000450868:L2166F;ENSP00000451360:L2227F;ENSP00000376858:L2205F	ENSP00000256339:L2028F	L	+	3	2	KIAA1409	93195333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.611000	0.61162	2.712000	0.92718	0.650000	0.86243	TTG		PASS	0.303	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	57	7	57	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100405640	100405640	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:100405640C>G	ENST00000262233.6	+	21	2437	c.2298C>G	c.(2296-2298)ttC>ttG	p.F766L	EML1_ENST00000327921.9_Missense_Mutation_p.F754L|EML1_ENST00000334192.4_Missense_Mutation_p.F785L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	766	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.F785L(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)				TGCACCTCTTCTCATACCCCT	0.537																																						uc001ygs.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(2296-2298)TTC>TTG		echinoderm microtubule associated protein like 1							116.0	109.0	111.0					14																	100405640		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100405640C>G	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.2298C>G	14.37:g.100405640C>G	ENSP00000262233:p.Phe766Leu					EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L	p.F766L	NM_004434	NP_004425	O00423	EMAL1_HUMAN			21	2367	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	766			WD 10.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.2298C>G	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177983	0.57692	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18338	2.22;2.22;2.22	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.81942	2.565	0.80722	D	1	P;P;P	0.43352	0.688;0.735;0.804	B;B;B	0.38562	0.276;0.21;0.276	T	0.08513	-1.0718	10	0.87932	D	0	-24.9118	11.2454	0.48993	0.0:0.9141:0.0:0.0859	.	754;766;785	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	L	754;766;785;785	ENSP00000327384:F754L;ENSP00000262233:F766L;ENSP00000334314:F785L	ENSP00000262233:F766L	F	+	3	2	EML1	99475393	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	3.861000	0.56002	2.240000	0.73641	0.561000	0.74099	TTC		PASS	0.537	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		28	110	28	110	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409022	105409022	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105409022C>A	ENST00000333244.5	-	7	12885	c.12766G>T	c.(12766-12768)Gtc>Ttc	p.V4256F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4256						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V4256F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCACGACGGGGGTCATC	0.642																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(12766-12768)GTC>TTC		AHNAK nucleoprotein 2							123.0	135.0	131.0					14																	105409022		1920	4119	6039	SO:0001583	missense	113146					nucleus		g.chr14:105409022C>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.12766G>T	14.37:g.105409022C>A	ENSP00000353114:p.Val4256Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.V4156F	p.V4256F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12886	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4256					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12766G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.09	2.432332	0.43122	.	.	ENSG00000185567	ENST00000333244	T	0.00649	5.98	3.8	-2.62	0.06152	.	1.042350	0.07786	U	0.954147	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	B	0.30104	0.268	B	0.23150	0.044	T	0.44360	-0.9333	10	0.52906	T	0.07	-15.7256	5.7722	0.18259	0.1299:0.5051:0.0:0.365	.	4256	Q8IVF2	AHNK2_HUMAN	F	4256	ENSP00000353114:V4256F	ENSP00000353114:V4256F	V	-	1	0	AHNAK2	104480067	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.341000	0.07811	-0.146000	0.11274	-1.862000	0.00560	GTC		PASS	0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		105	231	105	231	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409053	105409053	+	Silent	SNP	C	C	G	rs574649015	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105409053C>G	ENST00000333244.5	-	7	12854	c.12735G>C	c.(12733-12735)ctG>ctC	p.L4245L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4245						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L4245L(2)		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)			TGGGGCCTTTCAGGTCCAGCT	0.637																																						uc010axc.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(12733-12735)CTG>CTC		AHNAK nucleoprotein 2							114.0	125.0	121.0					14																	105409053		1880	4106	5986	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409053C>G	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.12735G>C	14.37:g.105409053C>G						AHNAK2_uc001ypx.2_Silent_p.L4145L	p.L4245L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12855	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4245					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12735G>C	CCDS45177.1																																																																																				PASS	0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		34	325	34	325	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414670	105414670	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105414670G>C	ENST00000333244.5	-	7	7237	c.7118C>G	c.(7117-7119)gCt>gGt	p.A2373G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2373						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.A2373G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCAGGTCAGCGGAAGGGGG	0.652																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7117-7119)GCT>GGT		AHNAK nucleoprotein 2							120.0	133.0	129.0					14																	105414670		1941	4137	6078	SO:0001583	missense	113146					nucleus		g.chr14:105414670G>C	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.7118C>G	14.37:g.105414670G>C	ENSP00000353114:p.Ala2373Gly					AHNAK2_uc001ypx.2_Missense_Mutation_p.A2273G	p.A2373G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7238	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2373					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.7118C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.64	1.700042	0.30142	.	.	ENSG00000185567	ENST00000333244	T	0.00695	5.83	3.79	0.214	0.15249	.	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	D	0.58970	0.984	P	0.61397	0.888	T	0.51756	-0.8665	9	0.21014	T	0.42	.	6.641	0.22909	0.1288:0.5664:0.3047:0.0	.	2373	Q8IVF2	AHNK2_HUMAN	G	2373	ENSP00000353114:A2373G	ENSP00000353114:A2373G	A	-	2	0	AHNAK2	104485715	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.055000	0.30467	0.572000	0.29383	-0.462000	0.05337	GCT		PASS	0.652	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	371	10	371	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105417072	105417072	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105417072G>C	ENST00000333244.5	-	7	4835	c.4716C>G	c.(4714-4716)ctC>ctG	p.L1572L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1572						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L1572L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCCCTTTGAGGCCGGCTC	0.607																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4714-4716)CTC>CTG		AHNAK nucleoprotein 2							108.0	115.0	113.0					14																	105417072		1847	4054	5901	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105417072G>C	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.4716C>G	14.37:g.105417072G>C						AHNAK2_uc001ypx.2_Silent_p.L1472L	p.L1572L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4836	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1572					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.4716C>G	CCDS45177.1																																																																																				PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		41	360	41	360	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105420059	105420059	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105420059C>T	ENST00000333244.5	-	7	1848	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	577						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E577K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCTGTCCTTCTGTGTCTTCC	0.502																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1729-1731)GAA>AAA		AHNAK nucleoprotein 2							375.0	388.0	384.0					14																	105420059		2148	4254	6402	SO:0001583	missense	113146					nucleus		g.chr14:105420059C>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.1729G>A	14.37:g.105420059C>T	ENSP00000353114:p.Glu577Lys					AHNAK2_uc001ypx.2_Missense_Mutation_p.E477K	p.E577K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1849	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	577					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.1729G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.70	2.614578	0.46631	.	.	ENSG00000185567	ENST00000333244	T	0.00976	5.48	4.64	0.395	0.16304	.	.	.	.	.	T	0.00784	0.0026	N	0.14661	0.345	0.09310	N	1	P	0.47910	0.902	B	0.41510	0.359	T	0.57300	-0.7835	9	0.27082	T	0.32	.	10.866	0.46856	0.0:0.5374:0.3919:0.0707	.	577	Q8IVF2	AHNK2_HUMAN	K	577	ENSP00000353114:E577K	ENSP00000353114:E577K	E	-	1	0	AHNAK2	104491104	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.083000	0.11286	-0.153000	0.11137	0.561000	0.74099	GAA		PASS	0.502	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		38	422	38	422	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105421375	105421375	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:105421375G>C	ENST00000333244.5	-	6	689	c.570C>G	c.(568-570)atC>atG	p.I190M	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	190	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.I190M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGCCGTCTGATTTTGAACT	0.507																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)ATC>ATG		AHNAK nucleoprotein 2							54.0	57.0	56.0					14																	105421375		1956	4137	6093	SO:0001583	missense	113146					nucleus		g.chr14:105421375G>C	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.570C>G	14.37:g.105421375G>C	ENSP00000353114:p.Ile190Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.I90M	p.I190M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	690	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	190			PDZ.		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.570C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.56	2.868635	0.51588	.	.	ENSG00000185567	ENST00000333244	T	0.50001	0.76	4.83	3.92	0.45320	PDZ/DHR/GLGF (2);	0.094982	0.43579	U	0.000560	T	0.52613	0.1745	L	0.43152	1.355	0.09310	N	1	D	0.63880	0.993	P	0.62740	0.906	T	0.41106	-0.9527	10	0.72032	D	0.01	.	6.8605	0.24064	0.1529:0.1517:0.6954:0.0	.	190	Q8IVF2	AHNK2_HUMAN	M	190	ENSP00000353114:I190M	ENSP00000353114:I190M	I	-	3	3	AHNAK2	104492420	0.948000	0.32251	0.062000	0.19696	0.075000	0.17131	1.251000	0.32862	2.518000	0.84900	0.650000	0.86243	ATC		PASS	0.507	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		30	58	30	58	---	---	---	---
IGHG4	3503	broad.mit.edu	37	14	106091400	106091400	+	RNA	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:106091400T>C	ENST00000390543.2	-	0	493							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CTTGGCATTATGCACCTCCAC	0.612																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							219.0	268.0	251.0					14																	106091400		2183	4279	6462			8755							g.chr14:106091400T>C	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091400T>C						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron								3647		-									RNA	SNP	ENST00000390543.2	37	c.62108A>G																																																																																					PASS	0.612	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		47	355	47	355	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	C	T	rs528633029	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr14:106691922C>T	ENST00000390607.2	-	0	180									immunoglobulin heavy variable 3-21																		TCAGGGACCCCCCAGGCTTGA	0.587													c|||	9	0.00179712	0.0061	0.0014	5008	,	,		10340	0.0		0.0	False		,,,				2504	0.0					uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							102.0	96.0	98.0					14																	106691922		1874	4103	5977			8755							g.chr14:106691922C>T	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691922C>T														754		-									RNA	SNP	ENST00000390607.2	37	c.20441G>A																																																																																					PASS	0.587	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		5	217	5	217	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	26026276	26026276	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:26026276G>A	ENST00000356865.6	-	2	655	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	182					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.L182L(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)		GAGAGCAGCAGAATGTCCGCA	0.557																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(544-546)CTG>TTG		ATPase, class V, type 10A							109.0	106.0	107.0					15																	26026276		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.chr15:26026276G>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.544C>T	15.37:g.26026276G>A							p.L182L	NM_024490	NP_077816	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	650	-		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)	182			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.544C>T	CCDS32178.1																																																																																				PASS	0.557	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	92	4	92	---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35044789	35044789	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:35044789C>T	ENST00000290374.4	-	2	1332	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	286					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.G286R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCTGAGCCCCTCGCACAGCC	0.512																																						uc001zis.1																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)GGG>AGG		gap junction protein, delta 2, 36kDa							114.0	95.0	102.0					15																	35044789		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044789C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.856G>A	15.37:g.35044789C>T	ENSP00000290374:p.Gly286Arg					uc001zit.1_5'Flank	p.G286R	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	856	-		all_lung(180;9.67e-07)	286			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.856G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975149	0.74360	.	.	ENSG00000159248	ENST00000290374	D	0.97976	-4.64	5.86	5.86	0.93980	.	0.081802	0.49916	D	0.000122	D	0.97222	0.9092	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.95653	0.8708	10	0.18710	T	0.47	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	286	Q9UKL4	CXD2_HUMAN	R	286	ENSP00000290374:G286R	ENSP00000290374:G286R	G	-	1	0	GJD2	32832081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GGG		PASS	0.512	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			5	103	5	103	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40949569	40949569	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:40949569C>T	ENST00000346991.5	+	25	7079	c.6689C>T	c.(6688-6690)tCa>tTa	p.S2230L	CASC5_ENST00000399668.2_Missense_Mutation_p.S2204L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2230	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)		p.S2230L(1)		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)		GAAGAATTCTCACTGGTAGTG	0.333																																						uc010bbs.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)|skin(1)	5						c.(6688-6690)TCA>TTA		cancer susceptibility candidate 5 isoform 1							101.0	96.0	97.0					15																	40949569		1822	4087	5909	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.chr15:40949569C>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.6689C>T	15.37:g.40949569C>T	ENSP00000335463:p.Ser2230Leu					CASC5_uc010bbt.1_Missense_Mutation_p.S2204L	p.S2230L	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	25	6850	+		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)	2230			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6689C>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865924	0.71949	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	.	0.309371	0.25089	U	0.033222	T	0.41511	0.1162	M	0.64997	1.995	0.46336	D	0.998999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10894	-1.0610	10	0.87932	D	0	.	16.8999	0.86110	0.0:1.0:0.0:0.0	.	2204;2230	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	L	2230;2204	ENSP00000335463:S2230L;ENSP00000382576:S2204L	ENSP00000335463:S2230L	S	+	2	0	CASC5	38736861	0.997000	0.39634	0.931000	0.37212	0.548000	0.35241	4.365000	0.59486	2.728000	0.93425	0.650000	0.86243	TCA		PASS	0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		8	164	8	164	---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43654029	43654029	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:43654029G>A	ENST00000396976.2	-	5	1935	c.1801C>T	c.(1801-1803)Ctt>Ttt	p.L601F	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.L212F|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.L211F|ZSCAN29_ENST00000562072.1_Silent_p.I529I	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	601					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L601F(1)		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)		CCCTGATGAAGATACCGGGGA	0.433																																						uc001zrk.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1801-1803)CTT>TTT		zinc finger protein 690							133.0	127.0	129.0					15																	43654029		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43654029G>A	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.1801C>T	15.37:g.43654029G>A	ENSP00000380174:p.Leu601Phe					ZSCAN29_uc001zrj.1_Missense_Mutation_p.L481F|ZSCAN29_uc010bdf.1_Silent_p.I529I|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.L211F	p.L601F	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	1948	-		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)	601					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.1801C>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.607011	0.00842	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08458	3.09;3.11	4.87	0.447	0.16608	.	1.132010	0.06557	N	0.746035	T	0.05181	0.0138	L	0.28740	0.885	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.45101	-0.9284	10	0.09590	T	0.72	0.44	2.1835	0.03880	0.1975:0.1609:0.4883:0.1533	.	212;601	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	F	601;212	ENSP00000380174:L601F;ENSP00000380170:L212F	ENSP00000380170:L212F	L	-	1	0	ZSCAN29	41441321	0.000000	0.05858	0.096000	0.21009	0.105000	0.19272	-1.550000	0.02180	0.221000	0.20879	0.655000	0.94253	CTT		PASS	0.433	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		8	225	8	225	---	---	---	---
CTDSPL2	51496	broad.mit.edu	37	15	44751303	44751303	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:44751303G>C	ENST00000260327.4	+	2	654	c.91G>C	c.(91-93)Gat>Cat	p.D31H	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D31H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D31H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D31H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	31							phosphoprotein phosphatase activity (GO:0004721)	p.D31H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TTCAGAGGTTGATGATAGCCT	0.408																																						uc001ztr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAT>CAT		CTD (carboxy-terminal domain, RNA polymerase II,							100.0	104.0	103.0					15																	44751303		2198	4298	6496	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44751303G>C	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.91G>C	15.37:g.44751303G>C	ENSP00000260327:p.Asp31His					CTDSPL2_uc001zts.2_Missense_Mutation_p.D31H|CTDSPL2_uc001ztt.2_Missense_Mutation_p.D31H|CTDSPL2_uc010bdv.2_Missense_Mutation_p.D31H	p.D31H	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	2	507	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	31					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.91G>C	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631288	0.67015	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79940	-1.32;-1.32	5.28	5.28	0.74379	.	0.192702	0.53938	D	0.000050	T	0.73393	0.3581	N	0.19112	0.55	0.58432	D	0.999994	B;B	0.31009	0.226;0.303	B;B	0.34873	0.191;0.131	T	0.73023	-0.4113	10	0.49607	T	0.09	-13.1551	18.9057	0.92460	0.0:0.0:1.0:0.0	.	31;31	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	31	ENSP00000260327:D31H;ENSP00000380000:D31H	ENSP00000260327:D31H	D	+	1	0	CTDSPL2	42538595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.412000	0.97347	2.464000	0.83262	0.650000	0.86243	GAT		PASS	0.408	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		5	127	5	127	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59191709	59191709	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:59191709C>T	ENST00000380516.2	-	7	1104	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	339					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.K339K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGGCCCTTTCTTCAAAGTAT	0.438																																						uc002afp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1015-1017)AAG>AAA		modulator of estrogen induced transcription							87.0	91.0	90.0					15																	59191709		2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59191709C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1017G>A	15.37:g.59191709C>T						SLTM_uc002afo.2_Silent_p.K321K|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Silent_p.K238K	p.K339K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			7	1105	-			339					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.1017G>A	CCDS10168.2																																																																																				PASS	0.438	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		16	114	16	114	---	---	---	---
CT62	196993	broad.mit.edu	37	15	71404515	71404515	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:71404515G>A	ENST00000449977.2	-	3	613	c.107C>T	c.(106-108)tCc>tTc	p.S36F	CT62_ENST00000566432.1_Missense_Mutation_p.S36F|THSD4_ENST00000355327.3_Intron	NM_001102658.1	NP_001096128.1	P0C5K7	CT62_HUMAN	cancer/testis antigen 62	36								p.S36F(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGGCTGGGAACCACAGGA	0.552																																						uc002ata.2																			2	Substitution - Missense(2)		NS(1)|lung(1)		0						c.(106-108)TCC>TTC		cancer/testis antigen 62							102.0	118.0	113.0					15																	71404515		2066	4207	6273	SO:0001583	missense	196993							g.chr15:71404515G>A	BC039359, AL080151	CCDS45295.1	15q23	2011-03-09			ENSG00000225362	ENSG00000225362			27286	protein-coding gene	gene with protein product						15905330	Standard	NM_001102658		Approved		uc002ata.2	P0C5K7		ENST00000449977.2:c.107C>T	15.37:g.71404515G>A	ENSP00000399356:p.Ser36Phe						p.S36F	NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN			3	620	-			36						Missense_Mutation	SNP	ENST00000449977.2	37	c.107C>T	CCDS45295.1	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983589	0.18889	.	.	ENSG00000225362	ENST00000449977	.	.	.	2.99	-0.0776	0.13718	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	P	0.47744	0.556	T	0.10800	-1.0614	8	0.72032	D	0.01	.	3.3873	0.07276	0.2635:0.2179:0.5186:0.0	.	36	P0C5K7	CT62_HUMAN	F	36	.	ENSP00000399356:S36F	S	-	2	0	CT62	69191569	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.182000	0.09726	-0.009000	0.14296	-0.145000	0.13849	TCC		PASS	0.552	CT62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420810.1	NM_001102658		4	42	4	42	---	---	---	---
HEXA	3073	broad.mit.edu	37	15	72641494	72641494	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:72641494G>C	ENST00000268097.5	-	8	1415	c.912C>G	c.(910-912)ttC>ttG	p.F304L	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Missense_Mutation_p.F112L|HEXA_ENST00000567159.1_Missense_Mutation_p.F304L|HEXA_ENST00000566304.1_Missense_Mutation_p.F315L|HEXA_ENST00000429918.2_Missense_Mutation_p.F131L|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	304			Missing (in GM2G1; infantile; Moroccan Jewish). {ECO:0000269|PubMed:9338583}.		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)	p.F304L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTTCTAAGAAGAATGTGCTCA	0.463																																						uc002aun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(910-912)TTC>TTG		hexosaminidase A preproprotein							90.0	86.0	87.0					15																	72641494		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72641494G>C	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.912C>G	15.37:g.72641494G>C	ENSP00000268097:p.Phe304Leu					uc002aug.2_Intron|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Missense_Mutation_p.F315L|HEXA_uc002auo.3_Missense_Mutation_p.F167L|HEXA_uc010bix.2_Missense_Mutation_p.F304L|HEXA_uc010biy.2_Missense_Mutation_p.F167L|HEXA_uc010uko.1_Missense_Mutation_p.F130L|HEXA_uc010biz.1_RNA	p.F304L	NM_000520	NP_000511	P06865	HEXA_HUMAN			8	1119	-			304		Missing (in GM2G1; infantile; Moroccan Jewish).			B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.912C>G	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	G	6.104	0.387389	0.11581	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.94046	-3.34;-3.34;-3.34	5.61	-1.31	0.09230	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.309728	0.34777	N	0.003688	T	0.73410	0.3583	N	0.01809	-0.71	0.30463	N	0.774098	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.14023	0.002;0.009;0.002;0.003;0.01	T	0.66838	-0.5822	10	0.07175	T	0.84	-12.7778	3.5169	0.07728	0.4982:0.1144:0.2816:0.1058	.	131;315;131;184;304	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	L	304;112;131	ENSP00000268097:F304L;ENSP00000398026:F112L;ENSP00000416187:F131L	ENSP00000268097:F304L	F	-	3	2	HEXA	70428548	0.996000	0.38824	0.790000	0.31976	0.946000	0.59487	0.348000	0.20031	-0.224000	0.09928	-0.140000	0.14226	TTC		PASS	0.463	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		13	69	13	69	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74573116	74573116	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:74573116C>A	ENST00000398814.3	+	9	1428	c.997C>A	c.(997-999)Ctt>Att	p.L333I	CCDC33_ENST00000321288.5_Missense_Mutation_p.L536I	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	536								p.L536I(1)|p.L333I(1)		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						CTTGGACGGGCTTCACGTGGA	0.652																																						uc002axo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(997-999)CTT>ATT		coiled-coil domain containing 33 isoform 1							63.0	72.0	69.0					15																	74573116		1974	4146	6120	SO:0001583	missense	80125						protein binding	g.chr15:74573116C>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.997C>A	15.37:g.74573116C>A	ENSP00000381795:p.Leu333Ile					CCDC33_uc002axp.2_Missense_Mutation_p.L155I	p.L333I	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			9	1391	+			536					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.997C>A	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755581	0.31046	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.34472	1.36;1.74	5.51	2.34	0.29019	.	0.245467	0.27816	N	0.017736	T	0.51822	0.1697	M	0.73598	2.24	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.991;0.996	T	0.34925	-0.9809	10	0.48119	T	0.1	.	4.3589	0.11192	0.0:0.5992:0.1839:0.2169	.	536;333	C9JFX2;Q8N5R6-6	.;.	I	536;333	ENSP00000325012:L536I;ENSP00000381795:L333I	ENSP00000325012:L536I	L	+	1	0	CCDC33	72360169	0.906000	0.30813	0.119000	0.21687	0.049000	0.14656	0.970000	0.29383	0.545000	0.28902	0.591000	0.81541	CTT		PASS	0.652	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		32	58	32	58	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75762311	75762311	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:75762311G>C	ENST00000306726.2	-	12	1901	c.1389C>G	c.(1387-1389)ttC>ttG	p.F463L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	463	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.F463L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAAGAACTGGAAGTGGGTCA	0.498																																						uc002bal.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1387-1389)TTC>TTG		protein tyrosine phosphatase, non-receptor type							105.0	82.0	89.0					15																	75762311		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75762311G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1389C>G	15.37:g.75762311G>C	ENSP00000303554:p.Phe463Leu						p.F463L	NM_002833	NP_002824	P43378	PTN9_HUMAN			12	1897	-			463			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1389C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088893	0.55968	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.14266	2.52	5.78	1.64	0.23874	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.098160	0.64402	N	0.000001	T	0.09642	0.0237	L	0.35723	1.085	0.54753	D	0.999982	B	0.21606	0.058	B	0.26094	0.066	T	0.17837	-1.0356	10	0.38643	T	0.18	.	4.4582	0.11654	0.3321:0.0:0.5175:0.1504	.	463	P43378	PTN9_HUMAN	L	463;453	ENSP00000303554:F463L	ENSP00000303554:F463L	F	-	3	2	PTPN9	73549364	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.829000	0.48128	0.295000	0.22570	0.655000	0.94253	TTC		PASS	0.498	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			11	68	11	68	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75763113	75763113	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:75763113G>C	ENST00000306726.2	-	11	1779	c.1267C>G	c.(1267-1269)Cgg>Ggg	p.R423G		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	423	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.R423G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATCGGATCCGAGAGTCTTTT	0.463																																						uc002bal.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1267-1269)CGG>GGG		protein tyrosine phosphatase, non-receptor type							126.0	119.0	122.0					15																	75763113		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75763113G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1267C>G	15.37:g.75763113G>C	ENSP00000303554:p.Arg423Gly						p.R423G	NM_002833	NP_002824	P43378	PTN9_HUMAN			11	1775	-			423			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1267C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546061	0.45383	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.13778	2.56	5.87	5.87	0.94306	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.263712	0.39475	N	0.001360	T	0.16471	0.0396	L	0.52364	1.645	0.43061	D	0.994689	B	0.31435	0.323	B	0.37047	0.24	T	0.03576	-1.1023	10	0.29301	T	0.29	.	12.1458	0.54022	0.0782:0.0:0.9218:0.0	.	423	P43378	PTN9_HUMAN	G	423;413	ENSP00000303554:R423G	ENSP00000303554:R423G	R	-	1	2	PTPN9	73550166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.039000	0.70972	2.780000	0.95670	0.655000	0.94253	CGG		PASS	0.463	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			17	109	17	109	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					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)	p.N1071S(4)		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						CTCGTGGAAATTGATGAAATT	0.617																																						uc002bej.3																			4	Substitution - Missense(4)		lung(2)|kidney(2)		0						c.(3211-3213)AAT>AGT		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>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.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser					ADAMTS7_uc010und.1_3'UTR	p.N1071S	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		PASS	0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		4	58	4	58	---	---	---	---
AP3B2	8120	broad.mit.edu	37	15	83349908	83349908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:83349908G>A	ENST00000261722.3	-	6	751	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	AP3B2_ENST00000535359.1_Nonsense_Mutation_p.Q182*|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.Q150*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	182					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)	p.Q182*(1)		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)			TCTATCAGCTGATCCTTCTGG	0.577																																						uc010uoh.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(544-546)CAG>TAG		adaptor-related protein complex 3, beta 2							36.0	36.0	36.0					15																	83349908		2002	4174	6176	SO:0001587	stop_gained	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83349908G>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.544C>T	15.37:g.83349908G>A	ENSP00000261722:p.Gln182*					AP3B2_uc010uoi.1_Nonsense_Mutation_p.Q182*|AP3B2_uc010uoj.1_Nonsense_Mutation_p.Q150*|AP3B2_uc010uog.1_5'Flank	p.Q182*	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		6	721	-			182					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Nonsense_Mutation	SNP	ENST00000261722.3	37	c.544C>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	38	6.892577	0.97916	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	.	.	.	5.62	5.62	0.85841	.	0.119442	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-26.7787	19.653	0.95825	0.0:0.0:1.0:0.0	.	.	.	.	X	182;150;182;138	.	ENSP00000261722:Q182X	Q	-	1	0	AP3B2	81146962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.838000	0.99474	2.642000	0.89623	0.563000	0.77884	CAG		PASS	0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			3	19	3	19	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383714	85383714	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:85383714G>T	ENST00000258888.5	+	5	1977	c.1810G>T	c.(1810-1812)Gcc>Tcc	p.A604S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	604					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A604S(2)		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)			GGCCCAGAAGGCCCCTGGCCC	0.637																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(1810-1812)GCC>TCC		alpha-kinase 3							21.0	23.0	22.0					15																	85383714		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383714G>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.1810G>T	15.37:g.85383714G>T	ENSP00000258888:p.Ala604Ser						p.A604S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1977	+			604					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.1810G>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936671	0.18206	.	.	ENSG00000136383	ENST00000258888	T	0.60548	0.18	3.68	-0.478	0.12093	.	0.951319	0.08722	N	0.903397	T	0.38746	0.1052	N	0.24115	0.695	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.25676	-1.0125	10	0.40728	T	0.16	-1.1704	6.0557	0.19811	0.5442:0.0:0.4558:0.0	.	604	Q96L96	ALPK3_HUMAN	S	604	ENSP00000258888:A604S	ENSP00000258888:A604S	A	+	1	0	ALPK3	83184718	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	0.024000	0.13555	0.034000	0.15491	-0.251000	0.11542	GCC		PASS	0.637	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		10	38	10	38	---	---	---	---
CIB1	10519	broad.mit.edu	37	15	90774374	90774374	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:90774374C>T	ENST00000328649.6	-	5	579	c.418G>A	c.(418-420)Gag>Aag	p.E140K	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	140					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.E140K(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)			CGTGTGTCCTCGCCCTCTCCC	0.582																																						uc002bpb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)GAG>AAG		calcium and integrin binding 1							88.0	87.0	88.0					15																	90774374		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774374C>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	ENST00000328649.6:c.418G>A	15.37:g.90774374C>T	ENSP00000333873:p.Glu140Lys						p.E140K	NM_006384	NP_006375	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	580	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		140					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.418G>A	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334859	0.41297	.	.	ENSG00000185043	ENST00000328649	T	0.70631	-0.5	5.44	3.38	0.38709	EF-hand-like domain (1);	0.171174	0.50627	D	0.000102	T	0.50888	0.1642	L	0.34521	1.04	0.41209	D	0.986427	P	0.47910	0.902	B	0.35470	0.203	T	0.57579	-0.7787	10	0.06365	T	0.9	-26.1349	15.1082	0.72336	0.0:0.7671:0.2329:0.0	.	140	Q99828	CIB1_HUMAN	K	140	ENSP00000333873:E140K	ENSP00000333873:E140K	E	-	1	0	CIB1	88575378	0.964000	0.33143	1.000000	0.80357	0.464000	0.32679	3.210000	0.51129	2.558000	0.86282	0.655000	0.94253	GAG		PASS	0.582	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			29	116	29	116	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91020916	91020916	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:91020916C>G	ENST00000268182.5	+	26	3248	c.3124C>G	c.(3124-3126)Caa>Gaa	p.Q1042E	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q470E	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1042	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				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)	p.Q1042E(1)		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)			AGATCAGATTCAAGAGATTGT	0.403																																						uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3124-3126)CAA>GAA		IQ motif containing GTPase activating protein 1							78.0	81.0	80.0					15																	91020916		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.chr15:91020916C>G	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.3124C>G	15.37:g.91020916C>G	ENSP00000268182:p.Gln1042Glu						p.Q1042E	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		26	3225	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1042			Ras-GAP.|C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3124C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957173	0.53293	.	.	ENSG00000140575	ENST00000268182	T	0.78924	-1.22	5.86	5.86	0.93980	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.126462	0.53938	D	0.000045	T	0.77322	0.4113	M	0.64997	1.995	0.54753	D	0.999987	B	0.21071	0.051	B	0.24155	0.051	T	0.70791	-0.4776	10	0.27785	T	0.31	-17.2121	19.1654	0.93555	0.0:1.0:0.0:0.0	.	1042	P46940	IQGA1_HUMAN	E	1042	ENSP00000268182:Q1042E	ENSP00000268182:Q1042E	Q	+	1	0	IQGAP1	88821920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.100000	0.71473	2.778000	0.95560	0.655000	0.94253	CAA		PASS	0.403	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		13	148	13	148	---	---	---	---
FURIN	5045	broad.mit.edu	37	15	91423120	91423120	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:91423120C>G	ENST00000268171.3	+	12	1561	c.1282C>G	c.(1282-1284)Ctt>Gtt	p.L428V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	428	Peptidase S8.				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)	p.L428V(1)		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)			TGGCTACGGGCTTTTGGACGC	0.617																																						uc002bpu.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(1282-1284)CTT>GTT		furin preproprotein							48.0	51.0	50.0					15																	91423120		2198	4298	6496	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.chr15:91423120C>G	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.1282C>G	15.37:g.91423120C>G	ENSP00000268171:p.Leu428Val						p.L428V	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		12	1498	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		428					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.1282C>G	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.331956	0.41297	.	.	ENSG00000140564	ENST00000268171;ENST00000535252	D	0.88277	-2.36	4.65	-0.468	0.12146	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	D	0.65443	0.935	D	0.88911	0.3359	10	0.66056	D	0.02	-7.5671	10.6644	0.45721	0.0:0.719:0.0:0.281	.	428	P09958	FURIN_HUMAN	V	428;27	ENSP00000268171:L428V	ENSP00000268171:L428V	L	+	1	0	FURIN	89224124	0.996000	0.38824	0.260000	0.24451	0.722000	0.41435	1.404000	0.34623	-0.250000	0.09555	0.485000	0.47835	CTT		PASS	0.617	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		36	82	36	82	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101718886	101718886	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr15:101718886C>G	ENST00000254190.3	-	3	1591	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	372					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	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)	p.E372D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTCCAGAATCTCCTCTCGCT	0.532																																						uc002bwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)GAG>GAC		chondroitin sulfate synthase 1							69.0	71.0	70.0					15																	101718886		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	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.chr15:101718886C>G	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1116G>C	15.37:g.101718886C>G	ENSP00000254190:p.Glu372Asp					CHSY1_uc010usd.1_Missense_Mutation_p.E100D	p.E372D	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1599	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		372			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1116G>C	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700485	0.30142	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.16324	2.35	5.62	5.62	0.85841	.	0.060734	0.64402	D	0.000004	T	0.15003	0.0362	L	0.31804	0.96	0.52501	D	0.999958	B	0.13594	0.008	B	0.23150	0.044	T	0.10109	-1.0644	10	0.08837	T	0.75	-66.565	19.6614	0.95875	0.0:1.0:0.0:0.0	.	372	Q86X52	CHSS1_HUMAN	D	372;100	ENSP00000254190:E372D	ENSP00000254190:E372D	E	-	3	2	CHSY1	99536409	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.267000	0.18552	2.633000	0.89246	0.655000	0.94253	GAG		PASS	0.532	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		38	96	38	96	---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254937	3254937	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:3254937A>G	ENST00000304646.2	+	1	691	c.691A>G	c.(691-693)Aca>Gca	p.T231A	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	231					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)	p.T231A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GGTCCCATCCACAAAGGGAAG	0.498																																						uc010uwu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)ACA>GCA		olfactory receptor, family 1, subfamily F,							193.0	169.0	177.0					16																	3254937		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254937A>G	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.691A>G	16.37:g.3254937A>G	ENSP00000305424:p.Thr231Ala						p.T231A	NM_012360	NP_036492	O43749	OR1F1_HUMAN			1	691	+			231			Cytoplasmic (Potential).		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.691A>G	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.556868	0.00138	.	.	ENSG00000168124	ENST00000304646	T	0.00032	8.88	5.06	-3.23	0.05109	GPCR, rhodopsin-like superfamily (1);	0.788618	0.11360	N	0.571968	T	0.00039	0.0001	N	0.01522	-0.82	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.32161	-0.9917	10	0.02654	T	1	.	1.7806	0.03031	0.2561:0.342:0.2757:0.1263	.	231	O43749	OR1F1_HUMAN	A	231	ENSP00000305424:T231A	ENSP00000305424:T231A	T	+	1	0	OR1F1	3194938	0.000000	0.05858	0.001000	0.08648	0.244000	0.25665	-1.477000	0.02331	-0.619000	0.05648	0.323000	0.21402	ACA		PASS	0.498	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			49	137	49	137	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3633150	3633150	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:3633150C>G	ENST00000294008.3	-	14	5741	c.5101G>C	c.(5101-5103)Gaa>Caa	p.E1701Q	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1701	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				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)	p.E1701Q(1)		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						GCCACGGATTCTTGAGAGGCT	0.577								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5101-5103)GAA>CAA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							128.0	118.0	122.0					16																	3633150		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			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.chr16:3633150C>G	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.5101G>C	16.37:g.3633150C>G	ENSP00000294008:p.Glu1701Gln						p.E1701Q	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			14	5728	-			1701			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5101G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093958	0.56075	.	.	ENSG00000188827	ENST00000294008	T	0.01265	5.08	5.4	3.24	0.37175	.	0.123439	0.52532	D	0.000067	T	0.02342	0.0072	N	0.25485	0.75	0.27801	N	0.942484	D	0.59767	0.986	P	0.53954	0.738	T	0.43845	-0.9366	10	0.52906	T	0.07	.	10.2378	0.43294	0.0:0.7871:0.0:0.2129	.	1701	Q8IY92	SLX4_HUMAN	Q	1701	ENSP00000294008:E1701Q	ENSP00000294008:E1701Q	E	-	1	0	SLX4	3573151	0.984000	0.35163	0.974000	0.42286	0.831000	0.47069	0.714000	0.25808	1.288000	0.44600	0.655000	0.94253	GAA		PASS	0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		15	141	15	141	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3778105	3778105	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:3778105T>A	ENST00000262367.5	-	31	7752	c.6943A>T	c.(6943-6945)Agc>Tgc	p.S2315C	CREBBP_ENST00000382070.3_Missense_Mutation_p.S2277C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2315					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)	p.S2315C(1)		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)		TGCTGGGGGCTCATGGGGTTC	0.627			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				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 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(6943-6945)AGC>TGC		CREB binding protein isoform a							74.0	78.0	77.0					16																	3778105		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			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.chr16:3778105T>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.6943A>T	16.37:g.3778105T>A	ENSP00000262367:p.Ser2315Cys					CREBBP_uc002cvw.2_Missense_Mutation_p.S2277C	p.S2315C	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7147	-		Ovarian(90;0.0266)	2315					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6943A>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	12.06	1.824201	0.32237	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.89196	-2.48;-2.43	5.35	5.35	0.76521	.	0.052095	0.85682	D	0.000000	D	0.91192	0.7225	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.92170	0.5743	10	0.62326	D	0.03	-14.573	15.6389	0.76981	0.0:0.0:0.0:1.0	.	2345;2315	Q4LE28;Q92793	.;CBP_HUMAN	C	2315;2345;2277;850	ENSP00000262367:S2315C;ENSP00000371502:S2277C	ENSP00000262367:S2315C	S	-	1	0	CREBBP	3718106	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.910000	0.87451	2.156000	0.67533	0.533000	0.62120	AGC		PASS	0.627	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		20	113	20	113	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3779748	3779748	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:3779748G>A	ENST00000262367.5	-	31	6109	c.5300C>T	c.(5299-5301)tCa>tTa	p.S1767L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1729L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1767	Interaction with TRERF1.				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)	p.S1767L(1)		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)		CAGCCGGCGTGACTCCTGGGG	0.642			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				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 		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5299-5301)TCA>TTA		CREB binding protein isoform a							39.0	37.0	37.0					16																	3779748		2197	4299	6496	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			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.chr16:3779748G>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.5300C>T	16.37:g.3779748G>A	ENSP00000262367:p.Ser1767Leu					CREBBP_uc002cvw.2_Missense_Mutation_p.S1729L	p.S1767L	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	5504	-		Ovarian(90;0.0266)	1767			TAZ-type 2.|Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5300C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	10.39	1.337125	0.24253	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.84516	-1.86;-1.78	5.35	5.35	0.76521	Zinc finger, TAZ-type (4);	0.000000	0.64402	D	0.000004	D	0.84897	0.5574	L	0.46157	1.445	0.58432	D	0.999996	P;P	0.47762	0.9;0.9	P;P	0.46452	0.517;0.517	D	0.83786	0.0228	10	0.33940	T	0.23	-13.8637	19.0688	0.93123	0.0:0.0:1.0:0.0	.	1797;1767	Q4LE28;Q92793	.;CBP_HUMAN	L	1767;1797;1729;302	ENSP00000262367:S1767L;ENSP00000371502:S1729L	ENSP00000262367:S1767L	S	-	2	0	CREBBP	3719749	1.000000	0.71417	0.951000	0.38953	0.771000	0.43674	4.704000	0.61831	2.513000	0.84729	0.591000	0.81541	TCA		PASS	0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	39	5	39	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4863804	4863804	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:4863804G>A	ENST00000321919.9	-	12	1129	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	GLYR1_ENST00000381983.3_Silent_p.I334I|GLYR1_ENST00000591451.1_Silent_p.I345I|GLYR1_ENST00000436648.5_Silent_p.I270I	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	351					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.I351I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCCAGGGCGGATCCCTTGCA	0.627																																						uc002cxx.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1051-1053)ATC>ATT		cytokine-like nuclear factor n-pac							70.0	52.0	58.0					16																	4863804		2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4863804G>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1053C>T	16.37:g.4863804G>A						GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.I265I|GLYR1_uc002cya.2_Silent_p.I345I|GLYR1_uc010uxv.1_Silent_p.I270I	p.I351I	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			12	1090	-			351					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.1053C>T	CCDS10524.1																																																																																				PASS	0.627	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		5	32	5	32	---	---	---	---
SEC14L5	9717	broad.mit.edu	37	16	5055943	5055943	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:5055943G>T	ENST00000251170.7	+	12	1511	c.1331G>T	c.(1330-1332)aGg>aTg	p.R444M		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	444	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.R444M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAGAACACCAGGCGGAAGTTC	0.488																																						uc002cye.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1330-1332)AGG>ATG		SEC14-like 5							41.0	44.0	43.0					16																	5055943		1927	4123	6050	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5055943G>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.1331G>T	16.37:g.5055943G>T	ENSP00000251170:p.Arg444Met						p.R444M	NM_014692	NP_055507	O43304	S14L5_HUMAN			12	1511	+			444			CRAL-TRIO.			Missense_Mutation	SNP	ENST00000251170.7	37	c.1331G>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445707	0.63178	.	.	ENSG00000103184	ENST00000251170	T	0.79352	-1.26	4.06	4.06	0.47325	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.070231	0.53938	D	0.000049	D	0.89255	0.6663	M	0.88512	2.96	0.80722	D	1	D	0.65815	0.995	D	0.70935	0.971	D	0.91543	0.5251	10	0.62326	D	0.03	-21.8906	16.431	0.83844	0.0:0.0:1.0:0.0	.	444	O43304	S14L5_HUMAN	M	444	ENSP00000251170:R444M	ENSP00000251170:R444M	R	+	2	0	SEC14L5	4995944	1.000000	0.71417	0.645000	0.29479	0.464000	0.32679	9.082000	0.94059	2.114000	0.64651	0.555000	0.69702	AGG		PASS	0.488	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			8	18	8	18	---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10775923	10775923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:10775923C>A	ENST00000283025.2	-	4	861	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	264						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E264*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCACTTCTCATCGATACAC	0.537																																						uc002czz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(790-792)GAG>TAG		tektin 5							291.0	222.0	246.0					16																	10775923		2197	4300	6497	SO:0001587	stop_gained	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10775923C>A		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.790G>T	16.37:g.10775923C>A	ENSP00000283025:p.Glu264*						p.E264*	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			4	862	-			264					A1L3Z3	Nonsense_Mutation	SNP	ENST00000283025.2	37	c.790G>T	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562056	0.86335	.	.	ENSG00000153060	ENST00000283025	.	.	.	5.06	4.1	0.47936	.	0.216583	0.32081	N	0.006612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-24.2924	14.2847	0.66238	0.0:0.85:0.15:0.0	.	.	.	.	X	264	.	ENSP00000283025:E264X	E	-	1	0	TEKT5	10683424	0.999000	0.42202	0.770000	0.31555	0.021000	0.10359	4.238000	0.58688	1.109000	0.41680	-0.304000	0.09214	GAG		PASS	0.537	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		36	231	36	231	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18827768	18827768	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:18827768C>G	ENST00000446231.2	-	58	10570	c.10158G>C	c.(10156-10158)caG>caC	p.Q3386H	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3387H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3386					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q3386H(1)|p.Q3382H(1)		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						GAATTGCCCTCTGAGTAGACA	0.423																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(10156-10158)CAG>CAC		PI-3-kinase-related kinase SMG-1							112.0	105.0	107.0					16																	18827768		1911	4128	6039	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.chr16:18827768C>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.10158G>C	16.37:g.18827768C>G	ENSP00000402515:p.Gln3386His					SMG1_uc010bwb.2_Missense_Mutation_p.Q3246H|SMG1_uc010bwa.2_Missense_Mutation_p.Q2117H	p.Q3386H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			58	10521	-			3386					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10158G>C	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881513	0.51908	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01165	5.24;5.24	6.17	2.75	0.32379	.	0.000000	0.64402	D	0.000003	T	0.01029	0.0034	N	0.14661	0.345	0.31122	N	0.70877	P	0.45902	0.868	B	0.42827	0.399	T	0.53005	-0.8499	10	0.44086	T	0.13	.	10.5578	0.45127	0.0:0.7154:0.0:0.2846	.	3386	Q96Q15	SMG1_HUMAN	H	3386;3387	ENSP00000402515:Q3386H;ENSP00000374118:Q3387H	ENSP00000374118:Q3387H	Q	-	3	2	SMG1	18735269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.816000	0.48026	0.921000	0.36994	0.655000	0.94253	CAG		PASS	0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	80	5	80	---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19501728	19501728	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:19501728C>T	ENST00000396229.2	+	18	3334	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	TMC5_ENST00000381414.4_Intron|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.S810L|TMC5_ENST00000542583.2_Missense_Mutation_p.S862L|TMC5_ENST00000219821.5_Missense_Mutation_p.S616L|TMC5_ENST00000561503.1_Missense_Mutation_p.S503L|TMC5_ENST00000564959.1_Missense_Mutation_p.S545L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	862					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S862L(1)|p.S616L(1)		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						TTGAAGCCTTCAGCTGACTGT	0.507																																						uc002dgc.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2584-2586)TCA>TTA		transmembrane channel-like 5 isoform a							180.0	157.0	165.0					16																	19501728		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19501728C>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.2585C>T	16.37:g.19501728C>T	ENSP00000379531:p.Ser862Leu					TMC5_uc010vaq.1_Missense_Mutation_p.S810L|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.S862L|TMC5_uc002dgd.1_Missense_Mutation_p.S616L|TMC5_uc002dge.3_Missense_Mutation_p.S616L|TMC5_uc002dgf.3_Missense_Mutation_p.S545L|TMC5_uc002dgg.3_Missense_Mutation_p.S503L	p.S862L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			18	3334	+			862			Cytoplasmic (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2585C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761393	0.89932	.	.	ENSG00000103534	ENST00000541464;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;D;D;D	0.83837	-1.34;-1.66;-1.66;-1.77	5.41	5.41	0.78517	.	.	.	.	.	D	0.92264	0.7546	M	0.86028	2.79	0.53688	D	0.999978	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;0.994;0.999;0.998;0.999	D	0.93213	0.6602	9	0.87932	D	0	-7.2132	18.7745	0.91904	0.0:1.0:0.0:0.0	.	810;545;616;616;862	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8	.;.;.;.;TMC5_HUMAN	L	810;862;862;616;545	ENSP00000441227:S810L;ENSP00000379531:S862L;ENSP00000446274:S862L;ENSP00000219821:S616L	ENSP00000219821:S616L	S	+	2	0	TMC5	19409229	1.000000	0.71417	0.940000	0.37924	0.846000	0.48090	6.268000	0.72552	2.527000	0.85204	0.561000	0.74099	TCA		PASS	0.507	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		30	197	30	197	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19718331	19718331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:19718331C>T	ENST00000219837.7	-	5	1356	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Nonsense_Mutation_p.W105*	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	426	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.W426*(1)									GGCTGTACTTCCAGCTCATGG	0.592																																						uc002dgq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1276-1278)TGG>TGA		hypothetical protein LOC400506							77.0	84.0	82.0					16																	19718331		1873	4099	5972	SO:0001587	stop_gained	400506					nucleolus		g.chr16:19718331C>T	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.1278G>A	16.37:g.19718331C>T	ENSP00000219837:p.Trp426*						p.W426*	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN			5	1293	-			426			Interaction with ZFP106 (By similarity).		O43328|Q5FWF3	Nonsense_Mutation	SNP	ENST00000219837.7	37	c.1278G>A	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.506301	0.97620	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.87	4.87	0.63330	.	0.587019	0.18099	N	0.151743	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.2245	18.1987	0.89831	0.0:1.0:0.0:0.0	.	.	.	.	X	426	.	.	W	-	3	0	C16orf88	19625832	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	0.656000	0.24948	2.505000	0.84491	0.563000	0.77884	TGG		PASS	0.592	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		28	168	28	168	---	---	---	---
SULT1A1	6817	broad.mit.edu	37	16	28631386	28631386	+	De_novo_Start_InFrame	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:28631386T>C	ENST00000395609.1	-	0	491				SULT1A1_ENST00000350842.4_Missense_Mutation_p.M46V			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.M46V(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TGTCTTACCATATAGGTGTTC	0.318																																						uc002dqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(-69--65)ATATG>ATGTG		sulfotransferase family, cytosolic, 1A,							98.0	95.0	96.0					16																	28631386		2197	4300	6497			6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28631386T>C	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765		16.37:g.28631386T>C						uc010vct.1_Intron|SULT1A1_uc002dqm.2_Missense_Mutation_p.M46V|SULT1A1_uc002dqo.2_Translation_Start_Site|SULT1A1_uc002dqp.2_Translation_Start_Site		NM_177534	NP_803878	P50225	ST1A1_HUMAN			2	484	-								Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Translation_Start_Site	SNP	ENST00000395609.1	37	c.-67A>G	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	t	9.220	1.033218	0.19590	.	.	ENSG00000196502	ENST00000350842	D	0.81908	-1.55	1.01	1.01	0.19927	.	.	.	.	.	T	0.72550	0.3474	.	.	.	0.80722	D	1	B	0.19706	0.038	B	0.10450	0.005	T	0.66504	-0.5907	8	0.87932	D	0	.	4.2403	0.10645	0.0:0.0:0.0:1.0	.	46	P50225-2	.	V	46	ENSP00000329399:M46V	ENSP00000329399:M46V	M	-	1	0	SULT1A1	28538887	1.000000	0.71417	0.757000	0.31301	0.384000	0.30261	2.898000	0.48672	0.427000	0.26145	0.076000	0.15429	ATG		PASS	0.318	SULT1A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001055		12	48	12	48	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31075372	31075372	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:31075372C>G	ENST00000538906.1	-	2	1193	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000535577.1_Missense_Mutation_p.E137Q|ZNF668_ENST00000426488.2_Missense_Mutation_p.E160Q|ZNF668_ENST00000300849.4_Missense_Mutation_p.E137Q|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000539836.3_Missense_Mutation_p.E160Q|ZNF668_ENST00000394983.2_Missense_Mutation_p.E137Q	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	137					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.E137Q(1)|p.E160Q(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AAGGGCAGTTCGCCAGCGTGC	0.701																																					Colon(181;1111 1980 5060 10512 25785)	uc010caf.2																			2	Substitution - Missense(2)		lung(2)	breast(4)	4						c.(409-411)GAA>CAA		zinc finger protein 668							25.0	22.0	23.0					16																	31075372		2196	4297	6493	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075372C>G		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.409G>C	16.37:g.31075372C>G	ENSP00000440149:p.Glu137Gln					ZNF668_uc002eao.2_Missense_Mutation_p.E137Q|ZNF668_uc010cag.1_Missense_Mutation_p.E137Q	p.E137Q	NM_024706	NP_078982	Q96K58	ZN668_HUMAN			2	766	-			137					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.409G>C	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315844	0.40996	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	4.93	4.93	0.64822	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.060641	0.64402	D	0.000005	T	0.17662	0.0424	L	0.28740	0.885	0.44194	D	0.99701	P	0.38020	0.615	B	0.38020	0.263	T	0.02457	-1.1156	10	0.72032	D	0.01	-38.6299	12.877	0.57996	0.0:0.8358:0.1642:0.0	.	137	Q96K58	ZN668_HUMAN	Q	160;137;137;137;137	ENSP00000442573:E160Q;ENSP00000441349:E137Q;ENSP00000440149:E137Q;ENSP00000378434:E137Q;ENSP00000300849:E137Q	ENSP00000300849:E137Q	E	-	1	0	ZNF668	30982873	0.994000	0.37717	0.992000	0.48379	0.370000	0.29829	3.116000	0.50399	2.566000	0.86566	0.455000	0.32223	GAA		PASS	0.701	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		9	23	9	23	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31273035	31273035	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:31273035C>G	ENST00000287497.8	+	2	126	c.51C>G	c.(49-51)ttC>ttG	p.F17L	ITGAM_ENST00000544665.3_Missense_Mutation_p.F17L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	17					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.F17L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCATGGGTTCAACTTGGACA	0.527																																						uc002ebq.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(49-51)TTC>TTG		integrin alpha M isoform 2 precursor							73.0	67.0	69.0					16																	31273035		1994	4180	6174	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31273035C>G	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.51C>G	16.37:g.31273035C>G	ENSP00000287497:p.Phe17Leu					ITGAM_uc002ebr.2_Missense_Mutation_p.F17L	p.F17L	NM_000632	NP_000623	P11215	ITAM_HUMAN			2	149	+			17			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.51C>G	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394712	0.83011	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.81247	-1.47;-1.47	5.13	5.13	0.70059	.	.	.	.	.	D	0.91033	0.7179	M	0.91090	3.175	0.38920	D	0.95771	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.968	D	0.93403	0.6762	9	0.72032	D	0.01	.	14.1377	0.65297	0.0:1.0:0.0:0.0	.	17;17	Q4VAK1;P11215	.;ITAM_HUMAN	L	17	ENSP00000441691:F17L;ENSP00000287497:F17L	ENSP00000287497:F17L	F	+	3	2	ITGAM	31180536	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.803000	0.55560	2.407000	0.81776	0.650000	0.86243	TTC		PASS	0.527	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		12	30	12	30	---	---	---	---
HSD11B2	3291	broad.mit.edu	37	16	67470609	67470609	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:67470609C>G	ENST00000326152.5	+	5	1053	c.921C>G	c.(919-921)ttC>ttG	p.F307L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	307					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)	p.F307L(1)		breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		ATGGGCAGTTCCTGCACTCGC	0.617																																						uc002etd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)TTC>TTG		hydroxysteroid (11-beta) dehydrogenase 2	NADH(DB00157)						109.0	92.0	98.0					16																	67470609		2198	4300	6498	SO:0001583	missense	3291				glucocorticoid biosynthetic process	endoplasmic reticulum|microsome		g.chr16:67470609C>G	U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.921C>G	16.37:g.67470609C>G	ENSP00000316786:p.Phe307Leu						p.F307L	NM_000196	NP_000187	P80365	DHI2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	5	1037	+		Ovarian(137;0.0563)	307					A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	ENST00000326152.5	37	c.921C>G	CCDS10837.1	.	.	.	.	.	.	.	.	.	.	C	7.006	0.555747	0.13436	.	.	ENSG00000176387	ENST00000326152	D	0.87966	-2.32	5.03	2.69	0.31865	NAD(P)-binding domain (1);	0.107992	0.64402	D	0.000002	T	0.79173	0.4401	L	0.43554	1.36	0.58432	D	0.999995	B	0.25667	0.131	B	0.24269	0.052	T	0.70004	-0.4991	10	0.09843	T	0.71	.	11.2693	0.49129	0.0:0.8169:0.0:0.1831	.	307	P80365	DHI2_HUMAN	L	307	ENSP00000316786:F307L	ENSP00000316786:F307L	F	+	3	2	HSD11B2	66028110	0.990000	0.36364	0.993000	0.49108	0.075000	0.17131	0.460000	0.21924	1.120000	0.41904	0.563000	0.77884	TTC		PASS	0.617	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268826.3	NM_000196		30	130	30	130	---	---	---	---
RANBP10	57610	broad.mit.edu	37	16	67763247	67763247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:67763247C>A	ENST00000317506.3	-	10	1403	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	RANBP10_ENST00000602677.1_Nonsense_Mutation_p.E430*|RANBP10_ENST00000536251.1_Nonsense_Mutation_p.E201*|RANBP10_ENST00000448631.2_Nonsense_Mutation_p.E374*|RANBP10_ENST00000411657.2_Nonsense_Mutation_p.E313*	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	430	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.E430*(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGTTGGACTCGGAGTAATTG	0.562																																						uc002eud.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1288-1290)GAG>TAG		RAN binding protein 10							291.0	273.0	279.0					16																	67763247		2198	4300	6498	SO:0001587	stop_gained	57610							g.chr16:67763247C>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1288G>T	16.37:g.67763247C>A	ENSP00000316589:p.Glu430*					RANBP10_uc010ceo.2_Nonsense_Mutation_p.E201*|RANBP10_uc010vju.1_Nonsense_Mutation_p.E374*|RANBP10_uc010vjv.1_Nonsense_Mutation_p.E313*|RANBP10_uc010vjw.1_Nonsense_Mutation_p.E91*	p.E430*	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1404	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	430			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Nonsense_Mutation	SNP	ENST00000317506.3	37	c.1288G>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326456	0.97476	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.65	5.65	0.86999	.	0.104498	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-20.5063	17.5009	0.87731	0.0:1.0:0.0:0.0	.	.	.	.	X	430;374;201;313	.	ENSP00000316589:E430X	E	-	1	0	RANBP10	66320748	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.149000	0.77396	2.681000	0.91329	0.563000	0.77884	GAG		PASS	0.562	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		3	78	3	78	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67914814	67914814	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:67914814G>A	ENST00000358933.5	+	18	2691	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	818					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)		p.E818K(1)		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)		CTTGACCCAGGAGGCCTCGAC	0.642																																						uc002eur.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2452-2454)GAG>AAG		autoantigen RCD8							52.0	57.0	55.0					16																	67914814		2197	4300	6497	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914814G>A	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.2452G>A	16.37:g.67914814G>A	ENSP00000351811:p.Glu818Lys					EDC4_uc010cer.2_Missense_Mutation_p.E437K|EDC4_uc002eus.2_Missense_Mutation_p.E548K|EDC4_uc002eut.1_5'Flank	p.E818K	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2618	+		Ovarian(137;0.0563)	818					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.2452G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500593	0.64298	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.61	4.66	0.58398	.	0.092639	0.64402	D	0.000001	T	0.44030	0.1274	L	0.27053	0.805	0.43902	D	0.996533	B	0.27791	0.189	B	0.27608	0.081	T	0.28299	-1.0048	9	0.22109	T	0.4	-13.5052	14.0772	0.64897	0.0731:0.0:0.9269:0.0	.	818	Q6P2E9	EDC4_HUMAN	K	818	.	ENSP00000351811:E818K	E	+	1	0	EDC4	66472315	1.000000	0.71417	0.923000	0.36655	0.641000	0.38312	8.864000	0.92294	1.377000	0.46286	0.591000	0.81541	GAG		PASS	0.642	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		5	144	5	144	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67916221	67916221	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:67916221C>G	ENST00000358933.5	+	24	3506	c.3267C>G	c.(3265-3267)ctC>ctG	p.L1089L	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000339176.3_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1089					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)		p.L1089L(1)		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)		CCAAGCTGCTCAAGTCCAAGG	0.582																																						uc002eur.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(3265-3267)CTC>CTG		autoantigen RCD8							60.0	66.0	64.0					16																	67916221		2198	4300	6498	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.chr16:67916221C>G	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.3267C>G	16.37:g.67916221C>G						EDC4_uc010cer.2_Silent_p.L708L|EDC4_uc002eus.2_Silent_p.L819L|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.2_5'Flank	p.L1089L	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	24	3433	+		Ovarian(137;0.0563)	1089					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.3267C>G	CCDS10849.1																																																																																				PASS	0.582	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		13	28	13	28	---	---	---	---
DPEP2	64174	broad.mit.edu	37	16	68026025	68026025	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:68026025G>A	ENST00000572888.1	-	3	1112	c.462C>T	c.(460-462)gaC>gaT	p.D154D	DPEP2_ENST00000393847.1_Silent_p.D154D|DPEP2_ENST00000412757.2_Silent_p.D154D			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	154					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)	p.D154D(1)		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)		GGCGTATGAGGTCAATCTGCT	0.572																																						uc010cey.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(460-462)GAC>GAT		dipeptidase 2 precursor							125.0	116.0	119.0					16																	68026025		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:68026025G>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.462C>T	16.37:g.68026025G>A						DPEP2_uc002evd.3_Silent_p.D154D|DPEP2_uc002eve.2_Silent_p.D154D|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Missense_Mutation_p.T112I	p.D154D	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	3	626	-		Ovarian(137;0.192)	154					B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	c.462C>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895691	0.17686	.	.	ENSG00000167261	ENST00000268795	.	.	.	4.11	2.16	0.27623	.	.	.	.	.	T	0.47893	0.1470	.	.	.	0.80722	D	1	P	0.40107	0.703	B	0.43225	0.412	T	0.47471	-0.9115	7	0.87932	D	0	-18.5748	6.035	0.19702	0.3148:0.0:0.6852:0.0	.	112	B4DNP7	.	I	112	.	ENSP00000268795:T112I	T	-	2	0	DPEP2	66583526	0.994000	0.37717	1.000000	0.80357	0.943000	0.58893	0.247000	0.18179	0.704000	0.31869	0.561000	0.74099	ACC		PASS	0.572	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		12	131	12	131	---	---	---	---
NQO1	1728	broad.mit.edu	37	16	69748870	69748870	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:69748870G>A	ENST00000320623.5	-	4	925	c.414C>T	c.(412-414)ttC>ttT	p.F138F	NQO1_ENST00000379047.3_Silent_p.F138F|NQO1_ENST00000561500.1_Intron|NQO1_ENST00000564043.1_Silent_p.F117F|NQO1_ENST00000439109.2_Intron|NQO1_ENST00000379046.2_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	138					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)	p.F138F(1)		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)	CACCTACCCGGAAGGGTCCTT	0.498																																						uc002exp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)TTC>TTT		NAD(P)H menadione oxidoreductase 1,	Dicumarol(DB00266)|Menadione(DB00170)						205.0	185.0	192.0					16																	69748870		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:69748870G>A	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.414C>T	16.37:g.69748870G>A						NQO1_uc010cfm.2_Silent_p.F117F|NQO1_uc002exq.2_Silent_p.F138F|NQO1_uc002exr.2_Intron|NQO1_uc010vll.1_Intron	p.F138F	NM_000903	NP_000894	P15559	NQO1_HUMAN			4	605	-			138					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Silent	SNP	ENST00000320623.5	37	c.414C>T	CCDS10883.1																																																																																				PASS	0.498	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			39	258	39	258	---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70578410	70578410	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:70578410C>T	ENST00000302516.5	+	10	1514	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	435					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.L435L(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)				CCGATCATCTCTGAGAGTCCT	0.443																																						uc002ezf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1303-1305)CTG>TTG		splicing factor 3b, subunit 3							117.0	110.0	112.0					16																	70578410		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.chr16:70578410C>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.1303C>T	16.37:g.70578410C>T							p.L435L	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			10	1514	+		Ovarian(137;0.0694)	435					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1303C>T	CCDS10894.1																																																																																				PASS	0.443	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		20	134	20	134	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74990499	74990499	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:74990499G>C	ENST00000262144.6	-	3	244	c.114C>G	c.(112-114)ttC>ttG	p.F38L	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	38								p.F38L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CGATGTATAAGAATCTGCGGC	0.398																																						uc002fdh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(112-114)TTC>TTG		WD repeat domain 59							88.0	82.0	84.0					16																	74990499		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74990499G>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.114C>G	16.37:g.74990499G>C	ENSP00000262144:p.Phe38Leu					WDR59_uc002fdi.2_Missense_Mutation_p.F38L|WDR59_uc002fdj.2_Missense_Mutation_p.F38L	p.F38L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN			3	216	-			38					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.114C>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763477	0.31228	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.69685	-0.42	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	L	0.28274	0.84	0.80722	D	1	P;P	0.47106	0.89;0.824	B;B	0.42495	0.389;0.217	T	0.49173	-0.8967	10	0.13470	T	0.59	-26.1081	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	38;38	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	L	38;17	ENSP00000262144:F38L	ENSP00000262144:F38L	F	-	3	2	WDR59	73548000	1.000000	0.71417	0.995000	0.50966	0.427000	0.31564	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	TTC		PASS	0.398	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		15	79	15	79	---	---	---	---
TRAPPC2L	51693	broad.mit.edu	37	16	88923573	88923573	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr16:88923573C>T	ENST00000301021.3	+	1	80	c.15C>T	c.(13-15)atC>atT	p.I5I	GALNS_ENST00000568311.1_5'Flank|TRAPPC2L_ENST00000561840.1_5'Flank|TRAPPC2L_ENST00000567895.1_5'UTR|GALNS_ENST00000542788.1_5'Flank|TRAPPC2L_ENST00000564365.1_Intron|GALNS_ENST00000569433.1_5'Flank|GALNS_ENST00000268695.5_5'Flank|TRAPPC2L_ENST00000567312.1_Silent_p.I5I|GALNS_ENST00000565364.1_5'Flank|TRAPPC2L_ENST00000565504.1_Silent_p.I5I|TRAPPC2L_ENST00000568583.1_Silent_p.I5I			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	5					ER to Golgi vesicle-mediated transport (GO:0006888)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I5I(1)		lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CGGTGTGCATCGCGGTGATTG	0.682																																						uc002fmc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)ATC>ATT		trafficking protein particle complex 2-like							18.0	23.0	21.0					16																	88923573		2188	4290	6478	SO:0001819	synonymous_variant	51693				ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm		g.chr16:88923573C>T	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.15C>T	16.37:g.88923573C>T						GALNS_uc002fly.3_5'Flank|GALNS_uc010cid.2_5'Flank|GALNS_uc002flz.3_5'Flank|GALNS_uc002fma.2_5'Flank|TRAPPC2L_uc010cie.2_Intron|TRAPPC2L_uc002fmd.3_Silent_p.I5I|TRAPPC2L_uc002fme.3_Silent_p.I5I|TRAPPC2L_uc002fmf.2_5'Flank	p.I5I	NM_016209	NP_057293	Q9UL33	TPC2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	1	68	+			5					B2R4M9|Q6ZTA7|Q9NZZ4	Silent	SNP	ENST00000301021.3	37	c.15C>T	CCDS10971.1																																																																																				PASS	0.682	TRAPPC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269542.1	NM_016209		3	11	3	11	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	648684	648684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:648684G>A	ENST00000319004.5	-	2	2717	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	GEMIN4_ENST00000576778.1_Nonsense_Mutation_p.Q856*	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	867					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)		p.Q867*(2)		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)		TGCCACTCCTGAGGGCTGCAC	0.562																																						uc002frs.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(2599-2601)CAG>TAG		gemin 4							45.0	52.0	49.0					17																	648684		2084	4214	6298	SO:0001587	stop_gained	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:648684G>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.2599C>T	17.37:g.648684G>A	ENSP00000321706:p.Gln867*						p.Q867*	NM_015721	NP_056536	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	2	2718	-		Myeloproliferative disorder(207;0.204)	867					Q9NZS7|Q9UG32|Q9Y4Q2	Nonsense_Mutation	SNP	ENST00000319004.5	37	c.2599C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	49	15.399044	0.99832	.	.	ENSG00000179409	ENST00000319004	.	.	.	5.83	2.58	0.30949	.	0.648354	0.15728	N	0.247554	.	.	.	.	.	.	0.47778	D	0.999511	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.368	8.1321	0.31033	0.0:0.2146:0.3262:0.4592	.	.	.	.	X	867	.	ENSP00000321706:Q867X	Q	-	1	0	GEMIN4	595434	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	1.625000	0.37029	1.454000	0.47793	0.655000	0.94253	CAG		PASS	0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		4	38	4	38	---	---	---	---
SHPK	23729	broad.mit.edu	37	17	3539509	3539509	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:3539509G>A	ENST00000225519.3	-	1	107	c.5C>T	c.(4-6)gCt>gTt	p.A2V	CTNS_ENST00000441220.2_5'Flank|CTNS_ENST00000399306.2_5'Flank|CTNS_ENST00000046640.3_5'Flank|CTNS_ENST00000381870.3_5'Flank|CTNS_ENST00000414524.2_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	2					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)	p.A2V(1)		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)		CGGCCGCGCAGCCATTATCTC	0.706																																						uc002fvz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4-6)GCT>GTT		carbohydrate kinase-like							22.0	27.0	25.0					17																	3539509		2188	4270	6458	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3539509G>A	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.5C>T	17.37:g.3539509G>A	ENSP00000225519:p.Ala2Val					CTNS_uc002fwa.2_5'Flank|CTNS_uc002fwb.2_5'Flank|CTNS_uc010ckj.2_5'Flank|CTNS_uc010vrv.1_5'Flank|CTNS_uc010vrw.1_5'Flank	p.A2V	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	1	108	-			2					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.5C>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985632	0.53934	.	.	ENSG00000197417	ENST00000225519	T	0.27720	1.65	4.83	1.45	0.22620	.	0.571231	0.17891	N	0.158515	T	0.25382	0.0617	L	0.43923	1.385	0.09310	N	1	P	0.37500	0.597	B	0.37650	0.255	T	0.09465	-1.0673	10	0.51188	T	0.08	-0.0063	9.6853	0.40094	0.0:0.1978:0.6658:0.1364	.	2	Q9UHJ6	SHPK_HUMAN	V	2	ENSP00000225519:A2V	ENSP00000225519:A2V	A	-	2	0	SHPK	3486258	0.101000	0.21875	0.021000	0.16686	0.013000	0.08279	0.724000	0.25954	0.278000	0.22164	0.491000	0.48974	GCT		PASS	0.706	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			5	35	5	35	---	---	---	---
SLC16A11	162515	broad.mit.edu	37	17	6945349	6945349	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:6945349C>T	ENST00000308009.1	-	3	1489	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	SLC16A11_ENST00000447225.1_Missense_Mutation_p.M352I	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	384					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.M384I(1)		endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCCCGAGGCTCATCAGCATCA	0.637																																						uc002gei.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1150-1152)ATG>ATA		solute carrier family 16, member 11							29.0	33.0	32.0					17																	6945349		2202	4298	6500	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945349C>T	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.1152G>A	17.37:g.6945349C>T	ENSP00000310490:p.Met384Ile						p.M384I	NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN			3	1490	-			384			Helical; (Potential).			Missense_Mutation	SNP	ENST00000308009.1	37	c.1152G>A	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488352	0.44249	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.26957	1.7;1.7	4.71	3.74	0.42951	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.286229	0.39615	N	0.001320	T	0.18718	0.0449	L	0.40543	1.245	0.39911	D	0.974036	B	0.23442	0.085	B	0.14023	0.01	T	0.06770	-1.0808	10	0.19147	T	0.46	.	10.6504	0.45645	0.0:0.9068:0.0:0.0932	.	384	Q8NCK7	MOT11_HUMAN	I	384;352	ENSP00000310490:M384I;ENSP00000394449:M352I	ENSP00000310490:M384I	M	-	3	0	SLC16A11	6886073	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.476000	0.53143	1.206000	0.43276	0.557000	0.71058	ATG		PASS	0.637	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		17	24	17	24	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7095304	7095304	+	Silent	SNP	G	G	A	rs574653579		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:7095304G>A	ENST00000399506.2	-	18	2075	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	DLG4_ENST00000302955.6_Silent_p.L625L|DLG4_ENST00000399510.2_Silent_p.L671L			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	628	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)	p.L671L(1)|p.L625L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CCGAGACATCGAGGATGCAGT	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12462	0.0		0.0	False		,,,				2504	0.0					uc002get.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(2011-2013)CTC>CTT		post-synaptic density protein 95 isoform 1							30.0	36.0	34.0					17																	7095304		1915	4081	5996	SO:0001819	synonymous_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.chr17:7095304G>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.1884C>T	17.37:g.7095304G>A						DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Silent_p.L568L|DLG4_uc010cly.2_Silent_p.L625L|DLG4_uc010vto.1_Silent_p.L668L	p.L671L	NM_001365	NP_001356	P78352	DLG4_HUMAN			20	3214	-			628			Guanylate kinase-like.		B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.2013C>T																																																																																					PASS	0.692	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		4	27	4	27	---	---	---	---
TNFSF13	8741	broad.mit.edu	37	17	7462439	7462439	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:7462439C>G	ENST00000338784.4	+	1	526	c.83C>G	c.(82-84)tCa>tGa	p.S28*	SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000483039.1_Intron|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000380535.4_Nonsense_Mutation_p.S28*|TNFSF13_ENST00000396542.1_Nonsense_Mutation_p.S11*|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000349228.4_Nonsense_Mutation_p.S28*|TNFSF13_ENST00000396545.4_Nonsense_Mutation_p.S28*	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	28					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)	p.S28*(1)		large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				CCGGCACTCTCAGTTGCCCTC	0.632																																						uc002ghk.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(82-84)TCA>TGA		tumor necrosis factor ligand superfamily, member							23.0	28.0	26.0					17																	7462439		2193	4287	6480	SO:0001587	stop_gained	8741				mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction	extracellular space|nucleoplasm	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7462439C>G	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.83C>G	17.37:g.7462439C>G	ENSP00000343505:p.Ser28*					SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Nonsense_Mutation_p.S28*|TNFSF13_uc002ghl.2_Nonsense_Mutation_p.S28*|TNFSF13_uc010cmk.2_Nonsense_Mutation_p.S28*|TNFSF13_uc010vua.1_Nonsense_Mutation_p.S28*	p.S28*	NM_003808	NP_003799	O75888	TNF13_HUMAN			1	831	+		Prostate(122;0.157)	28					A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Nonsense_Mutation	SNP	ENST00000338784.4	37	c.83C>G	CCDS11111.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329062	0.81690	.	.	ENSG00000161955	ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	.	.	.	5.17	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.8729	11.2916	0.49254	0.1827:0.8173:0.0:0.0	.	.	.	.	X	11;11;11;28;28;28;28	.	ENSP00000343505:S28X	S	+	2	0	TNFSF13	7403163	0.999000	0.42202	0.997000	0.53966	0.954000	0.61252	2.231000	0.43009	1.274000	0.44362	0.655000	0.94253	TCA		PASS	0.632	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		8	74	8	74	---	---	---	---
TNFSF13	8741	broad.mit.edu	37	17	7462449	7462449	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:7462449C>T	ENST00000338784.4	+	1	536	c.93C>T	c.(91-93)ctC>ctT	p.L31L	SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000483039.1_Intron|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000380535.4_Silent_p.L31L|TNFSF13_ENST00000396542.1_Silent_p.L14L|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000349228.4_Silent_p.L31L|TNFSF13_ENST00000396545.4_Silent_p.L31L	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	31					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)	p.L31L(1)		large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				CAGTTGCCCTCTGGTTGAGTT	0.637																																						uc002ghk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(91-93)CTC>CTT		tumor necrosis factor ligand superfamily, member							20.0	24.0	23.0					17																	7462449		2182	4286	6468	SO:0001819	synonymous_variant	8741				mRNA metabolic process|positive regulation of cell proliferation|positive regulation of isotype switching to IgA isotypes|signal transduction	extracellular space|nucleoplasm	cytokine activity|tumor necrosis factor receptor binding	g.chr17:7462449C>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.93C>T	17.37:g.7462449C>T						SENP3_uc002ghm.2_5'Flank|TNFSF12-TNFSF13_uc002ghi.1_Intron|TNFSF13_uc002ghj.2_Silent_p.L31L|TNFSF13_uc002ghl.2_Silent_p.L31L|TNFSF13_uc010cmk.2_Silent_p.L31L|TNFSF13_uc010vua.1_Silent_p.L31L	p.L31L	NM_003808	NP_003799	O75888	TNF13_HUMAN			1	841	+		Prostate(122;0.157)	31					A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Silent	SNP	ENST00000338784.4	37	c.93C>T	CCDS11111.1																																																																																				PASS	0.637	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	NM_003808		6	70	6	70	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579378	7579378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:7579378G>T	ENST00000269305.4	-	4	498	c.309C>A	c.(307-309)taC>taA	p.Y103*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y103*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y103*|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	103	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.				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.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(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)	AGCTGCCCTGGTAGGTTTTCT	0.637		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		33	Deletion - Frameshift(11)|Substitution - Nonsense(10)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(7)|p.G59fs*23(3)|p.Y103*(2)|p.V73fs*9(1)|p.Y103Y(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)|large_intestine(4)|bone(4)|upper_aerodigestive_tract(3)|breast(3)|skin(3)|ovary(3)|stomach(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM073388	TP53	M		c.(307-309)TAC>TAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	54.0					17																	7579378		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579378G>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.309C>A	17.37:g.7579378G>T	ENSP00000269305:p.Tyr103*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.Y103*|TP53_uc002gih.2_Nonsense_Mutation_p.Y103*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Y103*|TP53_uc010cni.1_Nonsense_Mutation_p.Y103*|TP53_uc002gij.2_Nonsense_Mutation_p.Y103*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Y64*|TP53_uc010cnk.1_Nonsense_Mutation_p.Y118*	p.Y103*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	103			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.309C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713314	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	2.77	0.32553	.	0.191050	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7581	8.9354	0.35697	0.1877:0.0:0.8123:0.0	.	.	.	.	X	103	.	ENSP00000269305:Y103X	Y	-	3	2	TP53	7520103	1.000000	0.71417	0.665000	0.29768	0.394000	0.30568	4.673000	0.61604	1.366000	0.46076	0.655000	0.94253	TAC		PASS	0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	53	56	53	---	---	---	---
WDR16	146845	broad.mit.edu	37	17	9490041	9490041	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:9490041G>A	ENST00000576499.1	+	3	307	c.293G>A	c.(292-294)aGa>aAa	p.R98K	WDR16_ENST00000352665.5_Silent_p.K99K|WDR16_ENST00000299764.5_Silent_p.K109K|WDR16_ENST00000396219.3_Silent_p.K31K					WD repeat domain 16									p.K99K(1)		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						GGGATTATAAGAACAGAGAGC	0.473																																						uc002gly.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(295-297)AAG>AAA		WD40-repeat protein upregulated in HCC isoform							82.0	83.0	83.0					17																	9490041		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9490041G>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.293G>A	17.37:g.9490041G>A	ENSP00000476293:p.Arg98Lys					WDR16_uc002glz.2_Silent_p.K31K|WDR16_uc010coc.2_Silent_p.K109K	p.K99K	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			3	366	+			99			WD 1.			Silent	SNP	ENST00000576499.1	37	c.297G>A																																																																																					PASS	0.473	WDR16-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000439850.2	NM_145054		37	54	37	54	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10450818	10450818	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:10450818C>G	ENST00000245503.5	-	4	706	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	MYH2_ENST00000397183.2_Missense_Mutation_p.E108Q|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.E108Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	108	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)	p.E108Q(1)		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						GCATAACGTTCTTTGAGGTTG	0.488																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(322-324)GAA>CAA		myosin heavy chain IIa							331.0	281.0	298.0					17																	10450818		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.chr17:10450818C>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.322G>C	17.37:g.10450818C>G	ENSP00000245503:p.Glu108Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E108Q|MYH2_uc010coj.2_Missense_Mutation_p.E108Q	p.E108Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			4	450	-			108			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.322G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156899	0.57259	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.95	5.95	0.96441	Myosin head, motor domain (2);	0.000000	0.39687	U	0.001290	D	0.89846	0.6833	L	0.33668	1.02	0.80722	D	1	D;P	0.67145	0.996;0.845	D;P	0.81914	0.995;0.845	D	0.86106	0.1559	10	0.19590	T	0.45	.	19.3694	0.94479	0.0:1.0:0.0:0.0	.	108;108	Q567P6;Q9UKX2	.;MYH2_HUMAN	Q	108	ENSP00000433944:E108Q;ENSP00000245503:E108Q;ENSP00000380367:E108Q;ENSP00000399348:E108Q;ENSP00000416072:E108Q	ENSP00000245503:E108Q	E	-	1	0	MYH2	10391543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.030000	0.70903	2.821000	0.97095	0.650000	0.86243	GAA		PASS	0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		54	146	54	146	---	---	---	---
ELAC2	60528	broad.mit.edu	37	17	12905820	12905820	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:12905820G>C	ENST00000338034.4	-	13	1395	c.1156C>G	c.(1156-1158)Caa>Gaa	p.Q386E	ELAC2_ENST00000395962.2_Missense_Mutation_p.Q367E|ELAC2_ENST00000426905.3_Missense_Mutation_p.Q346E|ELAC2_ENST00000609345.1_5'Flank	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	386					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.Q386E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTGGGTTTGAATCTTGTGG	0.562											OREG0024189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gnz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)CAA>GAA		elaC homolog 2 isoform 1							134.0	128.0	130.0					17																	12905820		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905820G>C	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.1156C>G	17.37:g.12905820G>C	ENSP00000337445:p.Gln386Glu		OREG0024189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.F15L|ELAC2_uc002gnw.3_Missense_Mutation_p.Q44E|ELAC2_uc002gnx.3_Missense_Mutation_p.Q146E|ELAC2_uc010vvo.1_Missense_Mutation_p.Q184E|ELAC2_uc010vvp.1_Missense_Mutation_p.Q367E|ELAC2_uc010vvq.1_Missense_Mutation_p.Q386E|ELAC2_uc010vvr.1_Missense_Mutation_p.Q346E	p.Q386E	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			13	1251	-			386					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1156C>G	CCDS11164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.60|10.60	1.396103|1.396103	0.25205|0.25205	.|.	.|.	ENSG00000006744|ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438|ENST00000446899	T;T;T|.	0.68624|.	0.14;-0.33;-0.34|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82815|.	0.5119|.	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;P;D;D;D;D;D|.	0.89917|.	0.999;0.877;0.999;0.997;0.998;1.0;0.997|.	D;P;D;D;D;D;D|.	0.83275|.	0.993;0.453;0.982;0.946;0.993;0.996;0.937|.	D|.	0.84835|.	0.0804|.	10|.	0.49607|.	T|.	0.09|.	-23.2552|-23.2552	16.9687|16.9687	0.86294|0.86294	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	346;369;367;184;386;146;371|.	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15|.	.;.;.;.;RNZ2_HUMAN;.;.|.	E|X	346;386;367;64|165	ENSP00000405223:Q346E;ENSP00000337445:Q386E;ENSP00000379291:Q367E|.	ENSP00000337445:Q386E|.	Q|S	-|-	1|2	0|0	ELAC2|ELAC2	12846545|12846545	1.000000|1.000000	0.71417|0.71417	0.185000|0.185000	0.23176|0.23176	0.252000|0.252000	0.25951|0.25951	8.809000|8.809000	0.91944|0.91944	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	CAA|TCA		PASS	0.562	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			3	17	3	17	---	---	---	---
COX10	1352	broad.mit.edu	37	17	13980228	13980228	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:13980228G>C	ENST00000261643.3	+	3	431	c.354G>C	c.(352-354)ttG>ttC	p.L118F	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.L118F|COX10_ENST00000537334.1_Intron	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	118					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.L118F(2)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		AAAAGGAATTGATAGAACTAG	0.413																																						uc002gof.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(352-354)TTG>TTC		heme A:farnesyltransferase precursor							85.0	83.0	84.0					17																	13980228		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980228G>C	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.354G>C	17.37:g.13980228G>C	ENSP00000261643:p.Leu118Phe					COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR	p.L118F	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	558	+		all_lung(20;0.06)|Lung SC(565;0.168)	118					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.354G>C	CCDS11166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.70|11.70	1.716464|1.716464	0.30413|0.30413	.|.	.|.	ENSG00000006695|ENSG00000006695	ENST00000429152|ENST00000261643	.|T	.|0.37058	.|1.22	5.35|5.35	-1.55|-1.55	0.08558|0.08558	.|.	.|0.782162	.|0.11871	.|N	.|0.521479	T|T	0.27832|0.27832	0.0685|0.0685	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	.|P	.|0.41265	.|0.744	.|B	.|0.37508	.|0.252	T|T	0.20571|0.20571	-1.0271|-1.0271	5|10	.|0.56958	.|D	.|0.05	-9.8563|-9.8563	0.9974|0.9974	0.01470|0.01470	0.2626:0.1144:0.3877:0.2353|0.2626:0.1144:0.3877:0.2353	.|.	.|118	.|Q12887	.|COX10_HUMAN	H|F	79|118	.|ENSP00000261643:L118F	.|ENSP00000261643:L118F	D|L	+|+	1|3	0|2	COX10|COX10	13920953|13920953	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.107000|0.107000	0.19398|0.19398	0.542000|0.542000	0.23222|0.23222	-0.390000|-0.390000	0.07774|0.07774	-1.292000|-1.292000	0.01352|0.01352	GAT|TTG		PASS	0.413	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		34	43	34	43	---	---	---	---
FLCN	201163	broad.mit.edu	37	17	17122399	17122399	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:17122399G>A	ENST00000285071.4	-	9	1450	c.996C>T	c.(994-996)ctC>ctT	p.L332L	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	332					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)	p.L332L(1)		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						CACAGCCTGAGAGAGAGGAGG	0.642									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3																			1	Substitution - coding silent(1)		lung(1)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(994-996)CTC>CTT		folliculin isoform 1							63.0	77.0	73.0					17																	17122399		2203	4300	6503	SO:0001819	synonymous_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	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.chr17:17122399G>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.996C>T	17.37:g.17122399G>A						PLD6_uc010cpn.2_Intron	p.L332L	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			9	1500	-			332					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.996C>T	CCDS32579.1																																																																																				PASS	0.642	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		14	121	14	121	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18045066	18045066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:18045066C>A	ENST00000205890.5	+	23	5969	c.5631C>A	c.(5629-5631)taC>taA	p.Y1877*	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1877	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)	p.Y1877*(1)		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)					CAAACATGTACCGTGTTGGGG	0.557											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vxh.1																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5629-5631)TAC>TAA		myosin XV							105.0	111.0	109.0					17																	18045066		2110	4227	6337	SO:0001587	stop_gained	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18045066C>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.5631C>A	17.37:g.18045066C>A	ENSP00000205890:p.Tyr1877*		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722		p.Y1877*	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			22	5969	+	all_neural(463;0.228)		1877			Myosin head-like.		B4DFC7	Nonsense_Mutation	SNP	ENST00000205890.5	37	c.5631C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	47	13.824026	0.99765	.	.	ENSG00000091536	ENST00000205890	.	.	.	5.77	2.73	0.32206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8545	0.46792	0.0:0.7938:0.0:0.2062	.	.	.	.	X	1877	.	ENSP00000205890:Y1877X	Y	+	3	2	MYO15A	17985791	0.997000	0.39634	0.994000	0.49952	0.944000	0.59088	0.533000	0.23082	0.380000	0.24823	-0.291000	0.09656	TAC		PASS	0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		71	94	71	94	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18221365	18221365	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:18221365C>T	ENST00000406438.3	+	1	2742	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	754						nucleus (GO:0005634)		p.V754V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTATCTTTGTCCCCAGCTATG	0.532																																						uc002gsy.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2260-2262)GTC>GTT		Smith-Magenis syndrome chromosome region,							129.0	108.0	115.0					17																	18221365		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18221365C>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.2262C>T	17.37:g.18221365C>T							p.V754V	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	2772	+			754					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.2262C>T	CCDS11195.2																																																																																				PASS	0.532	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		26	81	26	81	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20108650	20108650	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:20108650C>G	ENST00000261503.5	+	4	1339	c.1288C>G	c.(1288-1290)Cga>Gga	p.R430G	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395522.2_Missense_Mutation_p.R349G|SPECC1_ENST00000395527.4_Missense_Mutation_p.R430G|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.R430G|SPECC1_ENST00000395530.2_Missense_Mutation_p.R349G|SPECC1_ENST00000395525.3_Missense_Mutation_p.R349G|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	430					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.R430G(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCATCAGCATCGAGAGAGGGC	0.413																																						uc002gwq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)CGA>GGA		spectrin domain with coiled-coils 1 NSP5b3b							63.0	66.0	65.0					17																	20108650		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108650C>G	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.1288C>G	17.37:g.20108650C>G	ENSP00000261503:p.Arg430Gly					CYTSB_uc010cqx.2_Missense_Mutation_p.R430G|CYTSB_uc002gwr.2_Missense_Mutation_p.R430G|CYTSB_uc002gws.2_Missense_Mutation_p.R430G|CYTSB_uc002gwv.2_Missense_Mutation_p.R349G|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R206G|CYTSB_uc002gwt.2_Missense_Mutation_p.R349G|CYTSB_uc002gwu.2_Missense_Mutation_p.R349G	p.R430G	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	1433	+			430					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.1288C>G	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989171	0.35131	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T;T	0.64260	-0.09;3.32;3.32;3.32;3.32	5.11	4.03	0.46877	.	0.046847	0.85682	D	0.000000	T	0.72145	0.3424	L	0.59436	1.845	0.80722	D	1	B;D;D;D;B	0.89917	0.198;1.0;1.0;1.0;0.37	B;D;D;D;B	0.91635	0.11;0.999;0.999;0.999;0.11	T	0.70795	-0.4775	10	0.44086	T	0.13	-15.7062	9.9738	0.41770	0.3296:0.6703:0.0:0.0	.	430;349;349;430;430	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	G	430;430;430;349;349;349	ENSP00000378901:R430G;ENSP00000261503:R430G;ENSP00000378900:R430G;ENSP00000378893:R349G;ENSP00000378896:R349G	ENSP00000261503:R430G	R	+	1	2	SPECC1	20049242	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	3.427000	0.52785	2.549000	0.85964	0.655000	0.94253	CGA		PASS	0.413	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		19	90	19	90	---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38555128	38555128	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:38555128G>C	ENST00000423485.1	-	26	3508	c.3350C>G	c.(3349-3351)tCc>tGc	p.S1117C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					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)	p.S1117C(1)		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)	ATCTGTTACGGAGTCACTCTT	0.353																																						uc002huq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3349-3351)TCC>TGC		DNA topoisomerase II, alpha isozyme	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)						167.0	150.0	155.0					17																	38555128		1851	4097	5948	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.chr17:38555128G>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.3350C>G	17.37:g.38555128G>C	ENSP00000411532:p.Ser1117Cys						p.S1117C	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		26	3476	-		Breast(137;0.00328)	1117					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.3350C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458973	0.84317	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.25579	1.79	6.05	6.05	0.98169	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A, alpha-helical (1);DNA topoisomerase, type IIA, central (1);	0.572208	0.20462	N	0.091862	T	0.46502	0.1396	L	0.56340	1.77	0.80722	D	1	D	0.54207	0.965	P	0.58391	0.838	T	0.15983	-1.0418	10	0.59425	D	0.04	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1117	P11388	TOP2A_HUMAN	C	1117;1197;1140;1153	ENSP00000411532:S1117C	ENSP00000269577:S1197C	S	-	2	0	TOP2A	35808654	0.852000	0.29690	0.230000	0.23976	0.558000	0.35554	3.468000	0.53086	2.878000	0.98634	0.650000	0.86243	TCC		PASS	0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			13	96	13	96	---	---	---	---
KRT37	8688	broad.mit.edu	37	17	39578372	39578372	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:39578372C>T	ENST00000225550.3	-	5	968	c.969G>A	c.(967-969)ctG>ctA	p.L323L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	323	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L323L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGTGCATCTCAGCTCCAGGA	0.602																																						uc002hwp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(967-969)CTG>CTA		keratin 37							155.0	116.0	129.0					17																	39578372		2203	4296	6499	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39578372C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.969G>A	17.37:g.39578372C>T						uc002hwo.1_Intron	p.L323L	NM_003770	NP_003761	O76014	KRT37_HUMAN			5	1016	-		Breast(137;0.000496)	323			Coil 2.|Rod.			Silent	SNP	ENST00000225550.3	37	c.969G>A	CCDS32653.1																																																																																				PASS	0.602	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		25	130	25	130	---	---	---	---
KRT37	8688	broad.mit.edu	37	17	39578435	39578435	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:39578435G>A	ENST00000225550.3	-	5	905	c.906C>T	c.(904-906)atC>atT	p.I302I	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	302	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.I302I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCTGCAGGCTGATGCCTTCAG	0.612																																						uc002hwp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(904-906)ATC>ATT		keratin 37							145.0	112.0	124.0					17																	39578435		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39578435G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.906C>T	17.37:g.39578435G>A						uc002hwo.1_Intron	p.I302I	NM_003770	NP_003761	O76014	KRT37_HUMAN			5	953	-		Breast(137;0.000496)	302			Coil 2.|Rod.			Silent	SNP	ENST00000225550.3	37	c.906C>T	CCDS32653.1																																																																																				PASS	0.612	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		28	127	28	127	---	---	---	---
KRT37	8688	broad.mit.edu	37	17	39578672	39578672	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:39578672C>T	ENST00000225550.3	-	4	746	c.747G>A	c.(745-747)ctG>ctA	p.L249L	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	249	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L249L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTGACTCCTCAGAATCTTTA	0.567																																						uc002hwp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(745-747)CTG>CTA		keratin 37							131.0	131.0	131.0					17																	39578672		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39578672C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.747G>A	17.37:g.39578672C>T						uc002hwo.1_Intron	p.L249L	NM_003770	NP_003761	O76014	KRT37_HUMAN			4	794	-		Breast(137;0.000496)	249			Rod.|Coil 1B.			Silent	SNP	ENST00000225550.3	37	c.747G>A	CCDS32653.1																																																																																				PASS	0.567	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		28	207	28	207	---	---	---	---
LEPREL4	10609	broad.mit.edu	37	17	39968008	39968008	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:39968008C>G	ENST00000355468.3	-	2	626	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E54Q|FKBP10_ENST00000321562.4_5'Flank			Q92791	SC65_HUMAN	leprecan-like 4	54					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.E54Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CGCGCGCTCTCGCGCCAGCTC	0.741																																						uc002hxt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GAG>CAG		synaptonemal complex protein SC65							4.0	4.0	4.0					17																	39968008		1893	3757	5650	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39968008C>G	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.160G>C	17.37:g.39968008C>G	ENSP00000347649:p.Glu54Gln					FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.E145Q	p.E54Q	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	1	444	-		Breast(137;0.000162)	54					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.160G>C	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.070665	0.76301	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.37411	1.2;1.2	4.39	2.36	0.29203	Tetratricopeptide-like helical (1);	0.371166	0.26525	U	0.023900	T	0.26376	0.0644	L	0.47716	1.5	0.39990	D	0.975033	P;P	0.46220	0.874;0.522	B;B	0.39027	0.288;0.198	T	0.03795	-1.1003	10	0.28530	T	0.3	-6.3183	7.9503	0.30010	0.0:0.6059:0.3048:0.0893	.	54;54	B4DVZ5;Q92791	.;SC65_HUMAN	Q	54	ENSP00000347649:E54Q;ENSP00000377505:E54Q	ENSP00000347649:E54Q	E	-	1	0	LEPREL4	37221534	0.990000	0.36364	0.998000	0.56505	0.825000	0.46686	2.729000	0.47327	0.299000	0.22661	0.290000	0.19541	GAG		PASS	0.741	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			2	6	2	6	---	---	---	---
LRRC37A	9884	broad.mit.edu	37	17	44408844	44408844	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:44408844G>A	ENST00000320254.5	+	9	4204	c.4201G>A	c.(4201-4203)Gat>Aat	p.D1401N	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.D439N|LRRC37A_ENST00000393465.3_Missense_Mutation_p.D1401N|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1401						integral component of membrane (GO:0016021)		p.D1401N(1)		endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TGAAGAAAATGATTTTATGGA	0.373																																						uc002ikg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4201-4203)GAT>AAT		leucine rich repeat containing 37A precursor							21.0	19.0	20.0					17																	44408844		1846	3460	5306	SO:0001583	missense	9884					integral to membrane		g.chr17:44408844G>A	BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.4201G>A	17.37:g.44408844G>A	ENSP00000326324:p.Asp1401Asn					ARL17A_uc002iki.3_Intron|ARL17A_uc002ikh.3_Intron|ARL17B_uc002ikf.2_Intron|LRRC37A_uc002ikj.2_Missense_Mutation_p.D362N|LRRC37A_uc010daw.1_Missense_Mutation_p.D331N	p.D1401N	NM_014834	NP_055649	A6NMS7	L37A1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	4204	+		Melanoma(429;0.211)	1401			Extracellular (Potential).		Q68DY2|Q8IWC7	Missense_Mutation	SNP	ENST00000320254.5	37	c.4201G>A	CCDS11504.2	.	.	.	.	.	.	.	.	.	.	g	6.053	0.378044	0.11466	.	.	ENSG00000176681	ENST00000496930;ENST00000393466;ENST00000393465;ENST00000320254	T;T;T	0.58210	1.55;0.35;0.35	2.15	-1.54	0.08584	.	.	.	.	.	T	0.23806	0.0576	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.27882	0.01;0.0;0.192	B;B;B	0.22880	0.001;0.0;0.042	T	0.12578	-1.0542	9	0.45353	T	0.12	.	5.8395	0.18625	0.5032:0.0:0.4968:0.0	.	439;521;1401	E9PP10;Q5YKG5;A6NMS7	.;.;L37A1_HUMAN	N	439;1401;1401;1401	ENSP00000437021:D439N;ENSP00000377108:D1401N;ENSP00000326324:D1401N	ENSP00000326324:D1401N	D	+	1	0	LRRC37A	41764605	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.441000	0.06879	-0.458000	0.07023	-0.986000	0.02555	GAT		PASS	0.373	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313519.3	NM_014834		9	52	9	52	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48687294	48687294	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:48687294C>G	ENST00000359106.5	+	26	4757	c.4757C>G	c.(4756-4758)tCa>tGa	p.S1586*	CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.S1586*|CACNA1G_ENST00000360761.4_Nonsense_Mutation_p.S1563*|CACNA1G_ENST00000502264.1_Nonsense_Mutation_p.S1563*|CACNA1G_ENST00000514717.1_Nonsense_Mutation_p.S1529*|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000503485.1_Nonsense_Mutation_p.S1552*|CACNA1G_ENST00000515165.1_Nonsense_Mutation_p.S1586*|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000514079.1_Nonsense_Mutation_p.S1593*|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000505165.1_Nonsense_Mutation_p.S1586*|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507609.1_Nonsense_Mutation_p.S1586*|CACNA1G_ENST00000515411.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1586					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)	p.S1586*(1)		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)	AGCGCTGCGTCAGGTACTGCG	0.567																																						uc002irk.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(4756-4758)TCA>TGA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						63.0	74.0	70.0					17																	48687294		2170	4258	6428	SO:0001587	stop_gained	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48687294C>G	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.4757C>G	17.37:g.48687294C>G	ENSP00000352011:p.Ser1586*					CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Nonsense_Mutation_p.S1586*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.S1586*|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Nonsense_Mutation_p.S1563*|CACNA1G_uc002iru.1_Intron|CACNA1G_uc002irx.1_Nonsense_Mutation_p.S1499*|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Nonsense_Mutation_p.S1499*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.S1465*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.S1506*|CACNA1G_uc002isc.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Nonsense_Mutation_p.S1442*	p.S1586*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		26	5129	+	Breast(11;6.7e-17)		1586			Cytoplasmic (Potential).		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	Nonsense_Mutation	SNP	ENST00000359106.5	37	c.4757C>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	44	11.127029	0.99519	.	.	ENSG00000006283	ENST00000360761;ENST00000502264;ENST00000514717;ENST00000503485;ENST00000507510;ENST00000507609;ENST00000515165;ENST00000514079;ENST00000359106;ENST00000505165	.	.	.	5.64	5.64	0.86602	.	0.813620	0.10673	N	0.647294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.7631	0.62979	0.2705:0.7295:0.0:0.0	.	.	.	.	X	1563;1563;1529;1552;1586;1586;1586;1593;1586;1586	.	ENSP00000352011:S1586X	S	+	2	0	CACNA1G	46042293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.266000	0.43320	2.660000	0.90430	0.484000	0.47621	TCA		PASS	0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		18	27	18	27	---	---	---	---
COX11	1353	broad.mit.edu	37	17	53040696	53040696	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:53040696C>G	ENST00000299335.3	-	3	757	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	COX11_ENST00000571584.1_Missense_Mutation_p.E207Q|COX11_ENST00000573912.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	207					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)	p.E207Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TGTCCAGCTTCAAATGGAACA	0.353																																						uc010wng.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)GAA>CAA		COX11 homolog, cytochrome c oxidase assembly							65.0	66.0	65.0					17																	53040696		2203	4300	6503	SO:0001583	missense	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53040696C>G	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.619G>C	17.37:g.53040696C>G	ENSP00000299335:p.Glu207Gln					COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.E207Q	p.E207Q	NM_004375	NP_004366	Q9Y6N1	COX11_HUMAN			3	676	-			207			Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).		D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	c.619G>C	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657542	0.67586	.	.	ENSG00000166260	ENST00000299335	T	0.40476	1.03	5.3	5.3	0.74995	Cytochrome c oxidase assembly protein CtaG/Cox11, domain (2);	0.054147	0.85682	D	0.000000	T	0.52224	0.1721	L	0.39514	1.22	0.80722	D	1	P;D	0.60575	0.756;0.988	P;D	0.65323	0.656;0.934	T	0.28870	-1.0030	10	0.12766	T	0.61	-19.2801	18.1129	0.89541	0.0:1.0:0.0:0.0	.	207;207	B4DI26;Q9Y6N1	.;COX11_HUMAN	Q	207	ENSP00000299335:E207Q	ENSP00000299335:E207Q	E	-	1	0	COX11	50395695	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.573000	0.82421	2.754000	0.94517	0.650000	0.86243	GAA		PASS	0.353	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		12	88	12	88	---	---	---	---
OR4D1	26689	broad.mit.edu	37	17	56232861	56232861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:56232861C>G	ENST00000268912.5	+	1	368	c.347C>G	c.(346-348)tCa>tGa	p.S116*		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	116					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.S116*(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTTTTTCTCTCAGTCATGGCC	0.542																																						uc010wno.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(346-348)TCA>TGA		olfactory receptor, family 4, subfamily D,							92.0	95.0	94.0					17																	56232861		2189	4288	6477	SO:0001587	stop_gained	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232861C>G	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.347C>G	17.37:g.56232861C>G	ENSP00000365451:p.Ser116*					MSX2P1_uc002ivn.2_5'Flank	p.S116*	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	347	+			116			Helical; Name=3; (Potential).		B2RN14|Q8NGB1|Q96R76	Nonsense_Mutation	SNP	ENST00000268912.5	37	c.347C>G	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.336575	0.81801	.	.	ENSG00000141194	ENST00000268912	.	.	.	5.63	4.65	0.58169	.	0.000000	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-10.1924	14.2996	0.66336	0.0:0.8501:0.1499:0.0	.	.	.	.	X	116	.	ENSP00000365451:S116X	S	+	2	0	OR4D1	53587860	0.001000	0.12720	0.827000	0.32855	0.730000	0.41778	1.627000	0.37050	1.361000	0.45981	0.543000	0.68304	TCA		PASS	0.542	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			41	72	41	72	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56438267	56438267	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:56438267C>T	ENST00000584437.1	-	6	2681	c.726G>A	c.(724-726)caG>caA	p.Q242Q	RNF43_ENST00000407977.2_Silent_p.Q242Q|RNF43_ENST00000577625.1_Silent_p.Q115Q|RNF43_ENST00000583753.1_Silent_p.Q201Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Silent_p.Q201Q|RNF43_ENST00000581868.1_Silent_p.Q115Q|RNF43_ENST00000577716.1_Silent_p.Q242Q			Q68DV7	RNF43_HUMAN	ring finger protein 43	242					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.Q242Q(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)					TGGTGGCCAGCTGGCTGATGG	0.657																																						uc002iwf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(724-726)CAG>CAA		ring finger protein 43 precursor							34.0	35.0	35.0					17																	56438267		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56438267C>T		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.726G>A	17.37:g.56438267C>T						RNF43_uc010wnv.1_Silent_p.Q201Q|RNF43_uc002iwh.3_Silent_p.Q242Q|RNF43_uc002iwg.3_Silent_p.Q242Q|RNF43_uc010dcw.2_Silent_p.Q115Q	p.Q242Q	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			6	2682	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		242			Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.726G>A	CCDS11607.1																																																																																				PASS	0.657	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		26	30	26	30	---	---	---	---
RPS6KB1	6198	broad.mit.edu	37	17	58024015	58024015	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:58024015G>C	ENST00000225577.4	+	15	1465	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E459Q|RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E429Q	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	482	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|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)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.E482Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AAGTGGCATAGAGCAGATGGA	0.493																																						uc002ixy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1444-1446)GAG>CAG		ribosomal protein S6 kinase, 70kDa, polypeptide							76.0	64.0	68.0					17																	58024015		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58024015G>C	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1444G>C	17.37:g.58024015G>C	ENSP00000225577:p.Glu482Gln					RPS6KB1_uc010ddj.1_Intron|RPS6KB1_uc010wom.1_Missense_Mutation_p.E429Q|RPS6KB1_uc010won.1_Missense_Mutation_p.E459Q|RPS6KB1_uc010woo.1_Missense_Mutation_p.E417Q|RPS6KB1_uc002ixz.2_RNA	p.E482Q	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		15	1547	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482			Autoinhibitory domain.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.1444G>C	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815517	0.50527	.	.	ENSG00000108443	ENST00000443572;ENST00000225577;ENST00000393021	T;T;T	0.71698	-0.59;-0.41;-0.38	5.23	5.23	0.72850	.	0.045961	0.85682	D	0.000000	T	0.58552	0.2130	N	0.22421	0.69	0.58432	D	0.999999	P;P	0.42409	0.779;0.475	B;B	0.38616	0.277;0.1	T	0.57602	-0.7783	10	0.22109	T	0.4	.	18.7992	0.92008	0.0:0.0:1.0:0.0	.	459;482	F6UYM1;P23443	.;KS6B1_HUMAN	Q	459;482;429	ENSP00000441993:E459Q;ENSP00000225577:E482Q;ENSP00000376744:E429Q	ENSP00000225577:E482Q	E	+	1	0	RPS6KB1	55378797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.410000	0.97335	2.430000	0.82344	0.655000	0.94253	GAG		PASS	0.493	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		10	76	10	76	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60837358	60837358	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:60837358C>T	ENST00000311269.5	-	4	494	c.220G>A	c.(220-222)Gag>Aag	p.E74K	MARCH10_ENST00000544856.2_Missense_Mutation_p.E74K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E74K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E74K	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	74					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E74K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCATCCTCCTCACTAGAACTC	0.418																																						uc010ddr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)GAG>AAG		ring finger protein 190							185.0	158.0	167.0					17																	60837358		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60837358C>T	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.220G>A	17.37:g.60837358C>T	ENSP00000311496:p.Glu74Lys					MARCH10_uc002jag.3_Missense_Mutation_p.E74K|MARCH10_uc010dds.2_Missense_Mutation_p.E74K|MARCH10_uc002jah.2_Missense_Mutation_p.E74K	p.E74K	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			4	458	-			74					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.220G>A	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435313	0.43224	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.22134	1.97;1.97;1.97	5.93	5.93	0.95920	.	0.322264	0.22337	N	0.061400	T	0.28830	0.0715	M	0.66939	2.045	0.24642	N	0.993563	P;P;P	0.45474	0.78;0.859;0.78	B;B;B	0.40677	0.182;0.337;0.182	T	0.29027	-1.0025	10	0.72032	D	0.01	-8.7943	17.2535	0.87049	0.0:1.0:0.0:0.0	.	74;74;74	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	K	74	ENSP00000416177:E74K;ENSP00000311496:E74K;ENSP00000443746:E74K	ENSP00000311496:E74K	E	-	1	0	MARCH10	58191090	0.987000	0.35691	0.178000	0.23040	0.018000	0.09664	4.054000	0.57434	2.805000	0.96524	0.655000	0.94253	GAG		PASS	0.418	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		12	128	12	128	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61557861	61557861	+	Silent	SNP	C	C	T	rs148882466	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:61557861C>T	ENST00000290866.4	+	5	843	c.819C>T	c.(817-819)ctC>ctT	p.L273L	ACE_ENST00000428043.1_Silent_p.L273L|ACE_ENST00000538928.1_Silent_p.L273L|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	273	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)	p.L273L(1)		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)	ACATCAACCTCAGGGGACCCA	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20170	0.0		0.0	False		,,,				2504	0.0					uc002jau.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(817-819)CTC>CTT		angiotensin I converting enzyme 1 isoform 1	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)						162.0	143.0	149.0					17																	61557861		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:61557861C>T	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.819C>T	17.37:g.61557861C>T						ACE_uc010wpi.1_Silent_p.L273L|ACE_uc010ddu.1_Silent_p.L90L	p.L273L	NM_000789	NP_000780	P12821	ACE_HUMAN			5	841	+			273			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.819C>T	CCDS11637.1																																																																																				PASS	0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			14	146	14	146	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61889493	61889493	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:61889493C>G	ENST00000578681.1	+	15	2201	c.1600C>G	c.(1600-1602)Cag>Gag	p.Q534E	DDX42_ENST00000359353.5_Missense_Mutation_p.Q415E|DDX42_ENST00000583590.1_Missense_Mutation_p.Q534E|DDX42_ENST00000389924.2_Missense_Mutation_p.Q534E|DDX42_ENST00000457800.2_Missense_Mutation_p.Q534E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	534	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	p.Q534E(1)		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						GGATATGGATCAGAGTGAGAG	0.428																																						uc002jbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)	5						c.(1600-1602)CAG>GAG		DEAD box polypeptide 42 protein							92.0	90.0	90.0					17																	61889493		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.chr17:61889493C>G	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.1600C>G	17.37:g.61889493C>G	ENSP00000464050:p.Gln534Glu					DDX42_uc002jbv.2_Missense_Mutation_p.Q534E|DDX42_uc002jbw.1_Missense_Mutation_p.Q270E|DDX42_uc002jbx.2_Missense_Mutation_p.Q270E|DDX42_uc002jby.2_Missense_Mutation_p.Q80E	p.Q534E	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			15	1857	+			534			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1600C>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563131	0.86335	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.77877	-1.13;-1.13	5.74	4.75	0.60458	Helicase, C-terminal (3);	0.048785	0.85682	D	0.000000	D	0.90222	0.6943	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.92556	0.6054	10	0.87932	D	0	-13.1815	15.343	0.74311	0.1407:0.8593:0.0:0.0	.	80;534	B3KV84;Q86XP3	.;DDX42_HUMAN	E	534;534;270	ENSP00000374574:Q534E;ENSP00000390121:Q534E	ENSP00000352308:Q270E	Q	+	1	0	DDX42	59243225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.538000	0.49270	0.650000	0.86243	CAG		PASS	0.428	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		24	135	24	135	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62487068	62487068	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:62487068T>G	ENST00000539111.2	-	4	881	c.814A>C	c.(814-816)Aac>Cac	p.N272H		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	272					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.N272H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CTGCTGAAGTTAGATGGACTC	0.343																																					Colon(3;18 21 435 17652 48887)	uc002jei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(814-816)AAC>CAC		DNA polymerase subunit gamma-2, mitochondrial							91.0	87.0	88.0					17																	62487068		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62487068T>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.814A>C	17.37:g.62487068T>G	ENSP00000442563:p.Asn272His					POLG2_uc010deg.1_Missense_Mutation_p.N272H	p.N272H	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		4	897	-	Breast(5;2.15e-14)		272					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.814A>C	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027160	0.54683	.	.	ENSG00000256525	ENST00000539111	T	0.78364	-1.17	5.43	3.17	0.36434	.	0.296921	0.37393	N	0.002106	D	0.83649	0.5300	M	0.74881	2.28	0.31671	N	0.64442	D;D	0.89917	1.0;1.0	D;D	0.66716	0.946;0.946	T	0.82236	-0.0557	10	0.62326	D	0.03	-7.8484	5.5618	0.17148	0.0:0.1466:0.1459:0.7075	.	272;272	E5KS15;Q9UHN1	.;DPOG2_HUMAN	H	272	ENSP00000442563:N272H	ENSP00000442563:N272H	N	-	1	0	POLG2	59917530	0.983000	0.35010	0.997000	0.53966	0.918000	0.54935	2.005000	0.40864	0.332000	0.23536	-0.250000	0.11733	AAC		PASS	0.343	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		52	71	52	71	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74473802	74473802	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:74473802C>T	ENST00000313080.4	-	7	1098	c.825G>A	c.(823-825)ccG>ccA	p.P275P	RHBDF2_ENST00000591885.1_Silent_p.P246P|RHBDF2_ENST00000592378.1_5'Flank|RHBDF2_ENST00000389760.4_Silent_p.P246P	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	275					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.P275P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CCAGGAAGCTCGGGAAGGCAA	0.627																																						uc002jrq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)CCG>CCA		rhomboid, veinlet-like 6 isoform 1							125.0	95.0	105.0					17																	74473802		2203	4300	6503	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473802C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.825G>A	17.37:g.74473802C>T						RHBDF2_uc002jrp.1_Silent_p.P246P|RHBDF2_uc002jrr.1_Silent_p.P127P|RHBDF2_uc010wtf.1_Silent_p.P246P|RHBDF2_uc002jrs.1_Silent_p.P270P	p.P275P	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			7	1118	-			275			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.825G>A	CCDS32743.1																																																																																				PASS	0.627	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		38	109	38	109	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74623247	74623247	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:74623247C>T	ENST00000156626.7	-	4	1273	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	358					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.G358G(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ACCGGAGGCTCCCAGCGGGGA	0.632																																						uc002jsh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1072-1074)GGG>GGA		sialyltransferase 7A							60.0	54.0	56.0					17																	74623247		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74623247C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1074G>A	17.37:g.74623247C>T						ST6GALNAC1_uc002jsi.2_Silent_p.G226G|ST6GALNAC1_uc002jsj.2_RNA	p.G358G	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			4	1248	-			358			Lumenal (Potential).		Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.1074G>A	CCDS11748.1																																																																																				PASS	0.632	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		7	46	7	46	---	---	---	---
JMJD6	23210	broad.mit.edu	37	17	74717909	74717909	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:74717909C>A	ENST00000397625.4	-	4	1026	c.912G>T	c.(910-912)ggG>ggT	p.G304G	JMJD6_ENST00000445478.2_Silent_p.G304G|JMJD6_ENST00000585429.1_Silent_p.G304G	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	304	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.G304G(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ACTTTGGTCTCCCTCTTACCG	0.443																																						uc002jso.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(910-912)GGG>GGT		jumonji domain containing 6 isoform 2							174.0	163.0	166.0					17																	74717909		1973	4154	6127	SO:0001819	synonymous_variant	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74717909C>A	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.912G>T	17.37:g.74717909C>A						JMJD6_uc002jsn.1_Silent_p.G304G|JMJD6_uc010dgz.2_Silent_p.G304G	p.G304G	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			4	1236	-			304			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Silent	SNP	ENST00000397625.4	37	c.912G>T	CCDS42384.1																																																																																				PASS	0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		13	104	13	104	---	---	---	---
JMJD6	23210	broad.mit.edu	37	17	74718008	74718008	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:74718008C>G	ENST00000397625.4	-	4	927	c.813G>C	c.(811-813)tgG>tgC	p.W271C	JMJD6_ENST00000445478.2_Missense_Mutation_p.W271C|JMJD6_ENST00000585429.1_Missense_Mutation_p.W271C	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	271	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.W271C(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CAACATGCCACCAGCCTCCTG	0.443																																						uc002jso.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(811-813)TGG>TGC		jumonji domain containing 6 isoform 2							112.0	103.0	106.0					17																	74718008		1998	4172	6170	SO:0001583	missense	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74718008C>G	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.813G>C	17.37:g.74718008C>G	ENSP00000380750:p.Trp271Cys					JMJD6_uc002jsn.1_Missense_Mutation_p.W271C|JMJD6_uc010dgz.2_Missense_Mutation_p.W271C	p.W271C	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN			4	1137	-			271			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	ENST00000397625.4	37	c.813G>C	CCDS42384.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114254	0.77210	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.76316	-1.01;-1.01	5.49	5.49	0.81192	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	M	0.93507	3.425	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	0.93389	0.6750	10	0.87932	D	0	6.5494	19.4304	0.94762	0.0:1.0:0.0:0.0	.	271;271;271	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	C	271	ENSP00000394085:W271C;ENSP00000380750:W271C	ENSP00000302916:W271C	W	-	3	0	JMJD6	72229603	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.810000	0.86072	2.575000	0.86900	0.555000	0.69702	TGG		PASS	0.443	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		7	49	7	49	---	---	---	---
HGS	9146	broad.mit.edu	37	17	79658588	79658588	+	Missense_Mutation	SNP	G	G	C	rs142599461		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:79658588G>C	ENST00000329138.4	+	8	784	c.649G>C	c.(649-651)Gag>Cag	p.E217Q		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	217					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.E217Q(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCCCTGCTACGAGCAGCTGAA	0.602																																						uc002kbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)GAG>CAG		hepatocyte growth factor-regulated tyrosine		G	GLN/GLU	1,4405	2.1+/-5.4	0,1,2202	118.0	104.0	109.0		649	4.0	1.0	17	dbSNP_134	109	0,8600		0,0,4300	no	missense	HGS	NM_004712.4	29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	217/778	79658588	1,13005	2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79658588G>C	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.649G>C	17.37:g.79658588G>C	ENSP00000331201:p.Glu217Gln					HGS_uc010wus.1_Missense_Mutation_p.E217Q	p.E217Q	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		8	726	+	all_neural(118;0.0878)|all_lung(278;0.23)		217			FYVE-type.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.649G>C	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494645	0.64186	2.27E-4	0.0	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.71934	-0.61	3.98	3.98	0.46160	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	L	0.43757	1.38	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.71500	-0.4574	10	0.17369	T	0.5	-36.1275	15.215	0.73258	0.0:0.0:1.0:0.0	.	217	O14964	HGS_HUMAN	Q	217	ENSP00000331201:E217Q	ENSP00000331201:E217Q	E	+	1	0	HGS	77268993	1.000000	0.71417	0.989000	0.46669	0.462000	0.32619	8.934000	0.92915	2.037000	0.60232	0.491000	0.48974	GAG		PASS	0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		22	165	22	165	---	---	---	---
P4HB	5034	broad.mit.edu	37	17	79801953	79801953	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:79801953C>G	ENST00000331483.4	-	11	1684	c.1462G>C	c.(1462-1464)Gaa>Caa	p.E488Q	RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Missense_Mutation_p.E444Q|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	488					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)	p.E488Q(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTGCTTCTTCCAGGTCCTCG	0.607																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1462-1464)GAA>CAA		prolyl 4-hydroxylase, beta subunit precursor							176.0	176.0	176.0					17																	79801953		2203	4300	6503	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79801953C>G	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1462G>C	17.37:g.79801953C>G	ENSP00000327801:p.Glu488Gln					P4HB_uc002kbl.1_Missense_Mutation_p.E165Q|P4HB_uc002kbm.1_Missense_Mutation_p.E165Q	p.E488Q	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		11	1659	-	all_neural(118;0.0878)|Ovarian(332;0.12)		488					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.1462G>C	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.369592|4.369592	0.82463|0.82463	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000415593	T|.	0.03982|.	3.74|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.322125|.	0.36002|.	N|.	0.002846|.	T|T	0.47358|0.47358	0.1441|0.1441	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.72982|.	0.979|.	T|T	0.43343|0.43343	-0.9397|-0.9397	10|5	0.41790|.	T|.	0.15|.	.|.	19.3135|19.3135	0.94202|0.94202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	488|.	P07237|.	PDIA1_HUMAN|.	Q|A	488;431;472|253	ENSP00000327801:E488Q|.	ENSP00000327801:E488Q|.	E|G	-|-	1|2	0|0	P4HB|P4HB	77395242|77395242	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.877000|0.877000	0.50540|0.50540	5.675000|5.675000	0.68123|0.68123	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.607	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		63	179	63	179	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12678316	12678316	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:12678316G>A	ENST00000262127.2	-	10	1640	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000589405.1_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.S397F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	472					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.S472F(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACTGCATCAGAGGGTTGACA	0.433																																						uc002kri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1414-1416)TCT>TTT		centrosomal protein 76kDa							203.0	193.0	197.0					18																	12678316		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12678316G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1415C>T	18.37:g.12678316G>A	ENSP00000262127:p.Ser472Phe					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.S294F|CEP76_uc010wzz.1_Missense_Mutation_p.S397F	p.S472F	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			10	1571	-			472					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1415C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263148	0.80358	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.36699	1.24;1.24	5.6	5.6	0.85130	.	0.054506	0.85682	D	0.000000	T	0.43233	0.1238	M	0.65498	2.005	0.58432	D	0.999999	P;P	0.49783	0.919;0.928	P;P	0.46718	0.525;0.509	T	0.31696	-0.9934	10	0.40728	T	0.16	-19.1133	12.8987	0.58113	0.0742:0.0:0.9258:0.0	.	397;472	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	F	472;397	ENSP00000262127:S472F;ENSP00000403074:S397F	ENSP00000262127:S472F	S	-	2	0	CEP76	12668316	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.038000	0.88943	2.638000	0.89438	0.561000	0.74099	TCT		PASS	0.433	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		8	315	8	315	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13621222	13621222	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:13621222C>T	ENST00000359446.5	+	4	756	c.288C>T	c.(286-288)ttC>ttT	p.F96F	LDLRAD4_ENST00000587757.1_Silent_p.F59F|LDLRAD4_ENST00000585931.1_Silent_p.F19F|LDLRAD4_ENST00000586765.1_Silent_p.F59F|LDLRAD4_ENST00000399848.3_Silent_p.F96F|LDLRAD4_ENST00000361205.4_Silent_p.F96F	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	96					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)	p.F96F(1)|p.F59F(1)									CGCGGTCCTTCATCAACCGCC	0.622																																						uc002ksa.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(286-288)TTC>TTT		hypothetical protein LOC753 isoform alpha 1							116.0	92.0	100.0					18																	13621222		2203	4300	6503	SO:0001819	synonymous_variant	753					integral to membrane|plasma membrane		g.chr18:13621222C>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.288C>T	18.37:g.13621222C>T						C18orf1_uc002ksb.2_Silent_p.F96F|C18orf1_uc002kse.2_Silent_p.F59F|C18orf1_uc002ksf.2_Silent_p.F59F|C18orf1_uc002ksg.1_Silent_p.F19F|C18orf1_uc002ksh.1_Silent_p.F38F|C18orf1_uc002ksi.1_Silent_p.F38F	p.F96F	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	956	+			96			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.288C>T	CCDS32793.1																																																																																				PASS	0.622	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		16	124	16	124	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18588119	18588119	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:18588119G>C	ENST00000399799.2	-	14	2387	c.1447C>G	c.(1447-1449)Cag>Gag	p.Q483E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	483	Interaction with FHOD1.				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)	p.Q483E(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTCAATCTGAGACACTGTA	0.333																																						uc002kte.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(1447-1449)CAG>GAG		Rho-associated, coiled-coil containing protein							147.0	130.0	136.0					18																	18588119		2202	4298	6500	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.chr18:18588119G>C		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.1447C>G	18.37:g.18588119G>C	ENSP00000382697:p.Gln483Glu						p.Q483E	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			14	2388	-	Melanoma(1;0.165)		483			Interaction with FHOD1.|Potential.|REM.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1447C>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040380	0.35989	.	.	ENSG00000067900	ENST00000399799	T	0.19250	2.16	5.46	5.46	0.80206	.	0.146893	0.47455	D	0.000238	T	0.24470	0.0593	L	0.54323	1.7	0.36077	D	0.842531	B	0.16166	0.016	B	0.20184	0.028	T	0.14980	-1.0453	10	0.17832	T	0.49	.	19.4868	0.95032	0.0:0.0:1.0:0.0	.	483	Q13464	ROCK1_HUMAN	E	483	ENSP00000382697:Q483E	ENSP00000382697:Q483E	Q	-	1	0	ROCK1	16842117	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.719000	0.68462	2.838000	0.97847	0.591000	0.81541	CAG		PASS	0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	94	7	94	---	---	---	---
SNRPD1	6632	broad.mit.edu	37	18	19202685	19202685	+	Splice_Site	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:19202685G>A	ENST00000300413.5	+	2	177		c.e2-1		SNRPD1_ENST00000579618.1_Splice_Site|SNRPD1_ENST00000582475.1_Intron	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa						gene expression (GO:0010467)|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)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|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)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		lung(2)|prostate(1)	3						CCTATTTATAGATTTTTGATG	0.343																																						uc002ktj.1																			1	Unknown(1)		lung(1)		0						c.e2-1		small nuclear ribonucleoprotein D1 polypeptide							54.0	54.0	54.0					18																	19202685		2203	4300	6503	SO:0001630	splice_region_variant	6632				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding|RNA binding	g.chr18:19202685G>A	L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"""small nuclear ribonucleoprotein D1 polypeptide (16kD)"""	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.15-1G>A	18.37:g.19202685G>A							p.R5_splice	NM_006938	NP_008869	P62314	SMD1_HUMAN			2	146	+								B5BTZ1|P13641	Splice_Site	SNP	ENST00000300413.5	37	c.15_splice	CCDS32801.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057205	0.76074	.	.	ENSG00000167088	ENST00000300413	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7288	0.77784	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRPD1	17456683	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	9.674000	0.98633	2.376000	0.81061	0.557000	0.71058	.		PASS	0.343	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444020.2	NM_006938	Intron	4	62	4	62	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057141	22057141	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:22057141C>T	ENST00000256906.4	+	3	888	c.788C>T	c.(787-789)tCa>tTa	p.S263L	HRH4_ENST00000426880.2_Missense_Mutation_p.S175L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	263					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.S263L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	ATGTTTTCCTCAAGAACCAAG	0.418																																						uc002kvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(787-789)TCA>TTA		histamine H4 receptor isoform 1	Clozapine(DB00363)						115.0	114.0	114.0					18																	22057141		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057141C>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.788C>T	18.37:g.22057141C>T	ENSP00000256906:p.Ser263Leu					HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.S175L	p.S263L	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			3	888	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		263			Cytoplasmic (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.788C>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	C	4.606	0.112594	0.08831	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.70986	-0.53;-0.43	5.79	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.928471	0.09112	N	0.846918	T	0.32436	0.0829	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24012	-1.0172	10	0.23891	T	0.37	-1.7183	7.5394	0.27729	0.0:0.2289:0.0:0.7711	.	175;263	B2KJ48;Q9H3N8	.;HRH4_HUMAN	L	263;175	ENSP00000256906:S263L;ENSP00000402526:S175L	ENSP00000256906:S263L	S	+	2	0	HRH4	20311139	0.000000	0.05858	0.032000	0.17829	0.024000	0.10985	-0.036000	0.12185	1.032000	0.39892	-0.238000	0.12139	TCA		PASS	0.418	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			32	244	32	244	---	---	---	---
DSC1	1823	broad.mit.edu	37	18	28710533	28710533	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:28710533G>T	ENST00000257198.5	-	16	2890	c.2629C>A	c.(2629-2631)Cta>Ata	p.L877I	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	877					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)	p.L877I(1)		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)			AGGTGATCTAGAAACTCCAGT	0.428																																						uc002kwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2629-2631)CTA>ATA		desmocollin 1 isoform Dsc1a preproprotein							172.0	167.0	169.0					18																	28710533		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710533G>T	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.2629C>A	18.37:g.28710533G>T	ENSP00000257198:p.Leu877Ile					DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	p.L877I	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2891	-			877			Cytoplasmic (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2629C>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959703	0.74016	.	.	ENSG00000134765	ENST00000257198	D	0.86627	-2.15	6.17	1.92	0.25849	Cadherin, cytoplasmic domain (1);	0.000000	0.41605	D	0.000855	D	0.92632	0.7659	M	0.88450	2.955	0.43688	D	0.996134	D	0.89917	1.0	D	0.87578	0.998	D	0.90741	0.4650	10	0.87932	D	0	.	6.6483	0.22947	0.617:0.0:0.383:0.0	.	877	Q08554	DSC1_HUMAN	I	877	ENSP00000257198:L877I	ENSP00000257198:L877I	L	-	1	2	DSC1	26964531	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	3.203000	0.51075	0.480000	0.27534	0.655000	0.94253	CTA		PASS	0.428	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		19	271	19	271	---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33691181	33691181	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:33691181C>T	ENST00000590986.1	-	9	2245	c.1956G>A	c.(1954-1956)atG>atA	p.M652I	SLC39A6_ENST00000269187.5_Missense_Mutation_p.M652I|SLC39A6_ENST00000440549.2_Missense_Mutation_p.M377I			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	652					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.M652I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTTAACGGTCATGCCAGCCT	0.378																																						uc010dmy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1954-1956)ATG>ATA		solute carrier family 39 (zinc transporter),							78.0	69.0	72.0					18																	33691181		1891	4128	6019	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33691181C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1956G>A	18.37:g.33691181C>T	ENSP00000465915:p.Met652Ile					SLC39A6_uc002kzj.2_Missense_Mutation_p.M377I	p.M652I	NM_012319	NP_036451	Q13433	S39A6_HUMAN			9	2246	-			652			Cytoplasmic (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.1956G>A	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221621	0.95139	.	.	ENSG00000141424	ENST00000269187;ENST00000440549	T;T	0.49139	0.79;0.79	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	L	0.49699	1.58	0.80722	D	1	D;D	0.71674	0.998;0.982	D;D	0.74023	0.982;0.961	T	0.64571	-0.6376	10	0.72032	D	0.01	-19.2614	17.7689	0.88486	0.0:1.0:0.0:0.0	.	652;377	Q13433;Q13433-2	S39A6_HUMAN;.	I	652;377	ENSP00000269187:M652I;ENSP00000401139:M377I	ENSP00000269187:M652I	M	-	3	0	SLC39A6	31945179	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.818000	0.86416	2.800000	0.96347	0.455000	0.32223	ATG		PASS	0.378	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			5	84	5	84	---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33696661	33696661	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:33696661C>T	ENST00000590986.1	-	6	1730	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	SLC39A6_ENST00000269187.5_Missense_Mutation_p.E481K|SLC39A6_ENST00000440549.2_Missense_Mutation_p.E206K			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	481					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E481K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ACTTTCTCCTCATTTGTTGAA	0.368																																						uc010dmy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1441-1443)GAG>AAG		solute carrier family 39 (zinc transporter),							179.0	161.0	167.0					18																	33696661		1879	4115	5994	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33696661C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1441G>A	18.37:g.33696661C>T	ENSP00000465915:p.Glu481Lys					SLC39A6_uc002kzj.2_Missense_Mutation_p.E206K	p.E481K	NM_012319	NP_036451	Q13433	S39A6_HUMAN			6	1731	-			481			Cytoplasmic (Potential).		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.1441G>A	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396108	0.62177	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.72051	0.04;-0.62	5.22	5.22	0.72569	.	0.503112	0.22245	N	0.062639	T	0.66228	0.2768	L	0.43152	1.355	0.38930	D	0.957914	B;P	0.50156	0.387;0.932	B;P	0.47827	0.137;0.558	T	0.62590	-0.6822	10	0.08837	T	0.75	-16.0818	14.6418	0.68732	0.0:1.0:0.0:0.0	.	481;206	Q13433;Q13433-2	S39A6_HUMAN;.	K	481;206;206	ENSP00000269187:E481K;ENSP00000401139:E206K	ENSP00000269187:E481K	E	-	1	0	SLC39A6	31950659	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.762000	0.62250	2.617000	0.88574	0.655000	0.94253	GAG		PASS	0.368	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			25	79	25	79	---	---	---	---
ATP5A1	498	broad.mit.edu	37	18	43667006	43667006	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:43667006G>C	ENST00000398752.6	-	8	1265	c.1144C>G	c.(1144-1146)Cca>Gca	p.P382A	ATP5A1_ENST00000593152.2_Missense_Mutation_p.P332A|ATP5A1_ENST00000590665.1_Missense_Mutation_p.P360A|ATP5A1_ENST00000282050.2_Missense_Mutation_p.P382A	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	382					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|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)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|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)	p.P382A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ACATTTGTTGGAATGTAAGCA	0.398																																						uc002lbr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1144-1146)CCA>GCA		ATP synthase, H+ transporting, mitochondrial F1							59.0	57.0	58.0					18																	43667006		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43667006G>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1144C>G	18.37:g.43667006G>C	ENSP00000381736:p.Pro382Ala					ATP5A1_uc010dnl.1_Missense_Mutation_p.P332A|ATP5A1_uc002lbs.1_Missense_Mutation_p.P332A|ATP5A1_uc002lbt.1_Missense_Mutation_p.P382A	p.P382A	NM_004046	NP_004037	P25705	ATPA_HUMAN			8	1234	-			382					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1144C>G	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320026	0.81469	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78816	-1.21;-1.21	4.6	4.6	0.57074	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91047	0.4875	10	0.87932	D	0	-15.3896	17.4398	0.87562	0.0:0.0:1.0:0.0	.	382	P25705	ATPA_HUMAN	A	382;382;332	ENSP00000282050:P382A;ENSP00000381736:P382A	ENSP00000282050:P382A	P	-	1	0	ATP5A1	41921004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.759000	0.98931	2.113000	0.64589	0.563000	0.77884	CCA		PASS	0.398	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		7	122	7	122	---	---	---	---
SKA1	220134	broad.mit.edu	37	18	47918511	47918511	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:47918511C>G	ENST00000285116.3	+	7	873	c.662C>G	c.(661-663)aCt>aGt	p.T221S	SKA1_ENST00000417656.2_Missense_Mutation_p.T175S|SKA1_ENST00000398452.2_Missense_Mutation_p.T221S|SKA1_ENST00000488454.1_Missense_Mutation_p.T70S	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	221					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.T221S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GAGTTCACAACTTTGAAAGCT	0.373																																						uc002let.2																			1	Substitution - Missense(1)		lung(1)		0						c.(661-663)ACT>AGT		spindle and KT associated 1							93.0	95.0	95.0					18																	47918511		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918511C>G	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.662C>G	18.37:g.47918511C>G	ENSP00000285116:p.Thr221Ser					SKA1_uc002leu.2_Missense_Mutation_p.T221S|SKA1_uc010xdl.1_Missense_Mutation_p.T175S	p.T221S	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN			7	846	+			221					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.662C>G	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	4.813	0.151127	0.09185	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.40476	1.03;1.03;1.03	6.04	2.97	0.34412	.	0.914610	0.09542	N	0.788150	T	0.22282	0.0537	N	0.05078	-0.115	0.09310	N	0.999996	B;B	0.10296	0.001;0.003	B;B	0.12837	0.002;0.008	T	0.12167	-1.0558	10	0.09338	T	0.73	.	12.561	0.56281	0.6118:0.3882:0.0:0.0	.	175;221	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	S	221;175;221	ENSP00000285116:T221S;ENSP00000397222:T175S;ENSP00000381470:T221S	ENSP00000285116:T221S	T	+	2	0	SKA1	46172509	0.480000	0.25933	0.540000	0.28089	0.907000	0.53573	2.011000	0.40922	0.853000	0.35312	-0.217000	0.12591	ACT		PASS	0.373	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		49	179	49	179	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60242387	60242387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:60242387G>T	ENST00000269499.5	+	13	3491	c.3073G>T	c.(3073-3075)Gga>Tga	p.G1025*	ZCCHC2_ENST00000586834.1_Nonsense_Mutation_p.G704*	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1025						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.G1025*(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGGGACCAATGGAAACCTTCA	0.502																																						uc002lip.3																			2	Substitution - Nonsense(2)	p.G1025*(1)	lung(2)	lung(1)|prostate(1)	2						c.(3073-3075)GGA>TGA		zinc finger, CCHC domain containing 2							85.0	96.0	92.0					18																	60242387		2131	4246	6377	SO:0001587	stop_gained	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242387G>T	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3073G>T	18.37:g.60242387G>T	ENSP00000269499:p.Gly1025*					ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Nonsense_Mutation_p.G495*	p.G1025*	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN			13	3073	+			1025					B2RPG6|Q8N3S1|Q9NXF6	Nonsense_Mutation	SNP	ENST00000269499.5	37	c.3073G>T	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	39	7.290647	0.98189	.	.	ENSG00000141664	ENST00000269499	.	.	.	4.76	3.89	0.44902	.	0.243259	0.33161	N	0.005218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.8185	13.0224	0.58796	0.0774:0.0:0.9226:0.0	.	.	.	.	X	1025	.	ENSP00000269499:G1025X	G	+	1	0	ZCCHC2	58393367	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.560000	0.45896	1.360000	0.45960	0.650000	0.86243	GGA		PASS	0.502	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		15	61	15	61	---	---	---	---
SERPINB5	5268	broad.mit.edu	37	18	61160267	61160267	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:61160267G>C	ENST00000382771.4	+	5	798	c.506G>C	c.(505-507)gGc>gCc	p.G169A	SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.G169A	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	169					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G169A(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TACTTTGTTGGCAAGTGGATG	0.408																																						uc002liz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(505-507)GGC>GCC		serine (or cysteine) proteinase inhibitor, clade							138.0	131.0	134.0					18																	61160267		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160267G>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.506G>C	18.37:g.61160267G>C	ENSP00000372221:p.Gly169Ala					SERPINB5_uc002liy.2_Missense_Mutation_p.G169A	p.G169A	NM_002639	NP_002630	P36952	SPB5_HUMAN			5	648	+			169					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.506G>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278450	0.80692	.	.	ENSG00000206075	ENST00000382771	D	0.90197	-2.63	6.05	6.05	0.98169	Serpin domain (3);	0.152498	0.46145	D	0.000318	D	0.94132	0.8118	M	0.69248	2.105	0.44927	D	0.997945	D;D	0.76494	0.998;0.999	P;D	0.64144	0.882;0.922	D	0.94070	0.7334	10	0.72032	D	0.01	.	16.0264	0.80548	0.0:0.1714:0.8285:0.0	.	169;169	P36952;P36952-2	SPB5_HUMAN;.	A	169	ENSP00000372221:G169A	ENSP00000372221:G169A	G	+	2	0	SERPINB5	59311247	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.341000	0.65964	2.880000	0.98712	0.655000	0.94253	GGC		PASS	0.408	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		106	172	106	172	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61223515	61223515	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:61223515G>T	ENST00000269491.1	+	1	123	c.123G>T	c.(121-123)atG>atT	p.M41I	SERPINB12_ENST00000382768.1_Missense_Mutation_p.M41I	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	41					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.M41I(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CCCTTGGTATGGTACGCTTGG	0.453																																						uc010xen.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)ATG>ATT		serine (or cysteine) proteinase inhibitor, clade							199.0	187.0	191.0					18																	61223515		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.chr18:61223515G>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.123G>T	18.37:g.61223515G>T	ENSP00000269491:p.Met41Ile					SERPINB12_uc010xeo.1_Missense_Mutation_p.M41I	p.M41I	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			1	123	+			41					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.123G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074995	0.55646	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.85629	-2.01;-2.01	5.13	5.13	0.70059	Serpin domain (3);	0.215615	0.41823	D	0.000816	D	0.91365	0.7276	M	0.78456	2.415	0.37232	D	0.905715	D;D	0.71674	0.998;0.997	D;D	0.79108	0.963;0.992	D	0.93272	0.6652	10	0.66056	D	0.02	.	12.008	0.53270	0.0796:0.0:0.9204:0.0	.	41;41	Q3SYB4;Q96P63	.;SPB12_HUMAN	I	41	ENSP00000269491:M41I;ENSP00000372218:M41I	ENSP00000269491:M41I	M	+	3	0	SERPINB12	59374495	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	3.510000	0.53393	2.397000	0.81536	0.655000	0.94253	ATG		PASS	0.453	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		83	280	83	280	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61305057	61305057	+	Missense_Mutation	SNP	G	G	C	rs370621712		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:61305057G>C	ENST00000341074.5	-	8	1184	c.1069C>G	c.(1069-1071)Cct>Gct	p.P357A	SERPINB4_ENST00000356424.6_Missense_Mutation_p.P305A	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	357					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P357A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTAGTTGAAGGAGATGATAAT	0.453																																						uc002ljf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1069-1071)CCT>GCT		serine (or cysteine) proteinase inhibitor, clade							145.0	137.0	140.0					18																	61305057		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305057G>C	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1069C>G	18.37:g.61305057G>C	ENSP00000343445:p.Pro357Ala					SERPINB4_uc002lje.2_Missense_Mutation_p.P336A|SERPINB4_uc002ljg.2_Missense_Mutation_p.P357A	p.P357A	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1155	-			357					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1069C>G	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.196273	0.00299	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.83419	-1.72;-1.72	3.28	-6.56	0.01848	Serpin domain (3);	.	.	.	.	T	0.66925	0.2839	L	0.42686	1.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40270	-0.9572	9	0.15952	T	0.53	.	1.3237	0.02121	0.391:0.0896:0.2389:0.2806	.	357;357;336	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	A	357;305	ENSP00000343445:P357A;ENSP00000348795:P305A	ENSP00000343445:P357A	P	-	1	0	SERPINB4	59456037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.669000	0.00201	-4.624000	0.00039	-3.390000	0.00040	CCT		PASS	0.453	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		9	139	9	139	---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70417779	70417779	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:70417779C>T	ENST00000327305.6	-	9	1716	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	NETO1_ENST00000299430.2_Silent_p.V352V|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.V353V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	353					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.V353V(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGAGGATGATCACGATGCAGG	0.468																																						uc002lkw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1057-1059)GTG>GTA		neuropilin- and tolloid-like protein 1 isoform 3							90.0	71.0	78.0					18																	70417779		2203	4299	6502	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417779C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1059G>A	18.37:g.70417779C>T						NETO1_uc002lkx.1_Silent_p.V352V|NETO1_uc002lky.1_Silent_p.V353V	p.V353V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1343	-		Esophageal squamous(42;0.129)	353			Helical; (Potential).		Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1059G>A	CCDS12000.1																																																																																				PASS	0.468	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		11	120	11	120	---	---	---	---
FBXO15	201456	broad.mit.edu	37	18	71793322	71793322	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:71793322G>C	ENST00000419743.2	-	6	879	c.800C>G	c.(799-801)tCt>tGt	p.S267C	FBXO15_ENST00000269500.5_Missense_Mutation_p.S191C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	267						SCF ubiquitin ligase complex (GO:0019005)		p.S191C(1)|p.S267C(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGCAATTAAAGAATGCCATCG	0.438																																						uc002lle.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(571-573)TCT>TGT		F-box protein 15 isoform 1							120.0	110.0	114.0					18																	71793322		2203	4300	6503	SO:0001583	missense	201456							g.chr18:71793322G>C	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.800C>G	18.37:g.71793322G>C	ENSP00000393154:p.Ser267Cys					FBXO15_uc002llf.2_Missense_Mutation_p.S267C	p.S191C	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	6	908	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	191					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.572C>G	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	8.386	0.838609	0.16891	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.62232	0.06;0.04	5.42	5.42	0.78866	.	0.048804	0.85682	D	0.000000	T	0.80914	0.4715	M	0.80847	2.515	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82222	-0.0564	10	0.59425	D	0.04	-26.8006	18.3525	0.90343	0.0:0.0:1.0:0.0	.	267;191	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	191;267	ENSP00000269500:S191C;ENSP00000393154:S267C	ENSP00000269500:S191C	S	-	2	0	FBXO15	69944302	1.000000	0.71417	0.957000	0.39632	0.145000	0.21501	6.474000	0.73578	2.708000	0.92522	0.650000	0.86243	TCT		PASS	0.438	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		48	105	48	105	---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77246387	77246387	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr18:77246387C>T	ENST00000427363.2	+	9	2232	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Silent_p.L272L|NFATC1_ENST00000329101.4_Silent_p.L731L|NFATC1_ENST00000545796.1_Silent_p.L272L|NFATC1_ENST00000253506.5_Silent_p.L744L|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Silent_p.L731L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	744	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L731L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCTCCTGCCTCGTGGCCGGCT	0.662																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2230-2232)CTC>CTT		nuclear factor of activated T-cells, cytosolic							101.0	115.0	111.0					18																	77246387		2203	4299	6502	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246387C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2232C>T	18.37:g.77246387C>T						NFATC1_uc002lnd.2_Silent_p.L744L|NFATC1_uc002lne.2_Silent_p.L272L|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.L272L|NFATC1_uc002lnf.2_Silent_p.L731L|NFATC1_uc002lng.2_Silent_p.L731L|NFATC1_uc010xfk.1_Intron	p.L744L	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2685	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	744			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2232C>T																																																																																					PASS	0.662	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		26	331	26	331	---	---	---	---
MISP	126353	broad.mit.edu	37	19	757477	757477	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:757477G>T	ENST00000215582.6	+	2	634	c.531G>T	c.(529-531)cgG>cgT	p.R177R		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	177					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R177R(1)									GCCCACCTCGGTCCACGCCCC	0.672																																						uc002lpo.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(529-531)CGG>CGT		hypothetical protein LOC126353							19.0	23.0	21.0					19																	757477		2192	4294	6486	SO:0001819	synonymous_variant	126353							g.chr19:757477G>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.531G>T	19.37:g.757477G>T							p.R177R	NM_173481	NP_775752	Q8IVT2	CS021_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	614	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	177						Silent	SNP	ENST00000215582.6	37	c.531G>T	CCDS12042.1																																																																																				PASS	0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		6	7	6	7	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1049354	1049354	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:1049354C>T	ENST00000263094.6	+	18	2701	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	ABCA7_ENST00000435683.2_Silent_p.L686L|ABCA7_ENST00000433129.1_Silent_p.L824L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	824	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.L824L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GCAGCCAGCCCTGCGGGGGCT	0.672																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2470-2472)CTG>TTG		ATP-binding cassette, sub-family A, member 7							38.0	46.0	43.0					19																	1049354		2197	4293	6490	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049354C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2470C>T	19.37:g.1049354C>T						ABCA7_uc010dsb.1_Silent_p.L686L	p.L824L	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	18	2701	+		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)	824			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.2470C>T	CCDS12055.1																																																																																				PASS	0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		13	108	13	108	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1049377	1049377	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:1049377C>T	ENST00000263094.6	+	18	2724	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ABCA7_ENST00000435683.2_Silent_p.F693F|ABCA7_ENST00000433129.1_Silent_p.F831F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	831	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.F831F(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GCCTGGACTTCTACCAGGGCC	0.701																																						uc002lqw.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(2491-2493)TTC>TTT		ATP-binding cassette, sub-family A, member 7							34.0	40.0	38.0					19																	1049377		2195	4291	6486	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1049377C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2493C>T	19.37:g.1049377C>T						ABCA7_uc010dsb.1_Silent_p.F693F	p.F831F	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	18	2724	+		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)	831			ABC transporter 1.		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.2493C>T	CCDS12055.1																																																																																				PASS	0.701	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	102	9	102	---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1251880	1251880	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:1251880G>C	ENST00000591446.2	+	3	773	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	MIDN_ENST00000300952.2_Missense_Mutation_p.E122Q			Q504T8	MIDN_HUMAN	midnolin	122						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.E122Q(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		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)		GCAAGCTCTCGAGAGTCTCAC	0.632																																						uc002lrp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GAG>CAG		midnolin							69.0	63.0	65.0					19																	1251880		2201	4297	6498	SO:0001583	missense	90007					nucleolus		g.chr19:1251880G>C	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.364G>C	19.37:g.1251880G>C	ENSP00000467679:p.Glu122Gln						p.E122Q	NM_177401	NP_796375	Q504T8	MIDN_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	879	+		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)	122					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.364G>C	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.268753	0.80469	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.11	3.11	0.35812	.	0.000000	0.85682	U	0.000000	T	0.68476	0.3005	L	0.52011	1.625	0.58432	D	0.999997	D	0.76494	0.999	D	0.79108	0.992	T	0.72144	-0.4379	9	0.72032	D	0.01	.	12.8855	0.58040	0.0:0.0:1.0:0.0	.	122	Q504T8	MIDN_HUMAN	Q	122	.	ENSP00000300952:E122Q	E	+	1	0	MIDN	1202880	1.000000	0.71417	0.963000	0.40424	0.540000	0.34992	8.216000	0.89764	1.568000	0.49683	0.457000	0.33378	GAG		PASS	0.632	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			17	46	17	46	---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1418235	1418235	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:1418235G>A	ENST00000233078.4	+	3	264	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DAZAP1_ENST00000336761.6_Missense_Mutation_p.E35K|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	35	RRM 1. {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)	p.E35K(2)		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)		CCAATATGGAGAAGTCGTAGA	0.478																																						uc002lsn.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(103-105)GAA>AAA		DAZ associated protein 1 isoform b							68.0	67.0	67.0					19																	1418235		2203	4300	6503	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1418235G>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.103G>A	19.37:g.1418235G>A	ENSP00000233078:p.Glu35Lys					DAZAP1_uc002lsm.2_Missense_Mutation_p.E35K|DAZAP1_uc002lso.2_Missense_Mutation_p.E35K|DAZAP1_uc002lsl.1_Missense_Mutation_p.E35K	p.E35K	NM_018959	NP_061832	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)	3	292	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	35			RRM 1.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.103G>A	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929463	0.92389	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.83992	-1.79;-1.79	4.78	3.75	0.43078	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.984	D	0.85639	0.1275	10	0.48119	T	0.1	.	11.8958	0.52656	0.0853:0.0:0.9147:0.0	.	35;35	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	K	35	ENSP00000233078:E35K;ENSP00000337132:E35K	ENSP00000233078:E35K	E	+	1	0	DAZAP1	1369235	1.000000	0.71417	0.842000	0.33263	0.994000	0.84299	9.808000	0.99193	1.013000	0.39391	0.491000	0.48974	GAA		PASS	0.478	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		13	108	13	108	---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1418262	1418262	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:1418262G>A	ENST00000233078.4	+	3	291	c.130G>A	c.(130-132)Gat>Aat	p.D44N	DAZAP1_ENST00000336761.6_Missense_Mutation_p.D44N|DAZAP1_ENST00000586579.1_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	44	RRM 1. {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)	p.D44N(2)		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)		TATCATGAAAGATAAAACCAC	0.483																																						uc002lsn.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(130-132)GAT>AAT		DAZ associated protein 1 isoform b							69.0	67.0	68.0					19																	1418262		2203	4300	6503	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1418262G>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.130G>A	19.37:g.1418262G>A	ENSP00000233078:p.Asp44Asn					DAZAP1_uc002lsm.2_Missense_Mutation_p.D44N|DAZAP1_uc002lso.2_Missense_Mutation_p.D44N|DAZAP1_uc002lsl.1_Missense_Mutation_p.D44N	p.D44N	NM_018959	NP_061832	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)	3	319	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	44			RRM 1.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.130G>A	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955063	0.92726	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.91686	-2.89;-2.89	5.08	5.08	0.68730	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.78223	2.4	0.80722	D	1	P;P	0.36438	0.553;0.498	P;P	0.54706	0.759;0.449	D	0.95672	0.8724	10	0.59425	D	0.04	.	17.4359	0.87552	0.0:0.0:1.0:0.0	.	44;44	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	N	44	ENSP00000233078:D44N;ENSP00000337132:D44N	ENSP00000233078:D44N	D	+	1	0	DAZAP1	1369262	1.000000	0.71417	0.863000	0.33907	0.996000	0.88848	9.808000	0.99193	2.358000	0.79984	0.491000	0.48974	GAT		PASS	0.483	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		17	117	17	117	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834766	2834766	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:2834766G>C	ENST00000317243.5	+	5	1731	c.1533G>C	c.(1531-1533)caG>caC	p.Q511H		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	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)	p.Q511H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACATCAGAAAACTCACA	0.468																																						uc002lwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1531-1533)CAG>CAC		zinc finger protein 554							60.0	65.0	63.0					19																	2834766		2167	4282	6449	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834766G>C	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.1533G>C	19.37:g.2834766G>C	ENSP00000321132:p.Gln511His					ZNF554_uc002lwl.2_Missense_Mutation_p.Q460H	p.Q511H	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1731	+		Hepatocellular(1079;0.137)	511			C2H2-type 8.		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1533G>C	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366551	0.24771	.	.	ENSG00000172006	ENST00000317243	T	0.07688	3.17	2.86	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09905	0.0243	M	0.70275	2.135	0.80722	D	1	B	0.29162	0.235	B	0.20577	0.03	T	0.06481	-1.0824	9	0.62326	D	0.03	.	7.2371	0.26076	0.0:0.0:0.7359:0.2641	.	511	Q86TJ5	ZN554_HUMAN	H	511	ENSP00000321132:Q511H	ENSP00000321132:Q511H	Q	+	3	2	ZNF554	2785766	0.001000	0.12720	0.989000	0.46669	0.735000	0.41995	0.569000	0.23638	1.615000	0.50252	0.643000	0.83706	CAG		PASS	0.468	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		14	114	14	114	---	---	---	---
TLE2	7089	broad.mit.edu	37	19	3005560	3005560	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:3005560C>T	ENST00000262953.6	-	17	2033	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	TLE2_ENST00000455444.2_Missense_Mutation_p.G469S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.G592S|TLE2_ENST00000591529.1_Missense_Mutation_p.G605S|TLE2_ENST00000443826.3_Missense_Mutation_p.G469S|TLE2_ENST00000447365.2_Missense_Mutation_p.G258S|TLE2_ENST00000426948.2_Missense_Mutation_p.G605S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	591					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G591S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CAGCTGGCGCCGTCCGTGTGG	0.657																																						uc002lww.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1771-1773)GGC>AGC		transducin-like enhancer protein 2 isoform 1							42.0	48.0	46.0					19																	3005560		2056	4227	6283	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3005560C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1771G>A	19.37:g.3005560C>T	ENSP00000262953:p.Gly591Ser					TLE2_uc010xhb.1_Missense_Mutation_p.G258S|TLE2_uc010dth.2_Missense_Mutation_p.G592S|TLE2_uc010xhc.1_Missense_Mutation_p.G469S|TLE2_uc010dti.2_Missense_Mutation_p.G605S	p.G591S	NM_003260	NP_003251	Q04725	TLE2_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)	17	2034	-			591			WD 4.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1771G>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054087	0.75960	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.36	3.3	0.37823	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	0.62938	0.2469	L	0.31578	0.945	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.997	D;D;D;P;P	0.97110	0.924;0.999;1.0;0.892;0.892	T	0.64495	-0.6394	10	0.56958	D	0.05	-14.8593	11.6268	0.51151	0.1795:0.8205:0.0:0.0	.	469;258;605;469;591	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	S	591;469;140;585;258;469;605	ENSP00000262953:G591S;ENSP00000413107:G469S;ENSP00000406523:G258S;ENSP00000392427:G469S;ENSP00000392869:G605S	ENSP00000262953:G591S	G	-	1	0	TLE2	2956560	1.000000	0.71417	0.558000	0.28319	0.564000	0.35744	5.880000	0.69698	1.161000	0.42604	0.462000	0.41574	GGC		PASS	0.657	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		4	34	4	34	---	---	---	---
MIR7-3HG	284424	broad.mit.edu	37	19	4770786	4770786	+	lincRNA	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:4770786T>G	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		GCAGACTCCCTTCGACCTTCG	0.582																																						hsa-mir-7-3|MI0000265																			0					0															141.0	134.0	137.0					19																	4770786		1568	3582	5150			407045							g.chr19:4770786T>G	AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4770786T>G						C19orf30_uc002mbd.2_Intron|C19orf30_uc002mbe.2_Intron|C19orf30_uc010xii.1_Intron|uc010xij.1_RNA										+								D6W630|Q17RJ9|Q8N6C6	RNA	SNP	ENST00000586721.1	37	c.105T>G																																																																																					PASS	0.582	MIR7-3HG-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459345.1	NR_027148		29	102	29	102	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5785253	5785253	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:5785253G>A	ENST00000309061.7	-	13	2010	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	DUS3L_ENST00000320699.8_Silent_p.F396F|PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	638							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.F638F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCAAGAAGGCGAAGCTGGGGG	0.587																																						uc002mdc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1912-1914)TTC>TTT		dihydrouridine synthase 3-like isoform 1							28.0	27.0	27.0					19																	5785253		2195	4293	6488	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785253G>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1914C>T	19.37:g.5785253G>A						PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Silent_p.F396F	p.F638F	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			13	2011	-			638					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.1914C>T	CCDS32880.1																																																																																				PASS	0.587	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		5	24	5	24	---	---	---	---
MBD3L1	85509	broad.mit.edu	37	19	8953558	8953558	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:8953558G>C	ENST00000595891.1	+	3	435	c.204G>C	c.(202-204)caG>caC	p.Q68H	MBD3L1_ENST00000305625.2_Missense_Mutation_p.Q68H			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	68	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q68H(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TCTGCTGGCAGAGGAGACTGC	0.507																																						uc002mko.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)CAG>CAC		methyl-CpG binding domain protein 3-like							92.0	86.0	88.0					19																	8953558		2203	4300	6503	SO:0001583	missense	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953558G>C	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.204G>C	19.37:g.8953558G>C	ENSP00000471575:p.Gln68His						p.Q68H	NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN			1	290	+			68			Transcription repressor.		B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	c.204G>C	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	8.745	0.919991	0.17982	.	.	ENSG00000170948	ENST00000305625	T	0.44482	0.92	3.75	0.141	0.14811	.	0.000000	0.31233	N	0.008010	T	0.24353	0.0590	L	0.36672	1.1	0.29742	N	0.837035	B	0.18013	0.025	B	0.15484	0.013	T	0.06303	-1.0834	10	0.32370	T	0.25	-12.2132	2.5152	0.04667	0.1082:0.1857:0.515:0.1911	.	68	Q8WWY6	MB3L1_HUMAN	H	68	ENSP00000304198:Q68H	ENSP00000304198:Q68H	Q	+	3	2	MBD3L1	8814558	0.297000	0.24408	0.981000	0.43875	0.541000	0.35023	-0.469000	0.06648	0.127000	0.18452	0.655000	0.94253	CAG		PASS	0.507	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		27	110	27	110	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070300	9070300	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:9070300T>A	ENST00000397910.4	-	3	17349	c.17146A>T	c.(17146-17148)Aca>Tca	p.T5716S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5718	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5716S(2)|p.T1349S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGTGTTTGTATGCATGGAA	0.493																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(17146-17148)ACA>TCA		mucin 16							160.0	156.0	157.0					19																	9070300		2105	4223	6328	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070300T>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.17146A>T	19.37:g.9070300T>A	ENSP00000381008:p.Thr5716Ser						p.T5716S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17350	-			5718			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17146A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.198	-0.164410	0.06502	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.22	-2.45	0.06481	.	.	.	.	.	T	0.08358	0.0208	N	0.08118	0	.	.	.	B	0.12630	0.006	B	0.09377	0.004	T	0.26608	-1.0098	8	0.87932	D	0	.	1.8441	0.03155	0.442:0.2598:0.0:0.2982	.	5716	B5ME49	.	S	5716	ENSP00000381008:T5716S	ENSP00000381008:T5716S	T	-	1	0	MUC16	8931300	0.160000	0.22878	0.000000	0.03702	0.002000	0.02628	0.128000	0.15810	-1.065000	0.03168	0.374000	0.22700	ACA		PASS	0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	92	19	92	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9091316	9091316	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:9091316C>T	ENST00000397910.4	-	1	702	c.499G>A	c.(499-501)Gag>Aag	p.E167K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	167	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E167K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAGGTCTCAGTGGGGACT	0.443																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(499-501)GAG>AAG		mucin 16							101.0	100.0	101.0					19																	9091316		2045	4207	6252	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091316C>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.499G>A	19.37:g.9091316C>T	ENSP00000381008:p.Glu167Lys						p.E167K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	703	-			167			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.499G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.093	1.002287	0.19121	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.49	1.49	0.22878	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45629	-0.9248	8	0.87932	D	0	.	6.4203	0.21740	0.0:1.0:0.0:0.0	.	167	B5ME49	.	K	167	ENSP00000381008:E167K	ENSP00000381008:E167K	E	-	1	0	MUC16	8952316	0.005000	0.15991	0.005000	0.12908	0.402000	0.30811	1.634000	0.37123	1.132000	0.42129	0.313000	0.20887	GAG		PASS	0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		39	77	39	77	---	---	---	---
CDC37	11140	broad.mit.edu	37	19	10506652	10506652	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:10506652C>G	ENST00000222005.2	-	2	383	c.330G>C	c.(328-330)aaG>aaC	p.K110N		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	110					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)	p.K110N(1)		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)		AGGGCATGCTCTTCTCCTTCT	0.672																																						uc002mof.1																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)AAG>AAC		cell division cycle 37 protein							149.0	137.0	141.0					19																	10506652		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.chr19:10506652C>G	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.330G>C	19.37:g.10506652C>G	ENSP00000222005:p.Lys110Asn					CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.K110N|CDC37_uc002moh.2_Missense_Mutation_p.K110N	p.K110N	NM_007065	NP_008996	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	446	-			110					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.330G>C	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842153	0.71488	.	.	ENSG00000105401	ENST00000222005	T	0.52057	0.68	4.19	1.96	0.26148	Cdc37, N-terminal (1);	0.052310	0.85682	D	0.000000	T	0.61098	0.2320	M	0.73753	2.245	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.68039	0.955;0.955	T	0.61535	-0.7043	10	0.62326	D	0.03	.	7.3328	0.26592	0.1712:0.7302:0.0:0.0985	.	110;110	Q6FG59;Q16543	.;CDC37_HUMAN	N	110	ENSP00000222005:K110N	ENSP00000222005:K110N	K	-	3	2	CDC37	10367652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.313000	0.59160	0.876000	0.35872	0.555000	0.69702	AAG		PASS	0.672	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		32	232	32	232	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610666	10610666	+	Missense_Mutation	SNP	C	C	A	rs144429440		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:10610666C>A	ENST00000171111.5	-	2	591	c.44G>T	c.(43-45)cGa>cTa	p.R15L	KEAP1_ENST00000393623.2_Missense_Mutation_p.R15L|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	15					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R15L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGCAGGAATCGGCAGCAGGC	0.662																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(43-45)CGA>CTA		kelch-like ECH-associated protein 1							34.0	31.0	32.0					19																	10610666		2203	4296	6499	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610666C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.44G>T	19.37:g.10610666C>A	ENSP00000171111:p.Arg15Leu					KEAP1_uc002mor.1_Missense_Mutation_p.R15L	p.R15L	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	200	-			15					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.44G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	9.900	1.206633	0.22205	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70399	-0.48;-0.48	4.9	-0.399	0.12415	.	0.751364	0.11414	N	0.566508	T	0.43255	0.1239	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20672	-1.0268	10	0.30078	T	0.28	.	3.9825	0.09501	0.1707:0.4903:0.0:0.339	.	15	Q14145	KEAP1_HUMAN	L	15	ENSP00000171111:R15L;ENSP00000377245:R15L	ENSP00000171111:R15L	R	-	2	0	KEAP1	10471666	0.115000	0.22152	0.362000	0.25862	0.558000	0.35554	0.198000	0.17217	0.112000	0.17975	0.462000	0.41574	CGA		PASS	0.662	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		3	80	3	80	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A	rs376428796		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:10663612G>A	ENST00000309469.4	+	10	1467	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	432					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E432K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662																																						uc002mov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)GAG>AAG		APG4 autophagy 4 homolog D		G	LYS/GLU	0,4406		0,0,2203	87.0	77.0	80.0		1294	5.1	1.0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATG4D	NM_032885.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	432/475	10663612	1,13005	2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663612G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1294G>A	19.37:g.10663612G>A	ENSP00000311318:p.Glu432Lys					ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K	p.E432K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1414	+			432					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1294G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232663	0.79688	0.0	1.16E-4	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.34521	1.04	0.80722	D	1	P;P	0.42827	0.566;0.791	B;B	0.31245	0.126;0.126	T	0.31364	-0.9946	9	0.30078	T	0.28	-9.1337	17.6263	0.88095	0.0:0.0:1.0:0.0	.	369;432	B4DGM8;Q86TL0	.;ATG4D_HUMAN	K	432;99	.	ENSP00000311318:E432K	E	+	1	0	ATG4D	10524612	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	8.392000	0.90180	2.539000	0.85634	0.591000	0.81541	GAG		PASS	0.662	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		12	169	12	169	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10664823	10664823	+	IGR	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:10664823G>A	ENST00000309469.4	+	0	1949				KRI1_ENST00000361821.5_Missense_Mutation_p.S641L|MIR1238_ENST00000408483.1_RNA|KRI1_ENST00000312962.6_Missense_Mutation_p.S645L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.S645L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTTGTGGGGTGATACAGGGGC	0.647																																						uc002moy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1933-1935)TCA>TTA		KRI1 homolog							51.0	58.0	56.0					19																	10664823		2203	4299	6502	SO:0001628	intergenic_variant	65095							g.chr19:10664823G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10664823G>A						KRI1_uc002mow.1_Missense_Mutation_p.S264L|KRI1_uc002mox.1_Missense_Mutation_p.S641L	p.S645L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		19	1943	-			645					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1934C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371056	0.24771	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.08634	3.24;3.07	3.87	1.72	0.24424	.	1.656210	0.03596	N	0.232616	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37526	-0.9702	10	0.29301	T	0.29	0.001	7.5277	0.27664	0.296:0.0:0.704:0.0	.	645;641	Q8N9T8;D3YTE0	KRI1_HUMAN;.	L	645;641	ENSP00000320917:S645L;ENSP00000355366:S641L	ENSP00000320917:S645L	S	-	2	0	KRI1	10525823	0.013000	0.17824	0.000000	0.03702	0.066000	0.16364	1.920000	0.40025	0.427000	0.26145	-0.254000	0.11334	TCA		PASS	0.647	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		24	203	24	203	---	---	---	---
ZNF441	126068	broad.mit.edu	37	19	11891126	11891126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:11891126C>T	ENST00000357901.4	+	4	589	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.Q96*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	163					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.Q163*(1)|p.Q96*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAAAGACCTCAGCATGGAAA	0.423																																						uc010dyj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(487-489)CAG>TAG		zinc finger protein 441							112.0	102.0	105.0					19																	11891126		2203	4300	6503	SO:0001587	stop_gained	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891126C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.487C>T	19.37:g.11891126C>T	ENSP00000350576:p.Gln163*					ZNF441_uc002msn.3_Nonsense_Mutation_p.Q119*	p.Q163*	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN			4	681	+			163						Nonsense_Mutation	SNP	ENST00000357901.4	37	c.487C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	c	16.54	3.152541	0.57259	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.04	-0.192	0.13248	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9388	0.19181	0.3067:0.6933:0.0:0.0	.	.	.	.	X	119;163;96	.	ENSP00000350576:Q163X	Q	+	1	0	ZNF441	11752126	0.052000	0.20516	0.000000	0.03702	0.004000	0.04260	3.174000	0.50847	-0.022000	0.13986	0.305000	0.20034	CAG		PASS	0.423	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		13	124	13	124	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461659	12461659	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:12461659G>C	ENST00000242804.4	-	6	1322	c.740C>G	c.(739-741)cCt>cGt	p.P247R	ZNF442_ENST00000438182.1_Missense_Mutation_p.P178R|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	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)	p.P247R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ACTGTAAATAGGGAAGGCTTT	0.408																																						uc002mtr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|breast(1)|kidney(1)	4						c.(739-741)CCT>CGT		zinc finger protein 442							164.0	165.0	165.0					19																	12461659		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461659G>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.740C>G	19.37:g.12461659G>C	ENSP00000242804:p.Pro247Arg					ZNF442_uc010xmk.1_Missense_Mutation_p.P178R	p.P247R	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN			6	1351	-			247			C2H2-type 3.		B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.740C>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.402021	0.01165	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.14144	2.53;2.53	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.02315	-0.6	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.40831	-0.9542	9	0.20519	T	0.43	.	5.0246	0.14378	0.0:0.4253:0.3888:0.1859	.	247	Q9H7R0	ZN442_HUMAN	R	247;178	ENSP00000242804:P247R;ENSP00000388634:P178R	ENSP00000242804:P247R	P	-	2	0	ZNF442	12322659	.	.	0.000000	0.03702	0.335000	0.28730	.	.	-1.607000	0.01589	-0.656000	0.03901	CCT		PASS	0.408	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		23	286	23	286	---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13035011	13035011	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:13035011G>A	ENST00000314606.4	-	12	1360	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F	FARSA_ENST00000423140.2_Missense_Mutation_p.L417F|FARSA_ENST00000588025.1_Missense_Mutation_p.L488F	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	448					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.L448F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TTCTCGGGAAGCCCCATGGGC	0.607																																						uc002mvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)CTT>TTT		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						83.0	86.0	85.0					19																	13035011		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035011G>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.1342C>T	19.37:g.13035011G>A	ENSP00000320309:p.Leu448Phe					FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.L417F|FARSA_uc010dyy.1_Missense_Mutation_p.L369F	p.L448F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			12	1390	-			448					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.1342C>T	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277371	0.80580	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.66099	-0.19;-0.19	5.1	5.1	0.69264	Aminoacyl-tRNA synthetase, class II (1);Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.71036	2.16	0.80722	D	1	D;P;P	0.67145	0.996;0.946;0.946	D;P;P	0.70716	0.97;0.795;0.795	T	0.77143	-0.2696	10	0.56958	D	0.05	-0.2477	11.5734	0.50848	0.0869:0.0:0.9131:0.0	.	417;448;448	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	F	448;417	ENSP00000320309:L448F;ENSP00000396548:L417F	ENSP00000320309:L448F	L	-	1	0	FARSA	12896011	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.371000	0.79600	2.376000	0.81061	0.655000	0.94253	CTT		PASS	0.607	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		10	170	10	170	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15350616	15350616	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:15350616G>A	ENST00000263377.2	-	16	3520	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1100	C-terminal (CTD) region.				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)	p.S1100F(1)		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)			CTGGACCACGGAGGCAGCACG	0.706			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3298-3300)TCC>TTC		bromodomain-containing protein 4 isoform long							45.0	48.0	47.0					19																	15350616		2203	4300	6503	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.chr19:15350616G>A	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.3299C>T	19.37:g.15350616G>A	ENSP00000263377:p.Ser1100Phe						p.S1100F	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		16	3521	-			1100					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3299C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	8.487	0.861240	0.17178	.	.	ENSG00000141867	ENST00000263377	T	0.33216	1.42	4.62	3.58	0.41010	.	0.149741	0.31347	N	0.007809	T	0.25644	0.0624	L	0.40543	1.245	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.05451	-1.0884	10	0.54805	T	0.06	-7.8185	11.3973	0.49849	0.0909:0.0:0.9091:0.0	.	1100	O60885	BRD4_HUMAN	F	1100	ENSP00000263377:S1100F	ENSP00000263377:S1100F	S	-	2	0	BRD4	15211616	1.000000	0.71417	0.029000	0.17559	0.358000	0.29455	8.751000	0.91628	0.913000	0.36797	0.561000	0.74099	TCC		PASS	0.706	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		10	76	10	76	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	16008360	16008360	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:16008360A>G	ENST00000221700.6	-	2	157	c.62T>C	c.(61-63)cTc>cCc	p.L21P	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.L21P(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						CAGCAGGAGGAGCAGCCAAGG	0.662																																						uc002nbs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(61-63)CTC>CCC		cytochrome P450, family 4, subfamily F,							40.0	43.0	42.0					19																	16008360		2203	4300	6503	SO:0001583	missense	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.chr19:16008360A>G	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.62T>C	19.37:g.16008360A>G	ENSP00000221700:p.Leu21Pro					CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	p.L21P	NM_001082	NP_001073	P78329	CP4F2_HUMAN			2	112	-			21						Missense_Mutation	SNP	ENST00000221700.6	37	c.62T>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	13.41	2.228385	0.39399	.	.	ENSG00000186115	ENST00000221700	D	0.91996	-2.95	2.99	1.96	0.26148	.	0.421304	0.16513	U	0.211170	D	0.93377	0.7888	M	0.69823	2.125	0.28469	N	0.915522	D	0.71674	0.998	D	0.65233	0.933	D	0.86002	0.1495	10	0.66056	D	0.02	.	4.2862	0.10857	0.8363:0.0:0.1637:0.0	.	21	P78329	CP4F2_HUMAN	P	21	ENSP00000221700:L21P	ENSP00000221700:L21P	L	-	2	0	CYP4F2	15869360	0.001000	0.12720	0.112000	0.21494	0.070000	0.16714	1.300000	0.33436	1.353000	0.45828	0.392000	0.25879	CTC		PASS	0.662	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		13	27	13	27	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16339738	16339738	+	Splice_Site	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:16339738C>T	ENST00000291439.3	+	9	1495	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	AP1M1_ENST00000541844.1_Splice_Site_p.P277L|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000444449.2_Splice_Site_p.P361L|AP1M1_ENST00000590756.1_Splice_Site_p.P277L	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	349	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|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)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.P349L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						AAGTCCTTCCCGGTGAGCACT	0.617																																						uc002ndu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1045-1047)CCG>CTG		adaptor-related protein complex 1, mu 1 subunit							195.0	115.0	142.0					19																	16339738		2203	4300	6503	SO:0001630	splice_region_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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	g.chr19:16339738C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1047+1C>T	19.37:g.16339738C>T						AP1M1_uc002ndv.2_Missense_Mutation_p.P361L|AP1M1_uc010xpd.1_Intron	p.P349L	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			9	1219	+			349			MHD.		Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.1046C>T	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624724	0.87560	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844	T;T;T	0.21361	2.01;2.01;2.01	3.64	3.64	0.41730	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.957	T	0.61662	-0.7017	10	0.72032	D	0.01	-44.7837	14.4911	0.67651	0.0:1.0:0.0:0.0	.	361;349	Q4TTY5;Q9BXS5	.;AP1M1_HUMAN	L	361;349;277	ENSP00000388996:P361L;ENSP00000291439:P349L;ENSP00000445682:P277L	ENSP00000291439:P349L	P	+	2	0	AP1M1	16200738	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.453000	0.80700	1.871000	0.54225	0.561000	0.74099	CCG		PASS	0.617	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	Missense_Mutation	9	53	9	53	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17476334	17476334	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:17476334C>A	ENST00000252590.4	-	3	1001	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	314					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.G314C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCGCAGGCCCTGCTGGGCT	0.667																																						uc002ngk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(940-942)GGC>TGC		plasmalemma vesicle associated protein							35.0	32.0	33.0					19																	17476334		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476334C>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.940G>T	19.37:g.17476334C>A	ENSP00000252590:p.Gly314Cys						p.G314C	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	990	-			314			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.940G>T	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315416	0.40996	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.42	-6.64	0.01801	.	1.570770	0.03138	N	0.166179	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	1	D	0.53885	0.963	P	0.54499	0.754	T	0.48843	-0.8999	9	0.56958	D	0.05	-5.019	8.447	0.32847	0.0:0.2748:0.1188:0.6063	.	314	Q9BX97	PLVAP_HUMAN	C	314	.	ENSP00000252590:G314C	G	-	1	0	PLVAP	17337334	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-1.410000	0.02480	-0.834000	0.04239	0.462000	0.41574	GGC		PASS	0.667	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		28	58	28	58	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17643149	17643149	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:17643149C>T	ENST00000335393.4	+	4	495	c.357C>T	c.(355-357)ttC>ttT	p.F119F	FAM129C_ENST00000300971.2_Silent_p.F119F|FAM129C_ENST00000599124.1_Silent_p.F88F|FAM129C_ENST00000601861.1_Silent_p.F88F|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000332386.5_Silent_p.F119F|FAM129C_ENST00000600871.1_Silent_p.F65F|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000595684.1_Silent_p.F119F|FAM129C_ENST00000599164.1_Silent_p.F88F|FAM129C_ENST00000352727.3_Silent_p.F119F	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	119								p.F119F(2)		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						AGCCGATCTTCTGTGTTCTGC	0.652																																						uc010xpr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(355-357)TTC>TTT		B-cell novel protein 1 isoform a							79.0	78.0	79.0					19																	17643149		2203	4300	6503	SO:0001819	synonymous_variant	199786							g.chr19:17643149C>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.357C>T	19.37:g.17643149C>T						FAM129C_uc010xpq.1_Silent_p.F119F|FAM129C_uc010xps.1_Silent_p.F88F|FAM129C_uc010xpt.1_RNA	p.F119F	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			4	495	+			119					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	c.357C>T	CCDS12362.1																																																																																				PASS	0.652	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		18	148	18	148	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17653073	17653073	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		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						TGCAGAGCCTCGTGTTTGGGG	0.627																																						uc010xpr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1390-1392)CTC>CTT		B-cell novel protein 1 isoform a							108.0	108.0	108.0					19																	17653073		2203	4300	6503	SO:0001819	synonymous_variant	199786							g.chr19:17653073C>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.1392C>T	19.37:g.17653073C>T						FAM129C_uc010xpq.1_Silent_p.L464L|FAM129C_uc002ngy.3_Silent_p.L190L|FAM129C_uc010xpu.1_Silent_p.L190L|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.L190L|FAM129C_uc002nhb.2_Silent_p.L63L	p.L464L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			11	1530	+			464					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	c.1392C>T	CCDS12362.1																																																																																				PASS	0.627	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		28	218	28	218	---	---	---	---
JUND	3727	broad.mit.edu	37	19	18391933	18391933	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:18391933G>A	ENST00000252818.3	-	1	499	c.362C>T	c.(361-363)tCa>tTa	p.S121L	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	121					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S77L(1)		lung(2)|prostate(1)	3						GAGGAACTGTGAGCTCGTCGG	0.657																																						uc002nip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)TCA>TTA		jun D proto-oncogene							16.0	17.0	16.0					19																	18391933		2200	4292	6492	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391933G>A		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.362C>T	19.37:g.18391933G>A	ENSP00000252818:p.Ser121Leu					hsa-mir-3188|MI0014232_5'Flank	p.S121L	NM_005354	NP_005345	P17535	JUND_HUMAN			1	500	-			121					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.362C>T	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	13.75	2.329483	0.41197	.	.	ENSG00000130522	ENST00000252818	T	0.32272	1.46	3.06	0.579	0.17397	Jun-like transcription factor (1);	0.322407	0.23784	U	0.044585	T	0.23532	0.0569	L	0.52905	1.665	0.25129	N	0.990585	B	0.14805	0.011	B	0.15484	0.013	T	0.17501	-1.0367	10	0.52906	T	0.07	.	4.8219	0.13394	0.1374:0.3565:0.5061:0.0	.	121	P17535	JUND_HUMAN	L	121	ENSP00000252818:S121L	ENSP00000252818:S121L	S	-	2	0	JUND	18252933	1.000000	0.71417	0.853000	0.33588	0.745000	0.42441	3.351000	0.52232	0.633000	0.30452	0.537000	0.68136	TCA		PASS	0.657	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		7	18	7	18	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18964156	18964156	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:18964156G>C	ENST00000599848.1	+	8	1395	c.1186G>C	c.(1186-1188)Gat>Cat	p.D396H	UPF1_ENST00000262803.5_Missense_Mutation_p.D385H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	396	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.D385H(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						CAAGGTCCCTGATAGTATCCT	0.587																																						uc002nkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1186-1188)GAT>CAT		regulator of nonsense transcripts 1							54.0	48.0	50.0					19																	18964156		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|protein binding|RNA binding|zinc ion binding	g.chr19:18964156G>C	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.1186G>C	19.37:g.18964156G>C	ENSP00000470142:p.Asp396His					UPF1_uc002nkf.2_Missense_Mutation_p.D385H	p.D396H	NM_002911	NP_002902	Q92900	RENT1_HUMAN			8	1461	+			396			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.1186G>C		.	.	.	.	.	.	.	.	.	.	G	19.61	3.860712	0.71834	.	.	ENSG00000005007	ENST00000262803	D	0.90197	-2.63	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.94473	0.8221	M	0.86178	2.8	0.80722	D	1	B;D	0.53619	0.209;0.961	B;P	0.54238	0.057;0.746	D	0.95369	0.8462	10	0.87932	D	0	-29.3157	17.556	0.87889	0.0:0.0:1.0:0.0	.	396;385	Q92900;Q92900-2	RENT1_HUMAN;.	H	385	ENSP00000262803:D385H	ENSP00000262803:D385H	D	+	1	0	UPF1	18825156	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.374000	0.97172	2.479000	0.83701	0.596000	0.82720	GAT		PASS	0.587	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		9	50	9	50	---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19043761	19043761	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:19043761C>T	ENST00000539827.1	-	5	1157	c.505G>A	c.(505-507)Gag>Aag	p.E169K	HOMER3_ENST00000355887.6_Missense_Mutation_p.E169K|HOMER3_ENST00000594439.1_Missense_Mutation_p.E133K|HOMER3_ENST00000392351.3_Missense_Mutation_p.E169K|AC002985.3_ENST00000596918.1_Silent_p.A63A|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Missense_Mutation_p.E169K|HOMER3_ENST00000221222.11_Missense_Mutation_p.E169K|HOMER3_ENST00000542541.2_Missense_Mutation_p.E169K			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	169					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.E169K(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TTTAGCCGCTCGCGCTCTGTG	0.687																																						uc002nku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(505-507)GAG>AAG		Homer, neuronal immediate early gene, 3 isoform							21.0	26.0	24.0					19																	19043761		2198	4289	6487	SO:0001583	missense	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19043761C>T	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.505G>A	19.37:g.19043761C>T	ENSP00000439937:p.Glu169Lys					HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.E133K|HOMER3_uc010ebz.2_Missense_Mutation_p.E169K|HOMER3_uc002nkw.2_Missense_Mutation_p.E169K|HOMER3_uc002nkv.2_Missense_Mutation_p.E169K	p.E169K	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		5	1158	-			169					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	ENST00000539827.1	37	c.505G>A	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660728	0.96734	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000355887	T;T;T;T;T	0.15603	2.41;2.42;2.41;2.41;2.42	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.974;0.942	T	0.45789	-0.9237	10	0.59425	D	0.04	.	17.0668	0.86561	0.0:1.0:0.0:0.0	.	133;169;169	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	K	169;169;169;133;169;169	ENSP00000376162:E169K;ENSP00000396154:E169K;ENSP00000446026:E169K;ENSP00000439937:E169K;ENSP00000348150:E169K	ENSP00000221222:E133K	E	-	1	0	HOMER3	18904761	1.000000	0.71417	0.969000	0.41365	0.935000	0.57460	7.047000	0.76599	2.275000	0.75901	0.561000	0.74099	GAG		PASS	0.687	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			11	53	11	53	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21131580	21131580	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:21131580G>C	ENST00000328178.8	+	4	373	c.260G>C	c.(259-261)tGg>tCg	p.W87S	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000601023.1_Missense_Mutation_p.W28S|ZNF85_ENST00000345030.6_Missense_Mutation_p.W54S	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	87					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.W87S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAGACCTTTGGCCGGAGCAG	0.323																																						uc002npg.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(259-261)TGG>TCG		zinc finger protein 85							58.0	58.0	58.0					19																	21131580		2203	4299	6502	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131580G>C	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.260G>C	19.37:g.21131580G>C	ENSP00000329793:p.Trp87Ser					ZNF85_uc010ecn.2_Missense_Mutation_p.W22S|ZNF85_uc010eco.2_Missense_Mutation_p.W35S|ZNF85_uc002npi.2_Missense_Mutation_p.W28S	p.W87S	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	387	+			87					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.260G>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	0.192	-1.052475	0.01981	.	.	ENSG00000105750	ENST00000328178;ENST00000345030	T;T	0.05319	3.6;3.46	1.04	-2.09	0.07232	.	.	.	.	.	T	0.05044	0.0135	L	0.60904	1.88	0.09310	N	1	B;P;B	0.39480	0.065;0.675;0.047	B;B;B	0.36567	0.053;0.228;0.035	T	0.35649	-0.9780	9	0.14656	T	0.56	.	2.2232	0.03978	0.2323:0.0:0.2604:0.5072	.	54;28;87	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	S	87;54	ENSP00000329793:W87S;ENSP00000342340:W54S	ENSP00000329793:W87S	W	+	2	0	ZNF85	20923420	0.000000	0.05858	0.036000	0.18154	0.035000	0.12851	-2.184000	0.01254	-0.530000	0.06349	-0.538000	0.04264	TGG		PASS	0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		9	137	9	137	---	---	---	---
ZNF714	148206	broad.mit.edu	37	19	21299680	21299680	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:21299680G>A	ENST00000596143.1	+	5	535	c.210G>A	c.(208-210)gtG>gtA	p.V70V	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_Missense_Mutation_p.D77N	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	70					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.V70V(1)|p.V175V(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTCAACAAGTGATACTGAGAA	0.353																																						uc002npo.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(208-210)GTG>GTA		zinc finger protein 714							67.0	67.0	67.0					19																	21299680		2193	4299	6492	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299680G>A	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.210G>A	19.37:g.21299680G>A						ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.V22V|ZNF714_uc002npn.2_RNA	p.V70V	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			5	570	+			70					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.210G>A	CCDS54239.1																																																																																				PASS	0.353	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		8	77	8	77	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476864	21476864	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:21476864G>A	ENST00000356929.3	-	4	1101	c.904C>T	c.(904-906)Cat>Tat	p.H302Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	238					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.H302Y(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTCCAGTATGAATTTTCTTG	0.378																																						uc002npq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(904-906)CAT>TAT		zinc finger protein 708							51.0	54.0	53.0					19																	21476864		2203	4300	6503	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476864G>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.904C>T	19.37:g.21476864G>A	ENSP00000349401:p.His302Tyr					ZNF708_uc002npr.1_Missense_Mutation_p.H238Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H238Y	p.H302Y	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1102	-			302			C2H2-type 6.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.904C>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	12.35	1.912538	0.33721	.	.	ENSG00000182141	ENST00000356929	T	0.67523	-0.27	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81197	0.4772	M	0.92317	3.295	0.37042	D	0.897198	D	0.67145	0.996	P	0.61397	0.888	D	0.83972	0.0327	9	0.87932	D	0	.	8.9689	0.35894	0.0:0.0:1.0:0.0	.	302	P17019	ZN708_HUMAN	Y	302	ENSP00000349401:H302Y	ENSP00000349401:H302Y	H	-	1	0	ZNF708	21268704	1.000000	0.71417	0.353000	0.25747	0.327000	0.28475	4.954000	0.63631	0.482000	0.27582	0.485000	0.47835	CAT		PASS	0.378	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		7	100	7	100	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941883	22941883	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:22941883C>A	ENST00000596209.1	-	4	918	c.828G>T	c.(826-828)aaG>aaT	p.K276N	ZNF99_ENST00000397104.3_Splice_Site	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	276					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.?(1)		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)				TATGAATTATCTTATGTTTCA	0.338																																						uc010xrh.1																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e5-1		zinc finger protein 99							28.0	29.0	29.0					19																	22941883		2064	4222	6286	SO:0001583	missense	7652							g.chr19:22941883C>A	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.828G>T	19.37:g.22941883C>A	ENSP00000472969:p.Lys276Asn						p.I186_splice	NM_001080409	NP_001073878					5	556	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Splice_Site	SNP	ENST00000596209.1	37	c.556_splice	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	.	5.831	0.337571	0.11013	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.34	-0.0692	0.13752	.	.	.	.	.	.	.	.	M	0.69248	2.105	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4727	0.11720	0.2496:0.504:0.2464:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF99	22733723	0.016000	0.18221	0.001000	0.08648	0.090000	0.18270	0.265000	0.18515	-0.135000	0.11495	0.451000	0.29950	.		PASS	0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	45	14	45	---	---	---	---
CCNE1	898	broad.mit.edu	37	19	30308042	30308042	+	Splice_Site	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:30308042A>G	ENST00000262643.3	+	5	459		c.e5-1		CCNE1_ENST00000357943.5_Splice_Site|CCNE1_ENST00000444983.2_Splice_Site	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1						androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TTTCATTTACAGCCTTGGGAC	0.443			A		serous ovarian																																	uc002nsn.2				Dom	yes		19	19q12	898		cyclin E1			E					1	Unknown(1)		lung(1)	lung(2)	2						c.e5-2		cyclin E1 isoform 1							88.0	83.0	85.0					19																	30308042		2203	4300	6503	SO:0001630	splice_region_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30308042A>G	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.181-1A>G	19.37:g.30308042A>G						CCNE1_uc002nso.2_Splice_Site_p.P46_splice	p.P61_splice	NM_001238	NP_001229	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		5	364	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)							A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Splice_Site	SNP	ENST00000262643.3	37	c.181_splice	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057390	0.19907	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.30170	N	0.801412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2721	0.20961	0.7803:0.0:0.0771:0.1426	.	.	.	.	.	-1	.	.	.	+	.	.	CCNE1	34999882	0.327000	0.24678	0.564000	0.28396	0.027000	0.11550	3.192000	0.50989	2.324000	0.78689	0.533000	0.62120	.		PASS	0.443	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	Intron	29	96	29	96	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934871	30934871	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:30934871C>A	ENST00000355537.3	+	2	549	c.402C>A	c.(400-402)ctC>ctA	p.L134L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	134					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.L134L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGCCCACTCTGCGGCAAGC	0.627																																						uc002nsu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(400-402)CTC>CTA		zinc finger protein 536							67.0	55.0	59.0					19																	30934871		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934871C>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.402C>A	19.37:g.30934871C>A						ZNF536_uc010edd.1_Silent_p.L134L	p.L134L	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	540	+	Esophageal squamous(110;0.0834)		134			C2H2-type 1.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.402C>A	CCDS32984.1																																																																																				PASS	0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	55	26	55	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31767814	31767814	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:31767814C>T	ENST00000240587.4	-	2	3212	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	962					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)	p.G962E(1)|p.G779E(1)		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)					GAACTTTGTTCCACCTGTCCT	0.532																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2884-2886)GGA>GAA		zinc finger protein 537							60.0	57.0	58.0					19																	31767814		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.chr19:31767814C>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.2885G>A	19.37:g.31767814C>T	ENSP00000240587:p.Gly962Glu						p.G962E	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2950	-	Esophageal squamous(110;0.226)		962					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2885G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439872	0.83885	.	.	ENSG00000121297	ENST00000240587	T	0.13538	2.58	5.84	5.84	0.93424	Homeobox (1);Homeodomain-like (1);	0.051950	0.85682	D	0.000000	T	0.32645	0.0836	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00819	-1.1553	10	0.66056	D	0.02	-9.4067	20.1434	0.98067	0.0:1.0:0.0:0.0	.	962	Q63HK5	TSH3_HUMAN	E	962	ENSP00000240587:G962E	ENSP00000240587:G962E	G	-	2	0	TSHZ3	36459654	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.760000	0.94817	0.591000	0.81541	GGA		PASS	0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		29	72	29	72	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768045	31768045	+	Nonsense_Mutation	SNP	G	G	T	rs369979777		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:31768045G>T	ENST00000240587.4	-	2	2981	c.2654C>A	c.(2653-2655)tCg>tAg	p.S885*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	885					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)	p.S885*(1)|p.S702*(1)		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)					GGCGGGCGTCGACTCCTCAGC	0.607																																						uc002nsy.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2653-2655)TCG>TAG		zinc finger protein 537							46.0	44.0	44.0					19																	31768045		2203	4300	6503	SO:0001587	stop_gained	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.chr19:31768045G>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.2654C>A	19.37:g.31768045G>T	ENSP00000240587:p.Ser885*						p.S885*	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2719	-	Esophageal squamous(110;0.226)		885					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.2654C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	41	8.557668	0.98861	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.09	4.05	0.47172	.	0.754568	0.12233	N	0.487242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.2816	5.7145	0.17952	0.0783:0.1445:0.6451:0.132	.	.	.	.	X	885	.	ENSP00000240587:S885X	S	-	2	0	TSHZ3	36459885	1.000000	0.71417	0.942000	0.38095	0.972000	0.66771	3.924000	0.56476	1.131000	0.42111	0.591000	0.81541	TCG		PASS	0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		16	56	16	56	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32844576	32844576	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:32844576C>G	ENST00000311921.4	+	2	1032	c.840C>G	c.(838-840)atC>atG	p.I280M	ZNF507_ENST00000355898.5_Missense_Mutation_p.I280M|ZNF507_ENST00000544431.1_Missense_Mutation_p.I280M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	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)	p.I280M(1)		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)					CCTATCCAATCTTTGAAAATG	0.473																																						uc002nte.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(838-840)ATC>ATG		zinc finger protein 507							86.0	91.0	89.0					19																	32844576		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844576C>G	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.840C>G	19.37:g.32844576C>G	ENSP00000312277:p.Ile280Met					ZNF507_uc002ntc.2_Missense_Mutation_p.I280M|ZNF507_uc010xrn.1_Missense_Mutation_p.I280M|ZNF507_uc002ntd.2_Missense_Mutation_p.I280M	p.I280M	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	1112	+	Esophageal squamous(110;0.162)		280					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.840C>G	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665676	0.47677	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.11063	3.12;3.12;2.81	5.91	-0.629	0.11533	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	M	0.65498	2.005	0.34660	D	0.722623	D;D	0.67145	0.977;0.996	P;D	0.65874	0.75;0.939	T	0.17349	-1.0372	10	0.51188	T	0.08	.	8.164	0.31215	0.4831:0.3898:0.0:0.1271	.	280;280	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	M	280	ENSP00000348162:I280M;ENSP00000312277:I280M;ENSP00000441549:I280M	ENSP00000312277:I280M	I	+	3	3	ZNF507	37536416	0.291000	0.24352	0.993000	0.49108	0.995000	0.86356	-0.485000	0.06520	0.100000	0.17581	0.655000	0.94253	ATC		PASS	0.473	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		18	196	18	196	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34890129	34890129	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:34890129C>A	ENST00000356487.5	+	15	1528	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	GPI_ENST00000415930.3_Missense_Mutation_p.F440L|GPI_ENST00000586425.1_Missense_Mutation_p.F429L|RP11-618P17.4_ENST00000606020.1_5'Flank	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	429					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)	p.F429F(1)|p.F429L(1)		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)					TGGCCAACTTCTTGGCCCAGA	0.587																																						uc002nvg.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|kidney(1)	2						c.(1285-1287)TTC>TTA		glucose phosphate isomerase							33.0	34.0	34.0					19																	34890129		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.chr19:34890129C>A	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.1287C>A	19.37:g.34890129C>A	ENSP00000348877:p.Phe429Leu					GPI_uc002nvf.2_Missense_Mutation_p.F468L|GPI_uc010xrv.1_Missense_Mutation_p.F440L|GPI_uc010xrw.1_Missense_Mutation_p.F401L|GPI_uc010edl.1_Missense_Mutation_p.F429L|GPI_uc002nvi.1_Missense_Mutation_p.F92L	p.F429L	NM_000175	NP_000166	P06744	G6PI_HUMAN			15	1390	+	Esophageal squamous(110;0.162)		429					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1287C>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412467	0.83340	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94046	-3.34;-3.34	6.08	2.71	0.32032	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;0.999	D;D;D;D	0.91635	0.973;0.999;0.973;0.974	D	0.95024	0.8163	10	0.87932	D	0	-11.4579	11.0289	0.47761	0.0:0.7922:0.0:0.2078	.	401;440;402;429	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	L	440;429	ENSP00000405573:F440L;ENSP00000348877:F429L	ENSP00000348877:F429L	F	+	3	2	GPI	39581969	1.000000	0.71417	0.966000	0.40874	0.844000	0.47949	1.593000	0.36686	0.402000	0.25451	0.655000	0.94253	TTC		PASS	0.587	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			5	40	5	40	---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35514178	35514178	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:35514178A>G	ENST00000317991.5	+	18	2084	c.1892A>G	c.(1891-1893)tAc>tGc	p.Y631C	GRAMD1A_ENST00000504615.2_Missense_Mutation_p.Y393C|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.Y620C|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.Y714C|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	631						integral component of membrane (GO:0016021)		p.Y631C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGCTCTTCTACCGCCTCTGG	0.612																																						uc010xse.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1891-1893)TAC>TGC		GRAM domain containing 1A isoform 1							268.0	278.0	275.0					19																	35514178		2024	4172	6196	SO:0001583	missense	57655					integral to membrane		g.chr19:35514178A>G	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1892A>G	19.37:g.35514178A>G	ENSP00000441032:p.Tyr631Cys					GRAMD1A_uc002nxk.2_Missense_Mutation_p.Y620C|GRAMD1A_uc002nxl.2_Missense_Mutation_p.Y393C|GRAMD1A_uc010xsf.1_Missense_Mutation_p.Y632C|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.Y242C	p.Y631C	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		18	2029	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		631					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.1892A>G	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863214	0.71949	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.54675	0.56;1.6;1.59	4.8	4.8	0.61643	.	0.075356	0.56097	D	0.000040	T	0.66237	0.2769	L	0.54323	1.7	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.995;0.999;0.998	T	0.67469	-0.5663	10	0.52906	T	0.07	.	12.3484	0.55134	1.0:0.0:0.0:0.0	.	627;631;393;620	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	C	713;393;631;620	ENSP00000423728:Y393C;ENSP00000441032:Y631C;ENSP00000439267:Y620C	ENSP00000441032:Y631C	Y	+	2	0	GRAMD1A	40206018	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.532000	0.81985	2.017000	0.59298	0.477000	0.44152	TAC		PASS	0.612	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		154	188	154	188	---	---	---	---
CD22	933	broad.mit.edu	37	19	35832500	35832500	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:35832500G>A	ENST00000085219.5	+	8	1828	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	CD22_ENST00000419549.2_Missense_Mutation_p.E416K|CD22_ENST00000544992.2_Missense_Mutation_p.E588K|CD22_ENST00000270311.6_Missense_Mutation_p.E468K|CD22_ENST00000594250.1_Missense_Mutation_p.E411K|CD22_ENST00000341773.6_Missense_Mutation_p.E411K|CD22_ENST00000536635.2_Missense_Mutation_p.E500K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	588					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.E588K(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGGACACTTGAAGTGCTGTG	0.597																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1762-1764)GAA>AAA		CD22 molecule precursor	OspA lipoprotein(DB00045)						70.0	68.0	69.0					19																	35832500		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35832500G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1762G>A	19.37:g.35832500G>A	ENSP00000085219:p.Glu588Lys					CD22_uc010xst.1_Missense_Mutation_p.E416K|CD22_uc010edu.2_Missense_Mutation_p.E500K|CD22_uc010edv.2_Missense_Mutation_p.E588K|CD22_uc002nzb.3_Missense_Mutation_p.E411K|CD22_uc010edx.2_RNA	p.E588K	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1839	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		588			Extracellular (Potential).		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1762G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	3.446	-0.113012	0.06881	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.21	-2.8	0.05823	Immunoglobulin-like fold (1);	1.296590	0.05074	N	0.482165	T	0.05410	0.0143	N	0.13352	0.335	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.001;0.006;0.0;0.001	T	0.32903	-0.9889	10	0.06099	T	0.92	.	1.0265	0.01529	0.288:0.2797:0.2653:0.167	.	416;588;500;588;411	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	K	588;500;411;588;468;416	ENSP00000085219:E588K;ENSP00000442279:E500K;ENSP00000339349:E411K;ENSP00000441237:E588K;ENSP00000270311:E468K;ENSP00000403822:E416K	ENSP00000085219:E588K	E	+	1	0	CD22	40524340	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.200000	0.17257	-0.113000	0.11958	-1.205000	0.01647	GAA		PASS	0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		27	61	27	61	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38689091	38689091	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:38689091G>T	ENST00000222345.6	+	19	5412	c.4903G>T	c.(4903-4905)Gac>Tac	p.D1635Y	RN7SL663P_ENST00000578592.1_RNA|CTB-102L5.8_ENST00000598146.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1635					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.D1635Y(1)		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)			GCGGCGCCTGGACCCTGGGCT	0.672																																						uc002ohk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4903-4905)GAC>TAC		signal-induced proliferation-associated 1 like							74.0	84.0	80.0					19																	38689091		2203	4292	6495	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38689091G>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.4903G>T	19.37:g.38689091G>T	ENSP00000222345:p.Asp1635Tyr						p.D1635Y	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		19	5412	+			1635					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4903G>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089646	0.94149	.	.	ENSG00000105738	ENST00000222345	T	0.39997	1.05	5.58	5.58	0.84498	.	0.053568	0.64402	D	0.000001	T	0.65637	0.2710	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.68032	-0.5516	10	0.87932	D	0	-48.0448	18.3375	0.90294	0.0:0.0:1.0:0.0	.	1635	O60292	SI1L3_HUMAN	Y	1635	ENSP00000222345:D1635Y	ENSP00000222345:D1635Y	D	+	1	0	SIPA1L3	43380931	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	9.214000	0.95140	2.625000	0.88918	0.650000	0.86243	GAC		PASS	0.672	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	145	26	145	---	---	---	---
YIF1B	90522	broad.mit.edu	37	19	38799948	38799948	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:38799948G>A	ENST00000339413.6	-	3	363	c.318C>T	c.(316-318)atC>atT	p.I106I	YIF1B_ENST00000392124.3_Silent_p.I75I|YIF1B_ENST00000591784.1_Silent_p.I75I|YIF1B_ENST00000592694.1_Silent_p.I75I|YIF1B_ENST00000337679.8_Silent_p.I103I|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592246.1_Intron|YIF1B_ENST00000329420.8_Silent_p.I91I|YIF1B_ENST00000591755.1_Silent_p.I103I	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	106						integral component of membrane (GO:0016021)		p.I75I(1)|p.I106I(1)|p.I103I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAGCTTGGTGATGGGGATGA	0.607																																						uc002ohz.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(316-318)ATC>ATT		Yip1 interacting factor homolog B isoform 5							158.0	153.0	155.0					19																	38799948		2203	4300	6503	SO:0001819	synonymous_variant	90522					integral to membrane		g.chr19:38799948G>A	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.318C>T	19.37:g.38799948G>A						YIF1B_uc002ohw.2_Silent_p.I75I|YIF1B_uc002ohx.2_Silent_p.I91I|YIF1B_uc010xtx.1_Silent_p.I89I|YIF1B_uc010xty.1_Silent_p.I75I|YIF1B_uc002oia.2_Silent_p.I103I|YIF1B_uc002ohy.2_Silent_p.I103I|YIF1B_uc002oib.2_Silent_p.I103I	p.I106I	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	367	-	all_cancers(60;1.07e-06)		106			Cytoplasmic (Potential).		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Silent	SNP	ENST00000339413.6	37	c.318C>T	CCDS33010.1																																																																																				PASS	0.607	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		35	142	35	142	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42490037	42490037	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:42490037G>T	ENST00000302102.5	-	6	735	c.585C>A	c.(583-585)atC>atA	p.I195I	ATP1A3_ENST00000602133.1_Silent_p.I165I|ATP1A3_ENST00000543770.1_Silent_p.I206I|ATP1A3_ENST00000545399.1_Silent_p.I208I|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	195					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.I195I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGCTGAGATGATCCGCAGGT	0.667																																						uc002osg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(583-585)ATC>ATA		Na+/K+ -ATPase alpha 3 subunit							118.0	108.0	111.0					19																	42490037		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490037G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.585C>A	19.37:g.42490037G>T						ATP1A3_uc010xwf.1_Silent_p.I206I|ATP1A3_uc010xwg.1_Silent_p.I165I|ATP1A3_uc010xwh.1_Silent_p.I208I|ATP1A3_uc002osh.2_Silent_p.I195I	p.I195I	NM_152296	NP_689509	P13637	AT1A3_HUMAN			6	739	-			195			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.585C>A	CCDS12594.1																																																																																				PASS	0.667	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		37	155	37	155	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794394	42794394	+	Missense_Mutation	SNP	C	C	T	rs373584239		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:42794394C>T	ENST00000575354.2	+	10	1514	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	CIC_ENST00000572681.2_Missense_Mutation_p.R1401W|CIC_ENST00000160740.3_Missense_Mutation_p.R492W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	492			R -> W (de novo variant found in a patient with mental retardation). {ECO:0000269|PubMed:21076407}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R492W(1)		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)				GGGCTTTGGTCGGAAGGTGTT	0.627			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1				Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(1474-1476)CGG>TGG		capicua homolog							104.0	100.0	101.0					19																	42794394		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794394C>T	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.1474C>T	19.37:g.42794394C>T	ENSP00000458663:p.Arg492Trp						p.R492W	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			10	1514	+		Prostate(69;0.00682)	492		R -> W (de novo variant found in a patient with mental retardation).			Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.1474C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380559	0.42207	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.67	3.56	0.40772	.	.	.	.	.	T	0.44953	0.1318	N	0.08118	0	0.36678	D	0.878866	D	0.89917	1.0	D	0.75020	0.985	T	0.55140	-0.8187	8	0.87932	D	0	-11.9932	9.5814	0.39490	0.2089:0.7911:0.0:0.0	.	492	Q96RK0	CIC_HUMAN	W	492	.	ENSP00000160740:R492W	R	+	1	2	CIC	47486234	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	1.408000	0.34668	2.606000	0.88127	0.561000	0.74099	CGG		PASS	0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			12	213	12	213	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46811549	46811549	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:46811549G>C	ENST00000377670.4	+	4	466	c.435G>C	c.(433-435)ctG>ctC	p.L145L	HIF3A_ENST00000600383.1_Silent_p.L76L|HIF3A_ENST00000525854.1_3'UTR|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L143L|HIF3A_ENST00000472815.1_Silent_p.L76L|HIF3A_ENST00000244303.6_Silent_p.L76L|HIF3A_ENST00000420102.2_Silent_p.L94L|HIF3A_ENST00000339613.2_Silent_p.L89L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	145	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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.L143L(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)		AGGACGCCCTGACCCCCCAGC	0.602																																						uc002peh.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(433-435)CTG>CTC		hypoxia inducible factor 3, alpha subunit							111.0	101.0	104.0					19																	46811549		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811549G>C	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.435G>C	19.37:g.46811549G>C						HIF3A_uc002pef.1_Silent_p.L145L|HIF3A_uc002peg.3_Silent_p.L145L|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.L89L|HIF3A_uc002pej.1_Silent_p.L76L|HIF3A_uc002pek.2_Silent_p.L89L|HIF3A_uc010xxy.1_Silent_p.L76L|HIF3A_uc002pel.2_Silent_p.L143L|HIF3A_uc010xxz.1_Silent_p.L94L	p.L145L	NM_152795	NP_690008	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)	4	464	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	145			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.435G>C	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737866	0.15574	.	.	ENSG00000124440	ENST00000472815	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	T	0.56978	0.2022	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54173	-0.8333	4	.	.	.	.	7.5032	0.27530	0.1181:0.0:0.8819:0.0	.	.	.	.	H	118	.	.	D	+	1	0	HIF3A	51503389	0.992000	0.36948	1.000000	0.80357	0.941000	0.58515	0.502000	0.22594	2.163000	0.67991	0.561000	0.74099	GAC		PASS	0.602	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			21	150	21	150	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47197343	47197343	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:47197343G>A	ENST00000291281.4	-	10	1590	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PRKD2_ENST00000433867.1_Silent_p.F455F|PRKD2_ENST00000595515.1_Silent_p.F455F|PRKD2_ENST00000600194.1_Silent_p.F298F|PRKD2_ENST00000601806.1_Silent_p.F298F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	455	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.F455F(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCACAAGGCTGAAGTTCTGGG	0.607																																						uc002pfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1363-1365)TTC>TTT		protein kinase D2 isoform A							59.0	50.0	53.0					19																	47197343		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.chr19:47197343G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1365C>T	19.37:g.47197343G>A						PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Silent_p.F298F|PRKD2_uc002pfi.2_Silent_p.F455F|PRKD2_uc002pfj.2_Silent_p.F455F|PRKD2_uc010xye.1_Silent_p.F455F|PRKD2_uc002pfk.2_Silent_p.F298F	p.F455F	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	1707	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	455			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1365C>T	CCDS12689.1																																																																																				PASS	0.607	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		10	96	10	96	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422077	47422077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:47422077G>T	ENST00000404338.3	+	1	145	c.145G>T	c.(145-147)Gag>Tag	p.E49*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	49					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.E49*(2)									GAGTGCTGACGAGTTTCACTT	0.537																																						uc010ekv.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(145-147)GAG>TAG		glucocorticoid receptor DNA binding factor 1							103.0	110.0	108.0					19																	47422077		2017	4185	6202	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422077G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.145G>T	19.37:g.47422077G>T	ENSP00000385720:p.Glu49*						p.E49*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	145	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	49					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.145G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722513	0.96847	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.93	5.93	0.95920	.	0.100690	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-36.795	19.1077	0.93303	0.0:0.0:1.0:0.0	.	.	.	.	X	49	.	ENSP00000324820:E49X	E	+	1	0	ARHGAP35	52113917	1.000000	0.71417	0.987000	0.45799	0.946000	0.59487	8.003000	0.88520	2.814000	0.96858	0.563000	0.77884	GAG		PASS	0.537	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		39	107	39	107	---	---	---	---
CRX	1406	broad.mit.edu	37	19	48342941	48342941	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:48342941C>T	ENST00000221996.7	+	4	823	c.617C>T	c.(616-618)tCc>tTc	p.S206F	CRX_ENST00000539067.1_Missense_Mutation_p.S206F|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	206					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)	p.S206F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCTTCCCCCTCCGCCTATGGG	0.682																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(616-618)TCC>TTC		cone-rod homeobox protein							75.0	81.0	79.0					19																	48342941		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342941C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.617C>T	19.37:g.48342941C>T	ENSP00000221996:p.Ser206Phe						p.S206F	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	821	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	206					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.617C>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189591	0.38707	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90261	-2.64;-2.64	3.93	1.77	0.24775	Transcription factor Otx, C-terminal (1);	0.219310	0.29646	N	0.011573	D	0.83022	0.5164	L	0.36672	1.1	0.19300	N	0.999979	B	0.24258	0.1	B	0.27887	0.084	T	0.72191	-0.4365	10	0.49607	T	0.09	-2.6384	4.4937	0.11826	0.2194:0.6638:0.0:0.1168	.	206	O43186	CRX_HUMAN	F	206	ENSP00000221996:S206F;ENSP00000445565:S206F	ENSP00000221996:S206F	S	+	2	0	CRX	53034753	0.164000	0.22935	0.003000	0.11579	0.539000	0.34962	0.649000	0.24843	0.326000	0.23384	0.467000	0.42956	TCC		PASS	0.682	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		45	168	45	168	---	---	---	---
CRX	1406	broad.mit.edu	37	19	48343180	48343180	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:48343180C>T	ENST00000221996.7	+	4	1062	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	CRX_ENST00000539067.1_Silent_p.L286L|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	286					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)	p.L286L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CATGGACCCTCTGGACTACAA	0.547																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(856-858)CTG>TTG		cone-rod homeobox protein							88.0	91.0	90.0					19																	48343180		2192	4253	6445	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343180C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.856C>T	19.37:g.48343180C>T							p.L286L	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	1060	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	286					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.856C>T	CCDS12706.1																																																																																				PASS	0.547	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		64	240	64	240	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49409111	49409111	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:49409111C>G	ENST00000405315.4	+	4	679	c.345C>G	c.(343-345)ctC>ctG	p.L115L	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.L115L|NUCB1_ENST00000407032.1_Silent_p.L115L	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	115						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)	p.L115L(1)		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)		GGATGCTGCTCAAGGCCAAGA	0.672																																						uc002plb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(343-345)CTC>CTG		nucleobindin 1 precursor							36.0	34.0	35.0					19																	49409111		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49409111C>G	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.345C>G	19.37:g.49409111C>G						NUCB1_uc002pla.2_Silent_p.L115L|NUCB1_uc002plc.2_Silent_p.L115L	p.L115L	NM_006184	NP_006175	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)	4	417	+		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)	115					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.345C>G	CCDS12740.1																																																																																				PASS	0.672	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		29	36	29	36	---	---	---	---
NTF4	4909	broad.mit.edu	37	19	49564991	49564991	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:49564991C>G	ENST00000593537.1	-	1	263	c.264G>C	c.(262-264)gcG>gcC	p.A88A	CGB7_ENST00000356213.4_5'Flank|CGB7_ENST00000597853.1_5'Flank|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000301411.3_Silent_p.A88A|NTF4_ENST00000451356.2_Intron|NTF4_ENST00000594938.1_5'Flank|CTB-60B18.12_ENST00000597865.1_RNA			P34130	NTF4_HUMAN	neurotrophin 4	88			A -> V. {ECO:0000269|PubMed:19765683, ECO:0000269|PubMed:20215012}.		adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.A88A(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-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)		CCCGACGACTCGCTGGTGCAG	0.692																																						uc002pmf.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)GCG>GCC		neurotrophin 5 preproprotein							15.0	14.0	14.0					19																	49564991		2170	4264	6434	SO:0001819	synonymous_variant	4909				adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity	g.chr19:49564991C>G		CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.264G>C	19.37:g.49564991C>G						CGB7_uc010yah.1_Intron	p.A88A	NM_006179	NP_006170	P34130	NTF4_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	405	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	88		A -> V.			Q6FH56	Silent	SNP	ENST00000593537.1	37	c.264G>C	CCDS12754.1																																																																																				PASS	0.692	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1	NM_006179		3	29	3	29	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49637089	49637089	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:49637089C>T	ENST00000334186.4	+	10	1547	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R400W	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	400					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.R400W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGCGGCTTCGGCAGCTGGA	0.627																																						uc002pmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1198-1200)CGG>TGG		PTPRF interacting protein alpha 3							33.0	34.0	34.0					19																	49637089		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49637089C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1198C>T	19.37:g.49637089C>T	ENSP00000335614:p.Arg400Trp					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.R324W|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.R268W	p.R400W	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	10	1530	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	400			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1198C>T	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254342	0.80135	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.37411	1.2	4.01	1.56	0.23342	.	0.000000	0.41500	U	0.000869	T	0.58018	0.2093	M	0.81682	2.555	0.53688	D	0.999978	D;P;D	0.89917	1.0;0.875;0.999	D;B;D	0.75484	0.986;0.302;0.937	T	0.63932	-0.6525	10	0.87932	D	0	-18.8257	11.6147	0.51083	0.3157:0.6843:0.0:0.0	.	324;400;400	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	W	400;324	ENSP00000335614:R400W	ENSP00000335614:R400W	R	+	1	2	PPFIA3	54328901	0.948000	0.32251	1.000000	0.80357	0.990000	0.78478	1.396000	0.34531	0.757000	0.33036	0.655000	0.94253	CGG		PASS	0.627	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		11	30	11	30	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50099552	50099552	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:50099552C>T	ENST00000418929.2	+	4	1972	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.R654W(1)		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)		CAGCCCTCCTCGGACCTCAGG	0.706																																						uc002poo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1960-1962)CGG>TGG		proline rich 12							13.0	17.0	16.0					19																	50099552		1892	4076	5968	SO:0001583	missense	57479						DNA binding	g.chr19:50099552C>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.1960C>T	19.37:g.50099552C>T	ENSP00000394510:p.Arg654Trp						p.R654W	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1960	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1960C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	7.762	0.705553	0.15172	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.91	0.3	0.15776	.	.	.	.	.	T	0.64886	0.2639	.	.	.	0.25509	N	0.987478	D	0.89917	1.0	D	0.80764	0.994	T	0.57974	-0.7718	7	0.72032	D	0.01	.	12.2828	0.54774	0.5669:0.433:0.0:0.0	.	654	Q9ULL5-3	.	W	654	.	ENSP00000394510:R654W	R	+	1	2	PRR12	54791364	0.094000	0.21725	0.367000	0.25926	0.919000	0.55068	0.105000	0.15333	0.069000	0.16605	0.297000	0.19635	CGG		PASS	0.706	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		8	21	8	21	---	---	---	---
AP2A1	160	broad.mit.edu	37	19	50306555	50306555	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:50306555C>T	ENST00000359032.5	+	19	2332	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F	AP2A1_ENST00000354293.5_Missense_Mutation_p.L756F	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	778					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)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|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)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.L778F(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCGCATGTATCTCTTCTATGG	0.602																																						uc002ppn.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2332-2334)CTC>TTC		adaptor-related protein complex 2, alpha 1							87.0	98.0	94.0					19																	50306555		2028	4191	6219	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|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|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50306555C>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.2332C>T	19.37:g.50306555C>T	ENSP00000351926:p.Leu778Phe					AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.L756F|AP2A1_uc002ppp.1_3'UTR|AP2A1_uc010enk.2_5'Flank	p.L778F	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	19	2543	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	778					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.2332C>T	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156897	0.78114	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.50548	0.74;0.74	5.34	5.34	0.76211	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);	0.067986	0.64402	D	0.000018	T	0.61123	0.2322	M	0.63428	1.95	0.53688	D	0.999975	P;P	0.52577	0.905;0.954	P;P	0.54706	0.499;0.759	T	0.62129	-0.6919	10	0.51188	T	0.08	-13.7274	17.8035	0.88595	0.0:1.0:0.0:0.0	.	756;778	O95782-2;O95782	.;AP2A1_HUMAN	F	756;778	ENSP00000346246:L756F;ENSP00000351926:L778F	ENSP00000346246:L756F	L	+	1	0	AP2A1	54998367	0.694000	0.27738	1.000000	0.80357	0.998000	0.95712	0.358000	0.20216	2.515000	0.84797	0.655000	0.94253	CTC		PASS	0.602	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			8	68	8	68	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53344268	53344268	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:53344268C>G	ENST00000595646.1	-	4	1399	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.E374Q|ZNF468_ENST00000396409.4_Missense_Mutation_p.E374Q			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	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)	p.E427Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTGTGTCTTTCCAGGTTTGAT	0.418																																						uc002qaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1279-1281)GAA>CAA		zinc finger protein ZNF468 isoform 2							94.0	96.0	96.0					19																	53344268		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344268C>G	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1279G>C	19.37:g.53344268C>G	ENSP00000470381:p.Glu427Gln					ZNF468_uc002qae.2_Missense_Mutation_p.E374Q	p.E427Q	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1430	-			427			C2H2-type 8.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1279G>C	CCDS33094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.391|8.391	0.839829|0.839829	0.16891|0.16891	.|.	.|.	ENSG00000204604|ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651|ENST00000393865	T;T|.	0.35789|.	1.29;1.29|.	1.89|1.89	-3.79|-3.79	0.04320|0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.02334|0.02334	-0.595|-0.595	0.09310|0.09310	N|N	1|1	P|.	0.35011|.	0.48|.	B|.	0.36030|.	0.216|.	T|T	0.24548|0.24548	-1.0157|-1.0157	9|6	0.59425|0.36615	D|T	0.04|0.2	.|.	4.4139|4.4139	0.11447|0.11447	0.0:0.3013:0.2432:0.4555|0.0:0.3013:0.2432:0.4555	.|.	427|.	Q5VIY5|.	ZN468_HUMAN|.	Q|A	427;374;374|175	ENSP00000379690:E374Q;ENSP00000445669:E374Q|.	ENSP00000243639:E427Q|ENSP00000377444:G175A	E|G	-|-	1|2	0|0	ZNF468|ZNF468	58036080|58036080	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.651000|-0.651000	0.05372|0.05372	-0.544000|-0.544000	0.06232|0.06232	0.416000|0.416000	0.27883|0.27883	GAA|GGA		PASS	0.418	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		32	200	32	200	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54677872	54677872	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:54677872T>G	ENST00000245615.1	-	8	1765	c.1285A>C	c.(1285-1287)Atc>Ctc	p.I429L	TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000376591.4_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.I356L|MBOAT7_ENST00000338624.6_Missense_Mutation_p.I356L|TMC4_ENST00000476013.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	429					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)	p.I429L(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGAAGTAGATGGAGGCCCAG	0.642																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1285-1287)ATC>CTC		membrane bound O-acyltransferase domain							90.0	82.0	84.0					19																	54677872		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677872T>G	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1285A>C	19.37:g.54677872T>G	ENSP00000245615:p.Ile429Leu					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.I113L|MBOAT7_uc010yem.1_Missense_Mutation_p.I411L|MBOAT7_uc002qdr.2_Missense_Mutation_p.I429L|MBOAT7_uc002qds.2_Missense_Mutation_p.I356L|MBOAT7_uc010yen.1_Missense_Mutation_p.I356L	p.I429L	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1551	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		429			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1285A>C	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.925062	0.52759	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.17054	2.3;2.3;2.31	4.79	-9.24	0.00669	.	0.529865	0.20649	N	0.088252	T	0.10937	0.0267	L	0.50333	1.59	0.42644	D	0.99342	B;B;B	0.29988	0.012;0.264;0.002	B;B;B	0.27170	0.013;0.077;0.001	T	0.08330	-1.0727	10	0.30854	T	0.27	-7.6573	11.1562	0.48489	0.0:0.544:0.0976:0.3584	.	411;356;429	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	L	356;356;429	ENSP00000410503:I356L;ENSP00000344377:I356L;ENSP00000245615:I429L	ENSP00000245615:I429L	I	-	1	0	MBOAT7	59369684	0.018000	0.18449	0.043000	0.18650	0.954000	0.61252	-1.038000	0.03553	-2.084000	0.00866	0.393000	0.25936	ATC		PASS	0.642	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		12	131	12	131	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56235397	56235397	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:56235397C>G	ENST00000332836.2	-	4	2135	c.2108G>C	c.(2107-2109)aGa>aCa	p.R703T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	703						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R703T(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACACAGGTGTCTGATGTCAGA	0.473																																						uc002qly.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(2107-2109)AGA>ACA		NLR family, pyrin domain containing 9							119.0	105.0	110.0					19																	56235397		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56235397C>G	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.2108G>C	19.37:g.56235397C>G	ENSP00000331857:p.Arg703Thr						p.R703T	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	4	2136	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	703					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2108G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036667	0.07497	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.13538	2.58	3.13	-6.27	0.02026	.	.	.	.	.	T	0.09818	0.0241	L	0.59436	1.845	0.09310	N	1	B	0.19935	0.04	B	0.19946	0.027	T	0.35943	-0.9768	9	0.17369	T	0.5	.	3.4277	0.07417	0.1181:0.1613:0.152:0.5686	.	703	Q7RTR0	NALP9_HUMAN	T	703	ENSP00000331857:R703T	ENSP00000331857:R703T	R	-	2	0	NLRP9	60927209	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.558000	0.02164	-2.272000	0.00682	-0.827000	0.03088	AGA		PASS	0.473	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		21	118	21	118	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640692	57640692	+	Missense_Mutation	SNP	G	G	C	rs35629721		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:57640692G>C	ENST00000254181.4	+	4	1103	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	USP29_ENST00000598197.1_Missense_Mutation_p.E217Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	217					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E217Q(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGGATTTAGAAAAAGATAG	0.368																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(649-651)GAA>CAA		ubiquitin specific peptidase 29							59.0	64.0	63.0					19																	57640692		2201	4300	6501	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640692G>C		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.649G>C	19.37:g.57640692G>C	ENSP00000254181:p.Glu217Gln						p.E217Q	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1005	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	217						Missense_Mutation	SNP	ENST00000254181.4	37	c.649G>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078009	0.20227	.	.	ENSG00000131864	ENST00000254181	T	0.54071	0.59	2.69	0.518	0.17030	.	0.252713	0.20729	U	0.086743	T	0.38401	0.1039	L	0.39898	1.24	0.09310	N	1	P	0.35844	0.524	B	0.34418	0.182	T	0.27971	-1.0058	10	0.66056	D	0.02	-0.0332	7.6705	0.28455	0.1941:0.0:0.8059:0.0	.	217	Q9HBJ7	UBP29_HUMAN	Q	217	ENSP00000254181:E217Q	ENSP00000254181:E217Q	E	+	1	0	USP29	62332504	0.007000	0.16637	0.002000	0.10522	0.017000	0.09413	0.389000	0.20751	0.193000	0.20303	0.591000	0.81541	GAA		PASS	0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			21	143	21	143	---	---	---	---
ZNF530	348327	broad.mit.edu	37	19	58118674	58118674	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:58118674G>T	ENST00000332854.6	+	3	2001	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	594					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.R594I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTAAGACACAGAAGAGTTCAT	0.408																																						uc002qpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1780-1782)AGA>ATA		zinc finger protein 530							67.0	66.0	66.0					19																	58118674		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118674G>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1781G>T	19.37:g.58118674G>T	ENSP00000332861:p.Arg594Ile					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.R594I	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	2001	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	594			C2H2-type 13.		O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1781G>T	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891269	0.17613	.	.	ENSG00000183647	ENST00000332854	T	0.06687	3.27	1.11	0.0268	0.14151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	L	0.35593	1.075	0.09310	N	0.999998	B	0.22003	0.063	B	0.18561	0.022	T	0.36915	-0.9728	9	0.87932	D	0	.	4.344	0.11124	0.6187:0.0:0.3813:0.0	.	594	Q6P9A1	ZN530_HUMAN	I	594	ENSP00000332861:R594I	ENSP00000332861:R594I	R	+	2	0	ZNF530	62810486	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-2.977000	0.00664	0.034000	0.15491	0.543000	0.68304	AGA		PASS	0.408	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		7	81	7	81	---	---	---	---
ZNF586	54807	broad.mit.edu	37	19	58288012	58288012	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:58288012G>C	ENST00000396154.2	+	2	311	c.138G>C	c.(136-138)gaG>gaC	p.E46D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.E3D|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	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)|metal ion binding (GO:0046872)	p.E46D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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;0.026)		TGATGCTGGAGACCTTGACAC	0.478																																						uc002qqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(136-138)GAG>GAC		zinc finger protein 586							294.0	288.0	290.0					19																	58288012		2202	4300	6502	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58288012G>C	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.138G>C	19.37:g.58288012G>C	ENSP00000379458:p.Glu46Asp					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Intron|ZNF586_uc010euh.2_Missense_Mutation_p.E3D|ZNF586_uc002qqf.1_Intron	p.E46D	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	324	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	46			KRAB.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.138G>C	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215336	0.58452	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.15834	2.39;3.76	1.89	1.89	0.25635	Krueppel-associated box (4);	.	.	.	.	T	0.35393	0.0930	M	0.90650	3.135	0.22479	N	0.999062	P	0.47545	0.897	P	0.51615	0.675	T	0.13818	-1.0495	9	0.56958	D	0.05	.	7.149	0.25599	0.0:0.0:1.0:0.0	.	46	Q9NXT0	ZN586_HUMAN	D	46;3;46	ENSP00000375583:E3D;ENSP00000379458:E46D	ENSP00000375583:E3D	E	+	3	2	ZNF586	62979824	0.999000	0.42202	0.936000	0.37596	0.987000	0.75469	1.586000	0.36611	1.013000	0.39391	0.655000	0.94253	GAG		PASS	0.478	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		41	315	41	315	---	---	---	---
ZNF606	80095	broad.mit.edu	37	19	58490799	58490799	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:58490799G>C	ENST00000341164.4	-	7	1869	c.1249C>G	c.(1249-1251)Caa>Gaa	p.Q417E	ZNF606_ENST00000536132.1_Missense_Mutation_p.Q327E	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	417					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)	p.Q417E(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		TTCTTATGTTGAATAAGGTAA	0.393																																						uc002qqw.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1249-1251)CAA>GAA		zinc finger protein 606							56.0	56.0	56.0					19																	58490799		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490799G>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1249C>G	19.37:g.58490799G>C	ENSP00000343617:p.Gln417Glu					ZNF606_uc010yhp.1_Missense_Mutation_p.Q327E	p.Q417E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1867	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	417			C2H2-type 3; degenerate.		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1249C>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	7.907	0.735570	0.15574	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.16324	2.35;2.35;2.35	4.63	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000488	T	0.06142	0.0159	N	0.05280	-0.08	0.09310	N	1	B	0.26258	0.145	B	0.26693	0.072	T	0.41233	-0.9520	10	0.05525	T	0.97	.	7.7352	0.28810	0.0:0.2813:0.5581:0.1606	.	417	Q8WXB4	ZN606_HUMAN	E	417;327;417	ENSP00000343617:Q417E;ENSP00000445624:Q327E;ENSP00000446972:Q417E	ENSP00000343617:Q417E	Q	-	1	0	ZNF606	63182611	0.000000	0.05858	0.993000	0.49108	0.837000	0.47467	-0.283000	0.08433	2.565000	0.86533	0.655000	0.94253	CAA		PASS	0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		20	121	20	121	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58723025	58723025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr19:58723025G>T	ENST00000326804.4	+	8	1408	c.949G>T	c.(949-951)Gag>Tag	p.E317*	ZNF274_ENST00000345813.3_Nonsense_Mutation_p.E285*|ZNF274_ENST00000424679.2_Nonsense_Mutation_p.E212*|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	318	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E285*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGTGATGCTGGAGACCTTTGG	0.642																																						uc002qrq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(952-954)GAG>TAG		zinc finger protein 274 isoform c							93.0	107.0	102.0					19																	58723025		2197	4300	6497	SO:0001587	stop_gained	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.chr19:58723025G>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.949G>T	19.37:g.58723025G>T	ENSP00000321209:p.Glu317*					ZNF274_uc002qrr.1_Nonsense_Mutation_p.E286*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.E213*|ZNF274_uc010eum.1_Nonsense_Mutation_p.E77*	p.E318*	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	9	1411	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	318			KRAB 2.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Nonsense_Mutation	SNP	ENST00000326804.4	37	c.952G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.821899	0.98966	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	.	.	.	5.17	5.17	0.71159	.	0.000000	0.36034	N	0.002825	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.5906	14.0107	0.64495	0.0:0.0:1.0:0.0	.	.	.	.	X	317;285;212	.	ENSP00000321209:E317X	E	+	1	0	ZNF274	63414837	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.890000	0.56220	2.688000	0.91661	0.563000	0.77884	GAG		PASS	0.642	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		34	126	34	126	---	---	---	---
SPEF1	25876	broad.mit.edu	37	20	3760348	3760348	+	Missense_Mutation	SNP	G	G	C	rs565393120		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:3760348G>C	ENST00000379756.3	-	2	344	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	62						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.L62V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TTCTGCTGGAGAGAGTTGGCG	0.527																																						uc002wjj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CTC>GTC		calponin-homology and microtubule-associated							96.0	99.0	98.0					20																	3760348		2010	4161	6171	SO:0001583	missense	25876					cilium axoneme|cytoplasm|cytoskeleton		g.chr20:3760348G>C	AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.184C>G	20.37:g.3760348G>C	ENSP00000369080:p.Leu62Val						p.L62V	NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN			2	352	-			62					A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	c.184C>G	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	G	0.431	-0.903284	0.02453	.	.	ENSG00000101222	ENST00000379756	T	0.21361	2.01	5.14	1.8	0.24995	Calponin homology domain (1);	0.212114	0.41001	D	0.000972	T	0.08537	0.0212	N	0.11845	0.185	0.21064	N	0.999793	B	0.02656	0.0	B	0.01281	0.0	T	0.37291	-0.9712	10	0.09338	T	0.73	-10.1736	6.4175	0.21725	0.0845:0.14:0.6481:0.1274	.	62	Q9Y4P9	SPEF1_HUMAN	V	62	ENSP00000369080:L62V	ENSP00000369080:L62V	L	-	1	0	SPEF1	3708348	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.605000	0.46283	0.562000	0.29204	-0.277000	0.10078	CTC		PASS	0.527	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2			10	64	10	64	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766431	3766431	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:3766431C>A	ENST00000379751.4	-	1	906	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	234					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)	p.D234Y(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TCGCTGCCGTCGGCATTGGCG	0.726																																						uc002wjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(700-702)GAC>TAC		centromere protein B							21.0	25.0	23.0					20																	3766431		2187	4249	6436	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766431C>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.700G>T	20.37:g.3766431C>A	ENSP00000369075:p.Asp234Tyr					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.D234Y	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	907	-			234					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.700G>T	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	10.53	1.375882	0.24857	.	.	ENSG00000125817	ENST00000379751	T	0.49139	0.79	4.04	3.09	0.35607	.	0.000000	0.35805	U	0.002966	T	0.62011	0.2393	M	0.71871	2.18	0.30962	N	0.723586	D	0.89917	1.0	D	0.87578	0.998	T	0.63554	-0.6611	10	0.72032	D	0.01	-12.6033	6.426	0.21770	0.0:0.7709:0.0:0.2291	.	234	P07199	CENPB_HUMAN	Y	234	ENSP00000369075:D234Y	ENSP00000369075:D234Y	D	-	1	0	CENPB	3714431	0.120000	0.22244	0.418000	0.26571	0.052000	0.14988	1.230000	0.32612	0.691000	0.31592	-0.389000	0.06534	GAC		PASS	0.726	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		19	29	19	29	---	---	---	---
SLC24A3	57419	broad.mit.edu	37	20	19662590	19662590	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:19662590G>A	ENST00000328041.6	+	10	1053	c.856G>A	c.(856-858)Gat>Aat	p.D286N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	286					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D286N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCTGAAATTGATGACAGCAG	0.498																																						uc002wrl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)GAT>AAT		solute carrier family 24							153.0	126.0	135.0					20																	19662590		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19662590G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.856G>A	20.37:g.19662590G>A	ENSP00000333519:p.Asp286Asn						p.D286N	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			10	1053	+			286			Cytoplasmic (Potential).		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.856G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222588	0.79464	.	.	ENSG00000185052	ENST00000328041	T	0.61510	0.1	5.06	5.06	0.68205	.	0.093729	0.64402	D	0.000001	T	0.57330	0.2046	M	0.64997	1.995	0.80722	D	1	B	0.25563	0.129	B	0.26969	0.075	T	0.54437	-0.8294	9	.	.	.	.	18.3964	0.90501	0.0:0.0:1.0:0.0	.	286	Q9HC58	NCKX3_HUMAN	N	286	ENSP00000333519:D286N	.	D	+	1	0	SLC24A3	19610590	1.000000	0.71417	0.868000	0.34077	0.928000	0.56348	9.173000	0.94815	2.509000	0.84616	0.491000	0.48974	GAT		PASS	0.498	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		6	58	6	58	---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19945645	19945645	+	Silent	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:19945645C>G	ENST00000255006.6	+	6	809	c.660C>G	c.(658-660)ctC>ctG	p.L220L	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	171					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)	p.L220L(1)|p.L171L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TATTCCGGCTCATTGCTTTCT	0.468																																						uc002wro.1																			2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(1)	5						c.(511-513)CTC>CTG		Ras and Rab interactor 2							175.0	160.0	164.0					20																	19945645		1868	4105	5973	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19945645C>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.660C>G	20.37:g.19945645C>G						RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Intron	p.L171L	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			5	549	+			171			SH2.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.513C>G	CCDS56182.1																																																																																				PASS	0.468	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			17	196	17	196	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21494134	21494134	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:21494134G>T	ENST00000377142.4	-	1	530	c.174C>A	c.(172-174)agC>agA	p.S58R	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	58					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)	p.S58R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCAGGGGCAGGCTCTGCACCG	0.672																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(172-174)AGC>AGA		NK2 transcription factor related, locus 2							40.0	35.0	37.0					20																	21494134		2203	4299	6502	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.chr20:21494134G>T	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.174C>A	20.37:g.21494134G>T	ENSP00000366347:p.Ser58Arg						p.S58R	NM_002509	NP_002500	O95096	NKX22_HUMAN			1	531	-			58						Missense_Mutation	SNP	ENST00000377142.4	37	c.174C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533865	0.27387	.	.	ENSG00000125820	ENST00000377142	D	0.90261	-2.64	5.03	4.07	0.47477	.	0.102093	0.64402	D	0.000003	T	0.81791	0.4897	L	0.29908	0.895	0.39380	D	0.966244	B	0.06786	0.001	B	0.04013	0.001	T	0.74321	-0.3703	10	0.14252	T	0.57	.	8.6733	0.34163	0.087:0.2044:0.7086:0.0	.	58	O95096	NKX22_HUMAN	R	58	ENSP00000366347:S58R	ENSP00000366347:S58R	S	-	3	2	NKX2-2	21442134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.093000	0.50217	2.327000	0.79052	0.563000	0.77884	AGC		PASS	0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			6	39	6	39	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687680	21687680	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:21687680C>A	ENST00000398485.2	+	2	945	c.891C>A	c.(889-891)ggC>ggA	p.G297G	PAX1_ENST00000444366.2_Silent_p.G273G|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	297					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.G203G(1)|p.G297G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACATCCTGGGCATCCGGACGT	0.662																																						uc002wsj.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|kidney(1)	2						c.(889-891)GGC>GGA		paired box 1							24.0	26.0	25.0					20																	21687680		2170	4258	6428	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687680C>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.891C>A	20.37:g.21687680C>A						PAX1_uc010zsl.1_Silent_p.G297G|PAX1_uc010zsm.1_Silent_p.G273G	p.G297G	NM_006192	NP_006183	P15863	PAX1_HUMAN			2	945	+			297					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.891C>A	CCDS13146.2																																																																																				PASS	0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			15	48	15	48	---	---	---	---
CST4	1472	broad.mit.edu	37	20	23667745	23667745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:23667745C>A	ENST00000217423.3	-	2	392	c.322G>T	c.(322-324)Gaa>Taa	p.E108*		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	108					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E108*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TCTGGCTGTTCATGGAAGGCA	0.567																																						uc002wto.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(322-324)GAA>TAA		cystatin S precursor							197.0	163.0	175.0					20																	23667745		2203	4298	6501	SO:0001587	stop_gained	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667745C>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.322G>T	20.37:g.23667745C>A	ENSP00000217423:p.Glu108*						p.E108*	NM_001899	NP_001890	P01036	CYTS_HUMAN			2	378	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		108					Q9UBI5|Q9UCS9	Nonsense_Mutation	SNP	ENST00000217423.3	37	c.322G>T	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513992	0.64522	.	.	ENSG00000101441	ENST00000217423	.	.	.	1.94	-0.34	0.12643	.	0.467860	0.21282	U	0.077126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	2.9105	0.05736	0.0:0.505:0.2984:0.1966	.	.	.	.	X	108	.	ENSP00000217423:E108X	E	-	1	0	CST4	23615745	0.000000	0.05858	0.013000	0.15412	0.643000	0.38383	0.015000	0.13355	-0.060000	0.13132	0.205000	0.17691	GAA		PASS	0.567	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		20	186	20	186	---	---	---	---
DEFB123	245936	broad.mit.edu	37	20	30037910	30037910	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:30037910G>C	ENST00000376309.3	+	2	317	c.137G>C	c.(136-138)tGc>tCc	p.C46S		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	46					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.C46S(1)		kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATGTTTACTGCATAAATAAT	0.433																																						uc002wvy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TGC>TCC		defensin, beta 123 precursor							122.0	122.0	122.0					20																	30037910		2203	4300	6503	SO:0001583	missense	245936				defense response to bacterium	extracellular region		g.chr20:30037910G>C	AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.137G>C	20.37:g.30037910G>C	ENSP00000365486:p.Cys46Ser						p.C46S	NM_153324	NP_697019	Q8N688	DB123_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	228	+	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		46						Missense_Mutation	SNP	ENST00000376309.3	37	c.137G>C	CCDS13180.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907122	0.52333	.	.	ENSG00000180424	ENST00000376309	T	0.76316	-1.01	4.52	4.52	0.55395	.	0.000000	0.52532	D	0.000079	D	0.87030	0.6076	.	.	.	0.43207	D	0.99506	D	0.76494	0.999	D	0.87578	0.998	D	0.87897	0.2688	9	0.87932	D	0	-56.5812	13.0674	0.59041	0.0:0.0:1.0:0.0	.	46	Q8N688	DB123_HUMAN	S	46	ENSP00000365486:C46S	ENSP00000365486:C46S	C	+	2	0	DEFB123	29501571	0.996000	0.38824	0.991000	0.47740	0.409000	0.31022	3.643000	0.54374	2.793000	0.96121	0.655000	0.94253	TGC		PASS	0.433	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078510.2	NM_153324		46	105	46	105	---	---	---	---
BPIFB6	128859	broad.mit.edu	37	20	31629812	31629812	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:31629812C>A	ENST00000349552.1	+	12	1179	c.1179C>A	c.(1177-1179)ggC>ggA	p.G393G		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	393						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G393G(1)									CATCGATTGGCAACTTCAATG	0.587																																						uc010zuc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1177-1179)GGC>GGA		bactericidal/permeability-increasing																																				SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31629812C>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.1179C>A	20.37:g.31629812C>A						BPIL3_uc010zud.1_Silent_p.G332G	p.G393G	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			12	1179	+			393						Silent	SNP	ENST00000349552.1	37	c.1179C>A	CCDS13211.1																																																																																				PASS	0.587	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		5	48	5	48	---	---	---	---
RALY	22913	broad.mit.edu	37	20	32664611	32664611	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:32664611G>T	ENST00000246194.3	+	7	1150	c.648G>T	c.(646-648)aaG>aaT	p.K216N	RALY_ENST00000375114.3_Missense_Mutation_p.K200N|RALY_ENST00000493399.1_3'UTR	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	216					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K216N(1)		kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CGGAGCAAAAGGCCAATCCAG	0.572																																						uc002xab.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)AAG>AAT		RNA binding protein (autoantigenic,							63.0	45.0	51.0					20																	32664611		2203	4300	6503	SO:0001583	missense	22913					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr20:32664611G>T	AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.648G>T	20.37:g.32664611G>T	ENSP00000246194:p.Lys216Asn					RALY_uc002xac.2_Missense_Mutation_p.K200N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.K216N	p.K216N	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN			7	946	+			216					Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	ENST00000246194.3	37	c.648G>T	CCDS13230.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358442	0.61403	.	.	ENSG00000125970	ENST00000375114;ENST00000246194;ENST00000333552;ENST00000442805	D;D;T;D	0.87571	-2.27;-2.27;1.53;-2.27	4.98	3.96	0.45880	.	1.992300	0.03186	N	0.172766	D	0.90106	0.6909	L	0.46157	1.445	0.29848	N	0.828662	D;D	0.67145	0.996;0.983	D;P	0.67382	0.951;0.766	T	0.78529	-0.2169	10	0.24483	T	0.36	-16.4554	6.621	0.22802	0.118:0.0:0.706:0.176	.	200;216	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	N	200;216;150;200	ENSP00000364255:K200N;ENSP00000246194:K216N;ENSP00000327522:K150N;ENSP00000415973:K200N	ENSP00000246194:K216N	K	+	3	2	RALY	32128272	0.880000	0.30214	1.000000	0.80357	0.702000	0.40608	0.244000	0.18124	2.747000	0.94245	0.460000	0.39030	AAG		PASS	0.572	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078753.1			10	28	10	28	---	---	---	---
ITCH	83737	broad.mit.edu	37	20	33068455	33068455	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:33068455A>G	ENST00000262650.6	+	20	2129	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E	ITCH_ENST00000374864.4_Missense_Mutation_p.K624E|ITCH_ENST00000535650.1_Missense_Mutation_p.K514E|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	665	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)	p.K624E(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATTCTATAAGCGTATCTT	0.338																																						uc010geu.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|lung(1)|central_nervous_system(1)	6						c.(1993-1995)AAG>GAG		itchy homolog E3 ubiquitin protein ligase							100.0	105.0	103.0					20																	33068455		2202	4300	6502	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.chr20:33068455A>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.1993A>G	20.37:g.33068455A>G	ENSP00000262650:p.Lys665Glu					ITCH_uc002xak.2_Missense_Mutation_p.K624E|ITCH_uc010zuj.1_Missense_Mutation_p.K514E	p.K665E	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			20	2185	+			665			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1993A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	33	5.287291	0.95517	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.55052	0.54;0.54;0.54	5.82	5.82	0.92795	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	D	0.86846	0.2020	10	0.87932	D	0	.	15.858	0.79000	1.0:0.0:0.0:0.0	.	576;665;624	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	E	624;514;665	ENSP00000363998:K624E;ENSP00000445608:K514E;ENSP00000262650:K665E	ENSP00000262650:K665E	K	+	1	0	ITCH	32532116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.275000	0.95738	2.232000	0.73038	0.528000	0.53228	AAG		PASS	0.338	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			35	161	35	161	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34300964	34300964	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:34300964G>C	ENST00000253363.6	-	12	1174	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	RBM39_ENST00000407261.4_Missense_Mutation_p.S227C|RBM39_ENST00000361162.6_Missense_Mutation_p.S384C|RBM39_ENST00000528062.3_Missense_Mutation_p.S362C			Q14498	RBM39_HUMAN	RNA binding motif protein 39	384	Interaction with ESR1 and ESR2. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S384C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AAATGCCAAAGAGCCACTCAT	0.363																																						uc002xeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1150-1152)TCT>TGT		RNA binding motif protein 39 isoform a							59.0	56.0	57.0					20																	34300964		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34300964G>C	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1151C>G	20.37:g.34300964G>C	ENSP00000253363:p.Ser384Cys					RBM39_uc002xdz.2_Missense_Mutation_p.S360C|RBM39_uc002xea.2_Missense_Mutation_p.S227C|RBM39_uc010gfn.2_Missense_Mutation_p.S227C|RBM39_uc010zvm.1_Missense_Mutation_p.S362C|RBM39_uc002xeg.2_Missense_Mutation_p.S362C|RBM39_uc002xec.2_Missense_Mutation_p.S384C|RBM39_uc002xed.2_Missense_Mutation_p.S102C|RBM39_uc002xee.2_Missense_Mutation_p.S227C|RBM39_uc002xef.2_Missense_Mutation_p.S227C|RBM39_uc010zvn.1_Missense_Mutation_p.S227C	p.S384C	NM_184234	NP_909122	Q14498	RBM39_HUMAN			12	1495	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		384			Interaction with ESR1 and ESR2 (By similarity).|Interaction with JUN (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1151C>G	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006169	0.93287	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.62365	0.98;0.98;0.967;0.985;0.991	P;P;P;P;P	0.55391	0.662;0.775;0.77;0.662;0.76	T	0.68708	-0.5337	10	0.72032	D	0.01	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	362;362;384;384;360	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	C	384;384;362;227	ENSP00000253363:S384C;ENSP00000354437:S384C;ENSP00000436747:S362C;ENSP00000384541:S227C	ENSP00000253363:S384C	S	-	2	0	RBM39	33764378	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.363000	0.97131	2.706000	0.92434	0.650000	0.86243	TCT		PASS	0.363	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		7	74	7	74	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40045984	40045984	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:40045984G>A	ENST00000373233.3	-	32	6310	c.6133C>T	c.(6133-6135)Cca>Tca	p.P2045S	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2045					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)	p.P2045S(1)		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)				TACTTCCCTGGATAATCTGGG	0.438																																						uc002xka.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6133-6135)CCA>TCA		chromodomain helicase DNA binding protein 6							80.0	83.0	82.0					20																	40045984		2203	4300	6503	SO:0001583	missense	84181				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.chr20:40045984G>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.6133C>T	20.37:g.40045984G>A	ENSP00000362330:p.Pro2045Ser					CHD6_uc002xjz.1_5'Flank	p.P2045S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			32	6311	-		Myeloproliferative disorder(115;0.00425)	2045					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6133C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555790	0.65425	.	.	ENSG00000124177	ENST00000373233	D	0.85556	-2.0	5.44	3.43	0.39272	.	0.109676	0.41294	D	0.000915	D	0.90535	0.7034	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89173	0.3538	10	0.36615	T	0.2	-0.374	16.2158	0.82217	0.0:0.2506:0.7494:0.0	.	2045	Q8TD26	CHD6_HUMAN	S	2045	ENSP00000362330:P2045S	ENSP00000362330:P2045S	P	-	1	0	CHD6	39479398	0.997000	0.39634	0.938000	0.37757	0.878000	0.50629	1.806000	0.38892	0.727000	0.32360	0.655000	0.94253	CCA		PASS	0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			12	114	12	114	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47701833	47701833	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:47701833G>C	ENST00000262982.2	+	16	1756	c.1633G>C	c.(1633-1635)Gaa>Caa	p.E545Q	CSE1L_ENST00000396192.3_Missense_Mutation_p.E489Q|CSE1L_ENST00000542325.1_Missense_Mutation_p.E328Q	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	545					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)	p.E545Q(1)		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)			TACAGCTGCAGAAATCGCACC	0.413																																						uc002xty.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1633-1635)GAA>CAA		CSE1 chromosome segregation 1-like protein							89.0	84.0	86.0					20																	47701833		2202	4300	6502	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47701833G>C	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.1633G>C	20.37:g.47701833G>C	ENSP00000262982:p.Glu545Gln					CSE1L_uc010zyg.1_Missense_Mutation_p.E328Q|CSE1L_uc010ghx.2_Missense_Mutation_p.E489Q|CSE1L_uc010ghy.2_Missense_Mutation_p.E166Q|CSE1L_uc010zyh.1_Missense_Mutation_p.E194Q	p.E545Q	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		16	1767	+			545					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1633G>C	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131129	0.56828	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.45668	0.89;0.89;0.89	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.042817	0.85682	D	0.000000	T	0.39886	0.1095	L	0.34521	1.04	0.80722	D	1	B;P;B;B;P	0.37594	0.035;0.601;0.009;0.178;0.601	B;B;B;B;B	0.41691	0.02;0.364;0.045;0.162;0.364	T	0.06144	-1.0843	10	0.22109	T	0.4	-14.4164	19.5155	0.95162	0.0:0.0:1.0:0.0	.	234;328;489;489;545	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	Q	143;545;328;489	ENSP00000262982:E545Q;ENSP00000446477:E328Q;ENSP00000379495:E489Q	ENSP00000262982:E545Q	E	+	1	0	CSE1L	47135240	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.211000	0.95120	2.776000	0.95493	0.655000	0.94253	GAA		PASS	0.413	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		13	86	13	86	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47865809	47865809	+	Missense_Mutation	SNP	C	C	G	rs545179884		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:47865809C>G	ENST00000396105.1	-	14	3998	c.3752G>C	c.(3751-3753)cGa>cCa	p.R1251P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1251P|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1251							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1251P(2)		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)			ATTGTTCTCTCGAAGTGTATG	0.517																																						uc002xui.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3751-3753)CGA>CCA		zinc finger, NFX1-type containing 1							78.0	74.0	76.0					20																	47865809		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865809C>G	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.3752G>C	20.37:g.47865809C>G	ENSP00000379412:p.Arg1251Pro						p.R1251P	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	3999	-			1251					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3752G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446862	0.43429	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.87809	-2.3;-2.3	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93481	0.7920	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93236	0.6622	10	0.66056	D	0.02	-10.1751	19.1207	0.93362	0.0:1.0:0.0:0.0	.	1251	Q9P2E3	ZNFX1_HUMAN	P	1251	ENSP00000360817:R1251P;ENSP00000379412:R1251P	ENSP00000360817:R1251P	R	-	2	0	ZNFX1	47299216	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	4.924000	0.63418	2.861000	0.98227	0.655000	0.94253	CGA		PASS	0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		23	129	23	129	---	---	---	---
FAM65C	140876	broad.mit.edu	37	20	49209624	49209624	+	Silent	SNP	C	C	T	rs377612084		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:49209624C>T	ENST00000327979.2	-	18	2721	c.2310G>A	c.(2308-2310)caG>caA	p.Q770Q	FAM65C_ENST00000045083.2_Silent_p.Q770Q|FAM65C_ENST00000535356.1_Silent_p.Q774Q			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	770								p.Q770Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCTCTGCCTCTGCAGGTAGC	0.587																																						uc002xvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2308-2310)CAG>CAA		hypothetical protein LOC140876		C		0,3956		0,0,1978	97.0	99.0	98.0		2310	3.7	1.0	20		98	2,8334		0,2,4166	no	coding-synonymous	FAM65C	NM_080829.2		0,2,6144	TT,TC,CC		0.024,0.0,0.0163		770/947	49209624	2,12290	1978	4168	6146	SO:0001819	synonymous_variant	140876							g.chr20:49209624C>T	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2310G>A	20.37:g.49209624C>T						FAM65C_uc010zyt.1_Silent_p.Q774Q|FAM65C_uc010zyu.1_RNA	p.Q770Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			18	2628	-			770					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.2310G>A	CCDS13431.2																																																																																				PASS	0.587	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			26	172	26	172	---	---	---	---
STMN3	50861	broad.mit.edu	37	20	62275232	62275232	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:62275232G>A	ENST00000370053.1	-	3	249	c.168C>T	c.(166-168)gtC>gtT	p.V56V	STMN3_ENST00000540534.1_Silent_p.V45V	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	56	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)	p.V56V(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			ACTTGAGGATGACCTCGAAGC	0.617																																						uc002yfr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)GTC>GTT		SCG10-like-protein							100.0	91.0	94.0					20																	62275232		2203	4300	6503	SO:0001819	synonymous_variant	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62275232G>A	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.168C>T	20.37:g.62275232G>A						STMN3_uc011abb.1_Silent_p.V56V	p.V56V	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		3	250	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		56					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Silent	SNP	ENST00000370053.1	37	c.168C>T	CCDS13529.1																																																																																				PASS	0.617	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		26	153	26	153	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62648166	62648166	+	Intron	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr20:62648166C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.R539W|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R539W(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAGGAAGATCGGAAGCATAC	0.562																																						uc002yho.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1615-1617)CGG>TGG		PRP6 pre-mRNA processing factor 6 homolog							188.0	154.0	166.0					20																	62648166		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.chr20:62648166C>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+31891G>A	20.37:g.62648166C>T						PRPF6_uc002yhp.2_Missense_Mutation_p.R539W	p.R539W	NM_012469	NP_036601	O94906	PRP6_HUMAN			12	1783	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		539					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1615C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178470	0.78564	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34667	1.35;1.35	6.16	5.15	0.70609	.	0.103323	0.64402	D	0.000002	T	0.70876	0.3274	H	0.94222	3.51	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.70716	0.97;0.667	T	0.78861	-0.2037	10	0.72032	D	0.01	.	18.3202	0.90236	0.1269:0.8731:0.0:0.0	.	539;539	O94906-2;O94906	.;PRP6_HUMAN	W	539	ENSP00000266079:R539W;ENSP00000446216:R539W	ENSP00000266079:R539W	R	+	1	2	PRPF6	62118610	0.999000	0.42202	1.000000	0.80357	0.841000	0.47740	2.050000	0.41297	2.937000	0.99478	0.650000	0.86243	CGG		PASS	0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		4	82	4	82	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15558281	15558281	+	Splice_Site	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:15558281C>A	ENST00000536861.1	-	3	541		c.e3+1		LIPI_ENST00000344577.2_Splice_Site			Q6XZB0	LIPI_HUMAN	lipase, member I						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.?(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		aataattttaCCTGTTATTCT	0.318																																						uc002yjm.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e3+1		lipase, member I							51.0	53.0	52.0					21																	15558281		2203	4298	6501	SO:0001630	splice_region_variant	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15558281C>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.541+1G>T	21.37:g.15558281C>A						LIPI_uc010gkw.1_Splice_Site_p.G135_splice	p.G202_splice	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	3	614	-								G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Splice_Site	SNP	ENST00000536861.1	37	c.604_splice		.	.	.	.	.	.	.	.	.	.	C	19.44	3.828071	0.71143	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981;ENST00000400211	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1249	0.89583	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIPI	14480152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.842000	0.75379	2.455000	0.83008	0.650000	0.86243	.		PASS	0.318	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	Intron	6	125	6	125	---	---	---	---
GABPA	2551	broad.mit.edu	37	21	27117588	27117588	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:27117588G>C	ENST00000354828.3	+	3	672	c.145G>C	c.(145-147)Ggc>Cgc	p.G49R	GABPA_ENST00000400075.3_Missense_Mutation_p.G49R|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	49					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|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)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.G49R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TGAACCAATAGGCAATTTAAA	0.358																																						uc002ylx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(145-147)GGC>CGC		GA binding protein transcription factor, alpha							73.0	72.0	73.0					21																	27117588		2203	4295	6498	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27117588G>C		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.145G>C	21.37:g.27117588G>C	ENSP00000346886:p.Gly49Arg					GABPA_uc002yly.3_Missense_Mutation_p.G49R	p.G49R	NM_002040	NP_002031	Q06546	GABPA_HUMAN			3	672	+			49					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.145G>C	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684348	0.88639	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.11604	2.76;2.76	5.23	5.23	0.72850	GA-binding protein alpha subunit, N-terminal (1);	0.102342	0.64402	D	0.000002	T	0.20780	0.0500	L	0.44542	1.39	0.80722	D	1	P	0.49961	0.93	P	0.53006	0.715	T	0.00258	-1.1871	10	0.59425	D	0.04	.	18.3943	0.90493	0.0:0.0:1.0:0.0	.	49	Q06546	GABPA_HUMAN	R	49	ENSP00000346886:G49R;ENSP00000382948:G49R	ENSP00000346886:G49R	G	+	1	0	GABPA	26039459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.402000	0.97298	2.436000	0.82500	0.655000	0.94253	GGC		PASS	0.358	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		7	129	7	129	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34058125	34058125	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:34058125G>C	ENST00000322229.7	-	8	1050	c.1051C>G	c.(1051-1053)Ctt>Gtt	p.L351V	SYNJ1_ENST00000382491.3_Missense_Mutation_p.L351V|SYNJ1_ENST00000382499.2_Missense_Mutation_p.L390V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L390V|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L351V			O43426	SYNJ1_HUMAN	synaptojanin 1	351	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				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)	p.L351V(1)		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						TGAGGTTTAAGAACACTATGT	0.338																																						uc002yqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1168-1170)CTT>GTT		synaptojanin 1 isoform a							121.0	115.0	117.0					21																	34058125		2202	4300	6502	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34058125G>C	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.1051C>G	21.37:g.34058125G>C	ENSP00000322234:p.Leu351Val					SYNJ1_uc011ads.1_Missense_Mutation_p.L351V|SYNJ1_uc002yqf.2_Missense_Mutation_p.L351V|SYNJ1_uc002yqg.2_Missense_Mutation_p.L351V|SYNJ1_uc002yqi.2_Missense_Mutation_p.L390V	p.L390V	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			9	1168	-			351			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1168C>G	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344132	0.61073	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	D;D;D;D;D;D	0.95307	-2.78;-3.65;-3.67;-2.88;-2.87;-2.54	5.64	4.76	0.60689	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	L	0.56124	1.755	0.54753	D	0.999981	D;D;D;D;D	0.89917	0.996;0.999;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.931;0.967;0.988;0.967;0.997	D	0.95326	0.8425	10	0.56958	D	0.05	.	10.5728	0.45211	0.1468:0.0:0.8532:0.0	.	351;390;351;351;351	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	351;351;390;390;351;351	ENSP00000371931:L351V;ENSP00000349903:L351V;ENSP00000371939:L390V;ENSP00000409667:L390V;ENSP00000322234:L351V;ENSP00000413649:L351V	ENSP00000322234:L351V	L	-	1	0	SYNJ1	32979996	1.000000	0.71417	0.932000	0.37286	0.898000	0.52572	5.684000	0.68197	1.386000	0.46466	0.484000	0.47621	CTT		PASS	0.338	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				33	79	33	79	---	---	---	---
GART	2618	broad.mit.edu	37	21	34897293	34897293	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:34897293G>C	ENST00000381831.3	-	11	1344	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	GART_ENST00000381815.4_Missense_Mutation_p.Q361E|GART_ENST00000543717.1_5'Flank|GART_ENST00000381839.3_Missense_Mutation_p.Q361E|GART_ENST00000361093.5_Missense_Mutation_p.Q361E	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	361					'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)	p.Q361E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCTAGAGCTTGAGCCTCAGGA	0.448																																						uc002yrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1081-1083)CAA>GAA		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						66.0	57.0	60.0					21																	34897293		2203	4300	6503	SO:0001583	missense	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.chr21:34897293G>C	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.1081C>G	21.37:g.34897293G>C	ENSP00000371253:p.Gln361Glu					GART_uc002yrz.2_Missense_Mutation_p.Q361E|GART_uc010gmd.2_Missense_Mutation_p.Q23E|GART_uc002yry.2_Missense_Mutation_p.Q361E|GART_uc002ysa.2_Missense_Mutation_p.Q361E	p.Q361E	NM_000819	NP_000810	P22102	PUR2_HUMAN			11	1216	-			361					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.1081C>G	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	0.108	-1.143109	0.01728	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	6.03	1.7	0.24286	Rudiment single hybrid motif (1);Phosphoribosylglycinamide synthetase, C-domain (2);	0.680747	0.16288	N	0.221041	T	0.13713	0.0332	N	0.01624	-0.795	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	10	0.02654	T	1	0.2745	10.9186	0.47150	0.0:0.0971:0.2485:0.6544	.	361	P22102	PUR2_HUMAN	E	361	ENSP00000371236:Q361E;ENSP00000371253:Q361E;ENSP00000371261:Q361E;ENSP00000354388:Q361E	ENSP00000354388:Q361E	Q	-	1	0	GART	33819163	0.636000	0.27207	0.037000	0.18230	0.565000	0.35776	2.068000	0.41471	0.405000	0.25532	-0.321000	0.08615	CAA		PASS	0.448	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		13	68	13	68	---	---	---	---
KCNJ6	3763	broad.mit.edu	37	21	39087405	39087405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:39087405G>A	ENST00000609713.1	-	3	644	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.Q19*|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	19					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)	p.Q19*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCGACGTCCTGATCCATGGAG	0.527																																					Pancreas(48;379 1118 2936 19024 28214)	uc011aej.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(55-57)CAG>TAG		potassium inwardly-rectifying channel J6	Halothane(DB01159)						73.0	67.0	69.0					21																	39087405		2002	4177	6179	SO:0001587	stop_gained	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087405G>A	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.55C>T	21.37:g.39087405G>A	ENSP00000477437:p.Gln19*					KCNJ6_uc002ywo.2_Nonsense_Mutation_p.Q19*	p.Q19*	NM_002240	NP_002231	P48051	IRK6_HUMAN			3	108	-			19			Cytoplasmic (By similarity).		Q3MJ74|Q53WW6	Nonsense_Mutation	SNP	ENST00000609713.1	37	c.55C>T	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	G	42	9.198743	0.99098	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	.	.	.	5.8	5.8	0.92144	.	0.066164	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.2511	0.90004	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000288309:Q19X	Q	-	1	0	KCNJ6	38009275	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	9.102000	0.94226	2.744000	0.94065	0.655000	0.94253	CAG		PASS	0.527	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		14	44	14	44	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40568985	40568985	+	Missense_Mutation	SNP	C	C	T	rs201905326		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:40568985C>T	ENST00000333229.2	-	41	6337	c.6010G>A	c.(6010-6012)Gaa>Aaa	p.E2004K	BRWD1_ENST00000342449.3_Missense_Mutation_p.E2004K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E2004K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2004					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)		p.E2004K(2)		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)				GTACTACCTTCGGAGTCAGGA	0.418																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(6010-6012)GAA>AAA		bromodomain and WD repeat domain containing 1							182.0	157.0	166.0					21																	40568985		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40568985C>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.6010G>A	21.37:g.40568985C>T	ENSP00000330753:p.Glu2004Lys					BRWD1_uc010goc.1_Missense_Mutation_p.E647K|BRWD1_uc002yxl.2_Missense_Mutation_p.E2004K	p.E2004K	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			41	6149	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2004					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6010G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	8.176	0.792667	0.16258	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54866	0.55;0.57;0.65	4.9	3.02	0.34903	.	0.385617	0.24846	N	0.035122	T	0.45155	0.1328	M	0.64997	1.995	0.20074	N	0.999935	B;B	0.29862	0.259;0.102	B;B	0.22880	0.042;0.007	T	0.27739	-1.0065	10	0.11794	T	0.64	-3.4259	13.9044	0.63826	0.0:0.6975:0.3025:0.0	.	2004;2004	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	2004	ENSP00000330753:E2004K;ENSP00000344333:E2004K;ENSP00000370178:E2004K	ENSP00000330753:E2004K	E	-	1	0	BRWD1	39490855	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.007000	0.13174	0.430000	0.26230	0.563000	0.77884	GAA		PASS	0.418	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		31	163	31	163	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45821777	45821777	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:45821777G>A	ENST00000397928.1	+	16	2980	c.2535G>A	c.(2533-2535)cgG>cgA	p.R845R	TRPM2_ENST00000300482.5_Silent_p.R845R|TRPM2_ENST00000397932.2_Silent_p.R845R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R825R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	845					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.R845R(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						AGGAGATGCGGCAGGTACAGC	0.627																																						uc002zet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2533-2535)CGG>CGA		transient receptor potential cation channel,							230.0	197.0	208.0					21																	45821777		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821777G>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.2535G>A	21.37:g.45821777G>A						TRPM2_uc002zeu.1_Silent_p.R845R|TRPM2_uc002zew.1_Silent_p.R845R|TRPM2_uc010gpt.1_Silent_p.R845R|TRPM2_uc002zex.1_Silent_p.R631R|TRPM2_uc002zey.1_Silent_p.R358R	p.R845R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2748	+			845			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2535G>A	CCDS13710.1																																																																																				PASS	0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		85	130	85	130	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.E1078K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607																																						uc002zir.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(3232-3234)GAG>AAG		minichromosome maintenance complex component 3							48.0	43.0	44.0					21																	47685237		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47685237C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3232G>A	21.37:g.47685237C>T	ENSP00000380820:p.Glu1078Lys					MCM3AP_uc002ziq.1_Missense_Mutation_p.E5K	p.E1078K	NM_003906	NP_003897	O60318	MCM3A_HUMAN			12	3268	-	Breast(49;0.112)		1078					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3232G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	MCM3AP	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG		PASS	0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		7	39	7	39	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47783764	47783764	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:47783764G>A	ENST00000359568.5	+	14	2631	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	842					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.E842*(1)|p.E842K(1)|p.E842Q(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)					GTGTGGGCGGGAGCCGCCCAC	0.662																																						uc002zji.3																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|breast(2)|pancreas(2)	8						c.(2524-2526)GAG>AAG		pericentrin							69.0	81.0	77.0					21																	47783764		2193	4278	6471	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783764G>A	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.2524G>A	21.37:g.47783764G>A	ENSP00000352572:p.Glu842Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E724K	p.E842K	NM_006031	NP_006022	O95613	PCNT_HUMAN			14	2631	+	Breast(49;0.112)		842					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2524G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108070	0.56291	.	.	ENSG00000160299	ENST00000359568	T	0.24908	1.83	4.43	3.52	0.40303	.	0.000000	0.33346	N	0.005003	T	0.36054	0.0953	M	0.64997	1.995	0.34880	D	0.744466	D;D	0.61080	0.974;0.989	P;P	0.55391	0.613;0.775	T	0.46020	-0.9221	10	0.14656	T	0.56	.	11.972	0.53069	0.0:0.3333:0.6667:0.0	.	724;842	O95613-2;O95613	.;PCNT_HUMAN	K	842	ENSP00000352572:E842K	ENSP00000352572:E842K	E	+	1	0	PCNT	46608192	0.939000	0.31865	0.869000	0.34112	0.269000	0.26545	3.996000	0.57009	0.816000	0.34421	0.491000	0.48974	GAG		PASS	0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		25	132	25	132	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47959842	47959842	+	Silent	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr21:47959842G>C	ENST00000417564.2	+	17	1995	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	DIP2A_ENST00000318711.7_Silent_p.L659L|DIP2A_ENST00000427143.2_Silent_p.L594L|DIP2A_ENST00000435722.3_Silent_p.L658L|DIP2A_ENST00000466639.1_Silent_p.L615L|DIP2A_ENST00000457905.3_Silent_p.L658L|DIP2A_ENST00000400274.1_Silent_p.L654L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	658					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L658L(1)|p.L594L(1)|p.L659L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCAGAGGTCTGAGGCCAGAGG	0.557																																						uc002zjo.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1972-1974)CTG>CTC		disco-interacting protein 2A isoform a							149.0	157.0	154.0					21																	47959842		2122	4235	6357	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959842G>C	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1974G>C	21.37:g.47959842G>C						DIP2A_uc011afy.1_Silent_p.L594L|DIP2A_uc011afz.1_Silent_p.L654L|DIP2A_uc002zjl.2_Silent_p.L658L|DIP2A_uc002zjm.2_Silent_p.L658L|DIP2A_uc010gql.2_Silent_p.L615L|DIP2A_uc002zjn.2_Silent_p.L658L|DIP2A_uc002zjp.1_Silent_p.L403L|DIP2A_uc002zjq.2_Silent_p.L50L	p.L658L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	17	2157	+	Breast(49;0.0933)		658					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1974G>C	CCDS46655.1																																																																																				PASS	0.557	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		14	103	14	103	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619180	17619180	+	Missense_Mutation	SNP	C	C	G	rs368256477		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:17619180C>G	ENST00000336737.4	-	8	1028	c.1003G>C	c.(1003-1005)Gat>Cat	p.D335H	CECR5_ENST00000399852.3_Missense_Mutation_p.D135H|CECR5_ENST00000155674.5_Missense_Mutation_p.D305H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	335						mitochondrion (GO:0005739)		p.D335H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGCGCCCCATCATGCGTTGCC	0.587																																						uc002zmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GAT>CAT		cat eye syndrome chromosome region, candidate 5							64.0	61.0	62.0					22																	17619180		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619180C>G	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.1003G>C	22.37:g.17619180C>G	ENSP00000337358:p.Asp335His					CECR5_uc002zmd.2_Missense_Mutation_p.D146H|CECR5_uc002zme.2_Missense_Mutation_p.D127H|CECR5_uc002zmg.2_Missense_Mutation_p.D135H|CECR5_uc002zmh.2_Missense_Mutation_p.D305H	p.D335H	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			8	1031	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	335					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.1003G>C	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163125	0.38217	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.24151	1.87;1.87;1.87	4.47	2.32	0.28847	HAD-like domain (2);	1.308000	0.04808	N	0.434711	T	0.24198	0.0586	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.49635	0.733;0.926;0.747;0.836	P;P;P;P	0.52217	0.605;0.532;0.497;0.693	T	0.17289	-1.0374	10	0.46703	T	0.11	0.7895	5.0577	0.14540	0.0:0.5956:0.1733:0.2311	.	305;135;335;199	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	305;335;135	ENSP00000155674:D305H;ENSP00000337358:D335H;ENSP00000382745:D135H	ENSP00000155674:D305H	D	-	1	0	CECR5	15999180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.490000	0.27771	-0.258000	0.10820	GAT		PASS	0.587	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		9	103	9	103	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18374399	18374399	+	Splice_Site	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:18374399C>G	ENST00000441493.2	-	12	1899		c.e12-1		MICAL3_ENST00000429452.1_Splice_Site|MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	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)|zinc ion binding (GO:0008270)	p.?(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCTACAGACTCTAAAACAACA	0.458																																						uc002zng.3																			3	Unknown(3)		lung(3)		0						c.e12-1		microtubule associated monoxygenase, calponin							83.0	68.0	73.0					22																	18374399		1568	3582	5150	SO:0001630	splice_region_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18374399C>G	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1547-1G>C	22.37:g.18374399C>G						MICAL3_uc011agl.1_Splice_Site_p.E516_splice|MICAL3_uc002znh.2_Splice_Site_p.E516_splice|MICAL3_uc002znj.1_Splice_Site_p.E216_splice|MICAL3_uc002znk.1_Splice_Site_p.E516_splice|MICAL3_uc002znl.1_Splice_Site_p.E149_splice|MICAL3_uc002znm.2_Splice_Site_p.E17_splice|MICAL3_uc010grf.2_Splice_Site_p.E516_splice	p.E516_splice	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	12	1900	-		all_epithelial(15;0.198)						B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	ENST00000441493.2	37	c.1547_splice	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.565996	0.86439	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-B461K10.4;MICAL3	16754399	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.811000	0.86092	2.630000	0.89119	0.655000	0.94253	.		PASS	0.458	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		Intron	4	39	4	39	---	---	---	---
SERPIND1	3053	broad.mit.edu	37	22	21141193	21141193	+	Missense_Mutation	SNP	G	G	A	rs142451096		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:21141193G>A	ENST00000215727.5	+	5	1622	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E447K|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	447			E -> K (in THPH10). {ECO:0000269|PubMed:15337701}.		blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E447K(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-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)		Ardeparin(DB00407)|Sulodexide(DB06271)	CACAGTGAACGAGGAAGGCAC	0.542																																						uc002ztb.1																			2	Substitution - Missense(2)		lung(2)		0	GRCh37	CM043091	SERPIND1	M	rs142451096	c.(1339-1341)GAG>AAG		heparin cofactor II precursor	Ardeparin(DB00407)	G	LYS/GLU,	0,4406		0,0,2203	134.0	99.0	111.0		1339,	4.7	0.9	22	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	447/500,	21141193	1,13005	2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141193G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1339G>A	22.37:g.21141193G>A	ENSP00000215727:p.Glu447Lys					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E475K	p.E447K	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1406	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	447		E -> K (in HCF2D).			B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.1339G>A	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212888	0.95069	0.0	1.16E-4	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.91894	-2.93;-2.93	4.72	4.72	0.59763	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98616	1.0665	10	0.87932	D	0	.	17.8636	0.88789	0.0:0.0:1.0:0.0	.	447;447	Q8IVC0;P05546	.;HEP2_HUMAN	K	447	ENSP00000215727:E447K;ENSP00000384050:E447K	ENSP00000215727:E447K	E	+	1	0	SERPIND1	19471193	1.000000	0.71417	0.944000	0.38274	0.601000	0.36947	9.657000	0.98554	2.465000	0.83290	0.655000	0.94253	GAG		PASS	0.542	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		16	115	16	115	---	---	---	---
MAPK1	5594	broad.mit.edu	37	22	22160160	22160160	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:22160160G>T	ENST00000215832.6	-	3	659	c.471C>A	c.(469-471)ctC>ctA	p.L157L	MAPK1_ENST00000398822.3_Silent_p.L157L|MAPK1_ENST00000544786.1_Silent_p.L157L	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|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)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|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)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L157L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	AGGTGGTGTTGAGCAGCAGGT	0.393																																						uc002zvn.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(469-471)CTC>CTA		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						162.0	146.0	151.0					22																	22160160		2203	4300	6503	SO:0001819	synonymous_variant	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22160160G>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.471C>A	22.37:g.22160160G>T						MAPK1_uc002zvo.2_Silent_p.L157L|MAPK1_uc010gtk.1_Silent_p.L157L	p.L157L	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	3	711	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	157			Protein kinase.		A8CZ64	Silent	SNP	ENST00000215832.6	37	c.471C>A	CCDS13795.1																																																																																				PASS	0.393	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			20	178	20	178	---	---	---	---
APOL1	8542	broad.mit.edu	37	22	36661498	36661498	+	Missense_Mutation	SNP	G	G	T	rs375964420		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:36661498G>T	ENST00000397278.3	+	6	845	c.616G>T	c.(616-618)Gta>Tta	p.V206L	APOL1_ENST00000397279.4_Missense_Mutation_p.V206L|APOL1_ENST00000426053.1_Missense_Mutation_p.V188L|APOL1_ENST00000347595.7_Missense_Mutation_p.V85L|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.V206L|APOL1_ENST00000319136.4_Missense_Mutation_p.V222L	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	206					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.V222L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGGCAGCCTTGTACTCTTGGA	0.567																																						uc003apf.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(616-618)GTA>TTA		apolipoprotein L1 isoform a precursor		G	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	0,4406		0,0,2203	130.0	124.0	126.0		664,616,562,616	2.4	0.0	22		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	APOL1	NM_145343.2,NM_003661.3,NM_001136541.1,NM_001136540.1	32,32,32,32	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	222/415,206/399,188/381,206/399	36661498	1,13005	2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661498G>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.616G>T	22.37:g.36661498G>T	ENSP00000380448:p.Val206Leu					APOL1_uc011amn.1_Missense_Mutation_p.V83L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.V222L|APOL1_uc011amo.1_Missense_Mutation_p.V83L|APOL1_uc011amp.1_Missense_Mutation_p.V206L|APOL1_uc011amq.1_Missense_Mutation_p.V188L|APOL1_uc010gwx.2_Missense_Mutation_p.V83L	p.V206L	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	784	+			206					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.616G>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	9.666	1.145530	0.21288	0.0	1.16E-4	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92;3.92	3.42	2.37	0.29283	.	1.238070	0.05346	N	0.530948	T	0.02193	0.0068	N	0.04018	-0.295	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.003	T	0.44711	-0.9310	10	0.12103	T	0.63	.	8.5597	0.33503	0.0:0.2367:0.7633:0.0	.	188;206;222	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	L	206;206;188;222;85;206	ENSP00000380448:V206L;ENSP00000411507:V206L;ENSP00000388477:V188L;ENSP00000317674:V222L;ENSP00000216178:V85L;ENSP00000380449:V206L	ENSP00000317674:V222L	V	+	1	0	APOL1	34991444	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.222000	0.17699	0.587000	0.29643	0.205000	0.17691	GTA		PASS	0.567	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		51	235	51	235	---	---	---	---
POLR3H	171568	broad.mit.edu	37	22	41926792	41926792	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:41926792C>A	ENST00000355209.4	-	5	803	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	POLR3H_ENST00000337566.5_Missense_Mutation_p.D125Y|POLR3H_ENST00000396504.2_Missense_Mutation_p.D154Y|POLR3H_ENST00000407461.1_Missense_Mutation_p.D154Y|POLR3H_ENST00000420561.1_5'Flank	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	154					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.D125Y(1)|p.D154Y(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AAGCTCTCGTCCACCACCCGG	0.617																																						uc003baf.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(460-462)GAC>TAC		polymerase (RNA) III (DNA directed) polypeptide							129.0	101.0	111.0					22																	41926792		2203	4300	6503	SO:0001583	missense	171568				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr22:41926792C>A	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.460G>T	22.37:g.41926792C>A	ENSP00000347345:p.Asp154Tyr					POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Missense_Mutation_p.D154Y|POLR3H_uc003bai.2_Missense_Mutation_p.D125Y	p.D154Y	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN			6	520	-			154					B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	ENST00000355209.4	37	c.460G>T	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662356	0.88251	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461	.	.	.	5.73	4.71	0.59529	Nucleic acid-binding, OB-fold-like (1);RNA polymerase III, subunit Rpc25 (1);	0.047875	0.85682	D	0.000000	T	0.78438	0.4283	M	0.82630	2.6	0.80722	D	1	D;D	0.60160	0.987;0.983	P;D	0.63703	0.905;0.917	T	0.81850	-0.0743	9	0.66056	D	0.02	.	13.6884	0.62531	0.0:0.9259:0.0:0.0741	.	125;154	Q9Y535-2;Q9Y535	.;RPC8_HUMAN	Y	154;154;125;154	.	ENSP00000337627:D125Y	D	-	1	0	POLR3H	40256738	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.789000	0.69029	1.420000	0.47138	0.655000	0.94253	GAC		PASS	0.617	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338		15	84	15	84	---	---	---	---
CYP2D6	1565	broad.mit.edu	37	22	42523977	42523977	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:42523977C>T	ENST00000360608.5	-	6	966	c.852G>A	c.(850-852)ggG>ggA	p.G284G	CYP2D6_ENST00000359033.4_Silent_p.G233G|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.G284G	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	284					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.G284G(1)|p.G233G(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTCAGGGTTCCCCTTGGCCT	0.622																																						uc003bce.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|skin(1)	2						c.(850-852)GGG>GGA		cytochrome P450, family 2, subfamily D,							79.0	68.0	71.0					22																	42523977		2196	4299	6495	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42523977C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.852G>A	22.37:g.42523977C>T						uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Intron|CYP2D6_uc003bcf.2_Silent_p.G233G	p.G284G	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			6	942	-			284					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.852G>A	CCDS46721.1																																																																																				PASS	0.622	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			4	83	4	83	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46654808	46654808	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:46654808G>A	ENST00000253255.5	-	1	4411	c.4412C>T	c.(4411-4413)tCa>tTa	p.S1471L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1471					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)	p.S1471L(1)		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)		ACTTGCTTCTGACATTAGAGG	0.443																																						uc003bhh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(4411-4413)TCA>TTA		receptor for egg jelly-like protein precursor							117.0	111.0	113.0					22																	46654808		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654808G>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.4412C>T	22.37:g.46654808G>A	ENSP00000253255:p.Ser1471Leu						p.S1471L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4412	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1471			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4412C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757568	0.31137	.	.	ENSG00000130943	ENST00000253255	T	0.37235	1.21	5.06	-3.01	0.05463	.	1.620060	0.04285	N	0.344541	T	0.27349	0.0671	L	0.48642	1.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	10	0.54805	T	0.06	1.091	1.5755	0.02624	0.2425:0.2551:0.3726:0.1299	.	1471	Q9NTG1	PKDRE_HUMAN	L	1471	ENSP00000253255:S1471L	ENSP00000253255:S1471L	S	-	2	0	PKDREJ	45033472	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.384000	0.20668	-0.241000	0.09681	0.561000	0.74099	TCA		PASS	0.443	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	197	5	197	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47116103	47116103	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:47116103G>A	ENST00000216264.8	-	3	371	c.259C>T	c.(259-261)Cac>Tac	p.H87Y	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	87	Required for binding to sulfatide and phosphoinositides.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.H87Y(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTTACACAGTGAACTGCACAG	0.517																																						uc003bia.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(259-261)CAC>TAC		ceramide kinase							68.0	60.0	63.0					22																	47116103		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47116103G>A	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.259C>T	22.37:g.47116103G>A	ENSP00000216264:p.His87Tyr						p.H87Y	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	366	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	87			Required for binding to sulfatide and phosphoinositides.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.259C>T	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415737	0.25552	.	.	ENSG00000100422	ENST00000216264	T	0.17528	2.27	5.2	4.12	0.48240	Pleckstrin homology domain (1);	0.408141	0.28241	N	0.016079	T	0.07324	0.0185	N	0.12746	0.255	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.16660	-1.0395	10	0.02654	T	1	0.01	8.3778	0.32453	0.1458:0.0:0.8542:0.0	.	87	Q8TCT0	CERK1_HUMAN	Y	87	ENSP00000216264:H87Y	ENSP00000216264:H87Y	H	-	1	0	CERK	45494767	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	3.505000	0.53356	2.418000	0.82041	0.563000	0.77884	CAC		PASS	0.517	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		11	65	11	65	---	---	---	---
TBC1D22A	25771	broad.mit.edu	37	22	47308002	47308002	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:47308002C>G	ENST00000337137.4	+	8	1099	c.933C>G	c.(931-933)atC>atG	p.I311M	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.I264M|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.I252M|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.I264M|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.I233M	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	311	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.I311M(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TATGGGCGATCCGCCACCCAG	0.383																																						uc003bib.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)ATC>ATG		TBC1 domain family, member 22A							198.0	174.0	182.0					22																	47308002		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47308002C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.933C>G	22.37:g.47308002C>G	ENSP00000336724:p.Ile311Met					TBC1D22A_uc010haf.2_Missense_Mutation_p.I281M|TBC1D22A_uc003bic.2_Missense_Mutation_p.I252M|TBC1D22A_uc003bie.2_Missense_Mutation_p.I233M|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.I264M	p.I311M	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	8	1068	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	311			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.933C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553975	0.45487	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	5.56	-2.23	0.06930	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.10465	0.0256	M	0.64260	1.97	0.54753	D	0.999984	P;D;D;P	0.57257	0.81;0.973;0.979;0.81	P;P;P;P	0.61397	0.554;0.74;0.888;0.554	T	0.04870	-1.0921	10	0.32370	T	0.25	.	6.9693	0.24640	0.3251:0.4789:0.0:0.196	.	311;233;252;311	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	M	311;264;252;233;264	ENSP00000336724:I311M;ENSP00000370383:I264M;ENSP00000384036:I252M;ENSP00000347932:I233M;ENSP00000385634:I264M	ENSP00000336724:I311M	I	+	3	3	TBC1D22A	45686666	0.204000	0.23447	0.557000	0.28306	0.480000	0.33159	-0.487000	0.06505	-0.641000	0.05487	-0.136000	0.14681	ATC		PASS	0.383	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		18	179	18	179	---	---	---	---
HDAC10	83933	broad.mit.edu	37	22	50684751	50684751	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr22:50684751G>C	ENST00000216271.5	-	17	1978	c.1626C>G	c.(1624-1626)ttC>ttG	p.F542L	HDAC10_ENST00000448072.1_Missense_Mutation_p.F492L|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.F522L|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	542					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|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)|protein deacetylase activity (GO:0033558)	p.F542L(1)		endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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)		TGGAGACATGGAACATGGATA	0.597																																						uc003bkg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1624-1626)TTC>TTG		histone deacetylase 10 isoform 1							145.0	120.0	129.0					22																	50684751		2203	4300	6503	SO:0001583	missense	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|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)	g.chr22:50684751G>C	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1626C>G	22.37:g.50684751G>C	ENSP00000216271:p.Phe542Leu					TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Missense_Mutation_p.F268L|HDAC10_uc003bkf.2_Missense_Mutation_p.F268L|HDAC10_uc010hav.2_Missense_Mutation_p.F522L|HDAC10_uc003bkh.2_Missense_Mutation_p.F335L|HDAC10_uc003bki.2_Missense_Mutation_p.F492L|HDAC10_uc003bkj.2_RNA	p.F542L	NM_032019	NP_114408	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	1999	-		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)	542					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1626C>G	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097058	0.20552	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.25912	1.77;1.77;1.77	4.64	1.43	0.22495	.	0.101080	0.40640	N	0.001056	T	0.22085	0.0532	M	0.64997	1.995	0.25839	N	0.984076	B;B;B;B	0.34399	0.452;0.03;0.007;0.323	B;B;B;B	0.33454	0.164;0.007;0.007;0.048	T	0.10451	-1.0629	10	0.40728	T	0.16	-16.2199	6.7247	0.23350	0.2874:0.0:0.7126:0.0	.	522;492;542;542	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	L	542;492;522	ENSP00000216271:F542L;ENSP00000397542:F492L;ENSP00000343540:F522L	ENSP00000216271:F542L	F	-	3	2	HDAC10	49026878	0.630000	0.27155	0.145000	0.22337	0.016000	0.09150	0.706000	0.25690	0.293000	0.22520	0.561000	0.74099	TTC		PASS	0.597	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		14	158	14	158	---	---	---	---
ARSE	415	broad.mit.edu	37	X	2867672	2867672	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:2867672G>A	ENST00000381134.3	-	6	593	c.527C>T	c.(526-528)tCc>tTc	p.S176F	ARSE_ENST00000545496.1_Missense_Mutation_p.S201F|ARSE_ENST00000540563.1_Missense_Mutation_p.S131F	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	176					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|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)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				ACCCATCAAGGAGAAAGGCAT	0.517																																						uc004crc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(526-528)TCC>TTC		arylsulfatase E precursor							87.0	68.0	74.0					X																	2867672		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867672G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.527C>T	X.37:g.2867672G>A	ENSP00000370526:p.Ser176Phe					ARSE_uc011mhi.1_Missense_Mutation_p.S122F|ARSE_uc011mhh.1_Missense_Mutation_p.S201F	p.S176F	NM_000047	NP_000038	P51690	ARSE_HUMAN			6	777	-		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)	176					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.527C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	14.25	2.480398	0.44044	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134;ENST00000438544	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	3.56	3.56	0.40772	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.384105	0.26867	N	0.022091	D	0.96300	0.8793	M	0.84156	2.68	0.24024	N	0.996139	D;D;P	0.63880	0.993;0.985;0.932	D;D;D	0.65443	0.935;0.935;0.924	D	0.91260	0.5036	10	0.87932	D	0	.	14.5596	0.68126	0.0:0.0:1.0:0.0	.	131;201;176	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	F	131;201;176;176	ENSP00000438198:S131F;ENSP00000441417:S201F;ENSP00000370526:S176F;ENSP00000406528:S176F	ENSP00000370526:S176F	S	-	2	0	ARSE	2877672	0.984000	0.35163	0.289000	0.24876	0.027000	0.11550	3.056000	0.49923	1.400000	0.46741	0.597000	0.82753	TCC		PASS	0.517	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		6	42	6	42	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3239840	3239840	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:3239840T>A	ENST00000217939.6	-	5	4040	c.3886A>T	c.(3886-3888)Atg>Ttg	p.M1296L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1296						extracellular vesicular exosome (GO:0070062)		p.M1296L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGTTGTCATGTAATCTAAG	0.353																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3886-3888)ATG>TTG		adlican precursor							140.0	129.0	133.0					X																	3239840		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239840T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3886A>T	X.37:g.3239840T>A	ENSP00000217939:p.Met1296Leu						p.M1296L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	4043	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1296					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3886A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	5.657	0.305799	0.10733	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60920	0.15	3.41	-6.34	0.01982	.	2.335850	0.02273	U	0.068607	T	0.29321	0.0730	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	10	0.08837	T	0.75	.	0.8395	0.01147	0.156:0.2055:0.315:0.3235	.	1296	Q9NR99	MXRA5_HUMAN	L	1296	ENSP00000217939:M1296L	ENSP00000217939:M1296L	M	-	1	0	MXRA5	3249840	0.000000	0.05858	0.000000	0.03702	0.417000	0.31264	-1.235000	0.02928	-1.331000	0.02252	0.356000	0.21956	ATG		PASS	0.353	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		41	168	41	168	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3240621	3240621	+	Silent	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:3240621T>C	ENST00000217939.6	-	5	3259	c.3105A>G	c.(3103-3105)caA>caG	p.Q1035Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1035						extracellular vesicular exosome (GO:0070062)		p.Q1035Q(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTCAGTCCTTGTAGATGTG	0.448																																						uc004crg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(3103-3105)CAA>CAG		adlican precursor							186.0	165.0	172.0					X																	3240621		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3240621T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3105A>G	X.37:g.3240621T>C							p.Q1035Q	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3262	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1035					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.3105A>G	CCDS14124.1																																																																																				PASS	0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		45	166	45	166	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3241209	3241209	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:3241209T>A	ENST00000217939.6	-	5	2671	c.2517A>T	c.(2515-2517)gaA>gaT	p.E839D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	839						extracellular vesicular exosome (GO:0070062)		p.E839D(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGAGGATTCTTCAGCACTGG	0.488																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2515-2517)GAA>GAT		adlican precursor							112.0	106.0	108.0					X																	3241209		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241209T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2517A>T	X.37:g.3241209T>A	ENSP00000217939:p.Glu839Asp						p.E839D	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2674	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	839					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2517A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	13.13	2.146214	0.37923	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67171	-0.25	3.63	-1.8	0.07907	.	0.172474	0.26871	U	0.022072	T	0.37705	0.1013	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.15870	0.014	T	0.14309	-1.0477	10	0.41790	T	0.15	.	6.4007	0.21636	0.13:0.4486:0.0:0.4213	.	839	Q9NR99	MXRA5_HUMAN	D	839	ENSP00000217939:E839D	ENSP00000217939:E839D	E	-	3	2	MXRA5	3251209	0.691000	0.27709	0.001000	0.08648	0.009000	0.06853	-0.004000	0.12878	-0.505000	0.06568	-0.509000	0.04479	GAA		PASS	0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		25	109	25	109	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	6069167	6069167	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:6069167A>T	ENST00000381095.3	-	2	968	c.341T>A	c.(340-342)cTg>cAg	p.L114Q	NLGN4X_ENST00000381092.1_Missense_Mutation_p.L114Q|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L114Q|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L114Q|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L114Q	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	114					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.L114Q(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCTCATCCAGGTGCTGGGG	0.527																																						uc010ndh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(340-342)CTG>CAG		X-linked neuroligin 4 precursor							126.0	107.0	114.0					X																	6069167		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069167A>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.341T>A	X.37:g.6069167A>T	ENSP00000370485:p.Leu114Gln					NLGN4X_uc004crp.2_Missense_Mutation_p.L114Q|NLGN4X_uc004crq.2_Missense_Mutation_p.L114Q|NLGN4X_uc010ndi.2_Missense_Mutation_p.L114Q|NLGN4X_uc004crr.2_Missense_Mutation_p.L114Q|NLGN4X_uc010ndj.2_Missense_Mutation_p.L114Q	p.L114Q	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	842	-			114			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.341T>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714606	0.48622	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.09	4.09	0.47781	Carboxylesterase, type B (1);	.	.	.	.	T	0.76535	0.4001	M	0.65498	2.005	0.58432	D	0.999991	D;D;D	0.64830	0.994;0.988;0.994	P;P;B	0.62491	0.903;0.788;0.411	T	0.78838	-0.2046	9	0.72032	D	0.01	.	11.7174	0.51661	1.0:0.0:0.0:0.0	.	114;114;114	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	Q	114	ENSP00000370485:L114Q;ENSP00000370483:L114Q;ENSP00000275857:L114Q;ENSP00000370482:L114Q;ENSP00000439203:L114Q	ENSP00000275857:L114Q	L	-	2	0	NLGN4X	6079167	1.000000	0.71417	0.977000	0.42913	0.209000	0.24338	5.883000	0.69721	1.341000	0.45600	0.486000	0.48141	CTG		PASS	0.527	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		30	141	30	141	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9905624	9905624	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:9905624G>C	ENST00000380913.3	+	7	4128	c.4038G>C	c.(4036-4038)ttG>ttC	p.L1346F	SHROOM2_ENST00000418909.2_Missense_Mutation_p.L181F	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1346	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)	p.L1346F(1)		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)				CTATGGACTTGATGGAAGGCA	0.557																																						uc004csu.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4036-4038)TTG>TTC		apical protein of Xenopus-like							74.0	58.0	64.0					X																	9905624		2203	4300	6503	SO:0001583	missense	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:9905624G>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.4038G>C	X.37:g.9905624G>C	ENSP00000370299:p.Leu1346Phe					SHROOM2_uc004csv.2_Missense_Mutation_p.L181F|SHROOM2_uc011mic.1_Missense_Mutation_p.L181F|SHROOM2_uc004csw.1_Missense_Mutation_p.L181F	p.L1346F	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			7	4128	+		Hepatocellular(5;0.000888)	1346			ASD2.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.4038G>C	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256712	0.59321	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.48201	0.82;0.82;0.82	4.85	2.1	0.27182	Apx/shroom, ASD2 (2);	0.204155	0.33670	N	0.004678	T	0.62853	0.2462	M	0.83603	2.65	0.41142	D	0.985968	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.59166	-0.7505	10	0.59425	D	0.04	-14.3632	2.4223	0.04451	0.1585:0.2716:0.4271:0.1428	.	181;1346	Q68DU3;Q13796	.;SHRM2_HUMAN	F	1346;181;181;181	ENSP00000370299:L1346F;ENSP00000415229:L181F;ENSP00000406724:L181F	ENSP00000370299:L1346F	L	+	3	2	SHROOM2	9865624	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	0.640000	0.24705	0.023000	0.15187	0.506000	0.49869	TTG		PASS	0.557	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		15	44	15	44	---	---	---	---
TCEANC	170082	broad.mit.edu	37	X	13681157	13681157	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:13681157G>A	ENST00000380600.1	+	2	617	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	TCEANC_ENST00000314720.4_Missense_Mutation_p.C207Y|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Missense_Mutation_p.C177Y|TCEANC_ENST00000544987.1_Missense_Mutation_p.C177Y			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	177	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C177Y(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGAACTAAATGCATAGAGCTT	0.428																																						uc004cvk.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(529-531)TGC>TAC		TFIIS central domain-containing protein 1							126.0	116.0	119.0					X																	13681157		1923	4119	6042	SO:0001583	missense	170082				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:13681157G>A		CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.530G>A	X.37:g.13681157G>A	ENSP00000369974:p.Cys177Tyr					TCEANC_uc010nee.1_Missense_Mutation_p.C177Y|TCEANC_uc010nef.1_Missense_Mutation_p.C177Y|TCEANC_uc010neg.1_Missense_Mutation_p.C207Y|TCEANC_uc004cvl.2_RNA	p.C177Y	NM_152634	NP_689847	Q8N8B7	TEANC_HUMAN			2	760	+			177			TFIIS central.		A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37	c.530G>A		.	.	.	.	.	.	.	.	.	.	G	17.57	3.421689	0.62622	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.26	4.33	0.51752	Transcription elongation factor S-II, central domain (4);	0.063560	0.64402	D	0.000006	T	0.70378	0.3217	M	0.92367	3.3	0.45718	D	0.99862	D;D	0.76494	0.999;0.999	D;D	0.69479	0.939;0.964	T	0.78563	-0.2156	10	0.62326	D	0.03	-11.6593	14.7018	0.69162	0.0:0.1416:0.8584:0.0	.	207;177	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	Y	177;177;207;177	ENSP00000438952:C177Y;ENSP00000440038:C177Y;ENSP00000313886:C207Y;ENSP00000369974:C177Y	ENSP00000313886:C207Y	C	+	2	0	TCEANC	13591078	1.000000	0.71417	0.748000	0.31131	0.896000	0.52359	6.271000	0.72569	2.340000	0.79590	0.600000	0.82982	TGC		PASS	0.428	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634		29	138	29	138	---	---	---	---
CDKL5	6792	broad.mit.edu	37	X	18622327	18622327	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:18622327G>A	ENST00000379989.3	+	13	1568	c.1283G>A	c.(1282-1284)gGc>gAc	p.G428D	CDKL5_ENST00000379996.3_Missense_Mutation_p.G428D|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	428					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)	p.G428D(1)		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)					CCTTCAGAAGGCCCAGGGACA	0.448																																						uc004cym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6						c.(1282-1284)GGC>GAC		cyclin-dependent kinase-like 5							131.0	132.0	132.0					X																	18622327		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:18622327G>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.1283G>A	X.37:g.18622327G>A	ENSP00000369325:p.Gly428Asp					CDKL5_uc004cyn.2_Missense_Mutation_p.G428D	p.G428D	NM_003159	NP_003150	O76039	CDKL5_HUMAN			12	1536	+	Hepatocellular(33;0.183)		428					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1283G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364728	0.61513	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.74106	-0.81;-0.81	6.06	6.06	0.98353	.	0.043072	0.85682	D	0.000000	T	0.78648	0.4316	L	0.29908	0.895	0.40511	D	0.980736	D	0.76494	0.999	D	0.67231	0.95	T	0.81309	-0.0991	10	0.87932	D	0	-19.3549	14.3492	0.66688	0.0:0.0:0.8522:0.1478	.	428	O76039	CDKL5_HUMAN	D	428	ENSP00000369332:G428D;ENSP00000369325:G428D	ENSP00000369325:G428D	G	+	2	0	CDKL5	18532248	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.205000	0.65186	2.560000	0.86352	0.600000	0.82982	GGC		PASS	0.448	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		33	161	33	161	---	---	---	---
CXorf23	256643	broad.mit.edu	37	X	19947938	19947938	+	Missense_Mutation	SNP	G	G	C	rs370505066		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:19947938G>C	ENST00000379682.4	-	10	2104	c.2071C>G	c.(2071-2073)Cat>Gat	p.H691D	CXorf23_ENST00000379687.3_Missense_Mutation_p.H662D|CXorf23_ENST00000356980.3_3'UTR			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	691						mitochondrion (GO:0005739)		p.H662D(1)|p.H256D(1)		endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTGAACTTATGAGTGATAAAT	0.353																																						uc004czp.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1984-1986)CAT>GAT		hypothetical protein LOC256643							122.0	122.0	122.0					X																	19947938		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19947938G>C	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.2071C>G	X.37:g.19947938G>C	ENSP00000369004:p.His691Asp					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Missense_Mutation_p.H641D	p.H662D	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			10	1984	-			691					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1984C>G		.	.	.	.	.	.	.	.	.	.	G	10.15	1.270839	0.23221	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.40476	1.03;1.04	5.52	3.18	0.36537	.	.	.	.	.	T	0.16685	0.0401	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.05419	-1.0886	8	.	.	.	.	6.1734	0.20431	0.0:0.0839:0.1681:0.748	.	662;691	A2AJT9-2;A2AJT9	.;CX023_HUMAN	D	662;691	ENSP00000369009:H662D;ENSP00000369004:H691D	.	H	-	1	0	CXorf23	19857859	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	1.659000	0.37387	0.747000	0.32809	-0.315000	0.08773	CAT		PASS	0.353	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		43	223	43	223	---	---	---	---
KLHL15	80311	broad.mit.edu	37	X	24024735	24024735	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:24024735C>T	ENST00000328046.8	-	3	331	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	26					protein ubiquitination (GO:0016567)			p.E26K(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AATCCCTCCTCATACAGTGCT	0.468																																						uc004dba.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(76-78)GAG>AAG		kelch-like 15							68.0	56.0	60.0					X																	24024735		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024735C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.76G>A	X.37:g.24024735C>T	ENSP00000332791:p.Glu26Lys						p.E26K	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			3	332	-			26					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.76G>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522064	0.27211	.	.	ENSG00000174010	ENST00000328046	T	0.67523	-0.27	5.43	5.43	0.79202	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	N	0.16790	0.44	0.58432	D	0.999999	B	0.30326	0.276	B	0.36186	0.219	T	0.51092	-0.8749	10	0.02654	T	1	.	18.3299	0.90264	0.0:1.0:0.0:0.0	.	26	Q96M94	KLH15_HUMAN	K	26	ENSP00000332791:E26K	ENSP00000332791:E26K	E	-	1	0	KLHL15	23934656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.452000	0.60054	2.267000	0.75376	0.600000	0.82982	GAG		PASS	0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		7	63	7	63	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24761436	24761437	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:24761436_24761437CC>AA	ENST00000379059.3	+	23	2553_2554	c.2538_2539CC>AA	c.(2536-2541)gaCCcc>gaAAcc	p.846_847DP>ET	POLA1_ENST00000379068.3_Missense_Mutation_p.852_853DP>ET|SCARNA23_ENST00000516060.1_RNA	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	846					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|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)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.D846E(1)|p.D846_P847>ET(1)|p.P847T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGGTTTTGGACCCCAAAGTTGG	0.381																																						uc004dbl.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|skin(1)	3						c.(2536-2538)GAC>GAA|c.(2539-2541)CCC>ACC		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)																																			SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24761436C>A|g.chrX:24761437C>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	Exception_encountered	X.37:g.24761436_24761437delinsAA	ENSP00000368349:p.D846_P847delinsET					SCARNA23_uc004dbo.1_5'Flank	p.D846E|p.P847T	NM_016937	NP_058633	P09884	DPOLA_HUMAN			23	2561|2562	+			846|847					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.2538C>A|c.2539C>A	CCDS14214.1																																																																																				PASS	0.381	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		10	51	10	51	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29938208	29938208	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:29938208C>A	ENST00000378993.1	+	8	1727	c.1054C>A	c.(1054-1056)Cga>Aga	p.R352R	IL1RAPL1_ENST00000302196.4_Silent_p.R352R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	352					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R352R(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCTTCATAAACGAGGTGAGTG	0.403																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1054-1056)CGA>AGA		interleukin 1 receptor accessory protein-like 1							110.0	88.0	95.0					X																	29938208		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938208C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1054C>A	X.37:g.29938208C>A							p.R352R	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			8	1562	+			352			Extracellular (Potential).		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1054C>A	CCDS14218.1																																																																																				PASS	0.403	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		21	70	21	70	---	---	---	---
CASK	8573	broad.mit.edu	37	X	41495861	41495861	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:41495861C>T	ENST00000378163.1	-	9	1359	c.885G>A	c.(883-885)ctG>ctA	p.L295L	CASK_ENST00000318588.9_Silent_p.L295L|CASK_ENST00000378166.4_Silent_p.L295L|CASK_ENST00000442742.2_Silent_p.L295L|CASK_ENST00000378158.1_Silent_p.L295L|CASK_ENST00000421587.2_Silent_p.L295L|RN7SL406P_ENST00000582021.1_RNA|CASK_ENST00000378154.1_Silent_p.L295L|CASK_ENST00000361962.4_Silent_p.L295L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	295					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.L295L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGAATTTCCTCAGCTGCTCTA	0.328																																					NSCLC(42;104 1086 3090 27189 35040)	uc004dfl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)	6						c.(883-885)CTG>CTA		calcium/calmodulin-dependent serine protein							193.0	164.0	174.0					X																	41495861		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41495861C>T	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.885G>A	X.37:g.41495861C>T						CASK_uc004dfk.3_Silent_p.L110L|CASK_uc004dfm.3_Silent_p.L295L|CASK_uc004dfn.3_Silent_p.L295L	p.L295L	NM_003688	NP_003679	O14936	CSKP_HUMAN			9	931	-			295					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.885G>A																																																																																					PASS	0.328	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		19	108	19	108	---	---	---	---
ELK1	2002	broad.mit.edu	37	X	47496454	47496454	+	Silent	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:47496454C>T	ENST00000247161.3	-	5	1245	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.L382L|ELK1_ENST00000592066.1_Silent_p.L328L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	382	Sufficient for interaction with MAD2L2.				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)	p.L382L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAATGGGACTCAGGGTGCTCC	0.602																																						uc004dik.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1144-1146)CTG>CTA		ELK1 protein							45.0	43.0	44.0					X																	47496454		2202	4299	6501	SO:0001819	synonymous_variant	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:47496454C>T	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.1146G>A	X.37:g.47496454C>T						ELK1_uc010nhv.2_Silent_p.L382L|ELK1_uc010nhw.2_Silent_p.L272L|ELK1_uc004dil.3_Intron	p.L382L	NM_001114123	NP_001107595	P19419	ELK1_HUMAN			6	1468	-			382			Sufficient for interaction with MAD2L2.		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	c.1146G>A	CCDS14283.1																																																																																				PASS	0.602	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		10	31	10	31	---	---	---	---
SSX4B	548313	broad.mit.edu	37	X	48270302	48270302	+	Missense_Mutation	SNP	G	G	C	rs143022814	byFrequency	TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:48270302G>C	ENST00000376884.2	-	3	132	c.75C>G	c.(73-75)ttC>ttG	p.F25L	SSX4B_ENST00000396928.1_Missense_Mutation_p.F25L	NM_001034832.3	NP_001030004.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4B	25	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.F25L(1)		lung(1)	1						CAATATCATCGAAGGCCTGGA	0.423																																						uc004djh.1										T					SS18		synovial sarcoma	SS18/SSX4(12)	1	Substitution - Missense(1)		lung(1)	soft_tissue(12)	12						c.(73-75)TTC>TTG		synovial sarcoma, X breakpoint 4B isoform a							59.0	66.0	63.0					X																	48270302		2202	4299	6501	SO:0001583	missense	6759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48270302G>C		CCDS35241.1, CCDS43935.1	Xp11.23	2008-02-05			ENSG00000198946	ENSG00000269791			16880	protein-coding gene	gene with protein product							Standard	NM_001034832		Approved	OTTHUMT00000056510	uc004djf.2	O60224	OTTHUMG00000021497	ENST00000376884.2:c.75C>G	X.37:g.48270302G>C	ENSP00000366081:p.Phe25Leu					SSX4_uc004dji.1_Missense_Mutation_p.F25L	p.F25L	NM_001034832	NP_001030004	O60224	SSX4_HUMAN			3	133	-			25			KRAB-related.		A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Missense_Mutation	SNP	ENST00000376884.2	37	c.75C>G	CCDS35241.1	.	.	.	.	.	.	.	.	.	.	N	10.85	1.466819	0.26335	.	.	ENSG00000198946	ENST00000376884;ENST00000396928	T;T	0.01159	5.25;5.25	1.64	-0.399	0.12415	.	0.000000	0.51477	D	0.000090	T	0.04318	0.0119	M	0.92219	3.285	0.09310	N	1	.	.	.	.	.	.	T	0.12578	-1.0542	8	0.72032	D	0.01	.	4.1269	0.10131	0.4398:0.0:0.5602:0.0	.	.	.	.	L	25	ENSP00000366081:F25L;ENSP00000380134:F25L	ENSP00000366081:F25L	F	-	3	2	SSX4B	48155246	0.340000	0.24792	0.001000	0.08648	0.005000	0.04900	0.498000	0.22530	-0.174000	0.10743	-1.808000	0.00615	TTC		PASS	0.423	SSX4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056510.2			20	120	20	120	---	---	---	---
SLC38A5	92745	broad.mit.edu	37	X	48317959	48317959	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:48317959G>T	ENST00000376876.3	-	15	2123	c.1280C>A	c.(1279-1281)tCt>tAt	p.S427Y	SLC38A5_ENST00000317669.5_Missense_Mutation_p.S427Y|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.S376Y			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	427					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)	p.S427Y(2)		breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CTCCACCTCAGAGGGTACAAT	0.567																																						uc010nid.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1279-1281)TCT>TAT		solute carrier family 38, member 5							59.0	49.0	52.0					X																	48317959		2202	4300	6502	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317959G>T	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1280C>A	X.37:g.48317959G>T	ENSP00000366073:p.Ser427Tyr					SLC38A5_uc004djk.3_Missense_Mutation_p.S376Y	p.S427Y	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN			16	1458	-			427			Cytoplasmic (Potential).		B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1280C>A	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	14.80	2.642944	0.47153	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02498	4.27;4.27;4.27	5.28	2.09	0.27110	.	0.906165	0.08968	U	0.867614	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	P	0.42556	0.783	P	0.46419	0.516	T	0.50004	-0.8878	10	0.87932	D	0	.	7.1044	0.25356	0.0:0.2874:0.4321:0.2804	.	427	Q8WUX1	S38A5_HUMAN	Y	427;376;427	ENSP00000366073:S427Y;ENSP00000366071:S376Y;ENSP00000313740:S427Y	ENSP00000313740:S427Y	S	-	2	0	SLC38A5	48202903	0.002000	0.14202	0.480000	0.27341	0.867000	0.49689	1.342000	0.33919	0.981000	0.38548	0.523000	0.50628	TCT		PASS	0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		4	18	4	18	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48652236	48652236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:48652236C>T	ENST00000376670.3	+	6	1018	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	303					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.Q303*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GGATGGTATTCAGACTCGAAA	0.572			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3				Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(907-909)CAG>TAG		GATA binding protein 1							26.0	25.0	25.0					X																	48652236		2203	4299	6502	SO:0001587	stop_gained	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48652236C>T	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.907C>T	X.37:g.48652236C>T	ENSP00000365858:p.Gln303*						p.Q303*	NM_002049	NP_002040	P15976	GATA1_HUMAN			6	998	+			303					Q96GB8	Nonsense_Mutation	SNP	ENST00000376670.3	37	c.907C>T	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	c	37	6.265142	0.97426	.	.	ENSG00000102145	ENST00000376670	.	.	.	4.21	4.21	0.49690	.	0.067657	0.64402	U	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.1583	13.0842	0.59132	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000365858:Q303X	Q	+	1	0	GATA1	48537180	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	7.293000	0.78740	1.941000	0.56285	0.365000	0.22127	CAG		PASS	0.572	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		4	25	4	25	---	---	---	---
BMP15	9210	broad.mit.edu	37	X	50658840	50658840	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:50658840C>T	ENST00000252677.3	+	2	412	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	138			R -> H (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein). {ECO:0000269|PubMed:19263482}.		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)		p.R138C(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGTGGTTTACCGCCATCATCT	0.507																																						uc011mnw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(412-414)CGC>TGC		bone morphogenetic protein 15 precursor							97.0	78.0	85.0					X																	50658840		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:50658840C>T	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.412C>T	X.37:g.50658840C>T	ENSP00000252677:p.Arg138Cys						p.R138C	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	412	+	Ovarian(276;0.236)		138		R -> H (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein).			Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.412C>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	4.992	0.184133	0.09495	.	.	ENSG00000130385	ENST00000252677	T	0.79554	-1.28	4.74	4.74	0.60224	.	0.218444	0.48286	D	0.000199	T	0.77232	0.4100	M	0.73598	2.24	0.33923	D	0.641066	P	0.34546	0.456	B	0.22386	0.039	D	0.84646	0.0698	10	0.48119	T	0.1	.	14.1244	0.65210	0.0:1.0:0.0:0.0	.	138	O95972	BMP15_HUMAN	C	138	ENSP00000252677:R138C	ENSP00000252677:R138C	R	+	1	0	BMP15	50675580	0.000000	0.05858	0.864000	0.33941	0.024000	0.10985	0.301000	0.19174	2.205000	0.71048	0.556000	0.70494	CGC		PASS	0.507	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		21	65	21	65	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54334465	54334465	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:54334465C>T	ENST00000375159.2	-	4	978	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	WNK3_ENST00000375169.3_Missense_Mutation_p.E327K|WNK3_ENST00000354646.2_Missense_Mutation_p.E327K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E327K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTACGGATTCATCATAGTGT	0.403																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(979-981)GAA>AAA		WNK lysine deficient protein kinase 3 isoform 2							165.0	136.0	146.0					X																	54334465		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54334465C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.979G>A	X.37:g.54334465C>T	ENSP00000364301:p.Glu327Lys					WNK3_uc004dtc.1_Missense_Mutation_p.E327K	p.E327K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			5	1418	-			327			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.979G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914843	0.92178	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.64260	-0.09;-0.09;-0.09	5.48	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	0.56097	D	0.000033	T	0.69886	0.3161	L	0.33245	0.995	0.44439	D	0.997364	D;D	0.89917	0.998;1.0	D;D	0.85130	0.98;0.997	T	0.73052	-0.4104	10	0.87932	D	0	-16.7705	13.8361	0.63410	0.1544:0.8456:0.0:0.0	.	327;327	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	327	ENSP00000364312:E327K;ENSP00000346667:E327K;ENSP00000364301:E327K	ENSP00000346667:E327K	E	-	1	0	WNK3	54351190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.692000	0.84203	1.184000	0.42957	0.544000	0.68410	GAA		PASS	0.403	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		20	57	20	57	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935958	57935958	+	Silent	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:57935958G>T	ENST00000358697.4	-	1	1109	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	299	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P299P(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGCATTTGAAGGGCCTCTGGC	0.632																																						uc004dve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(895-897)CCC>CCA		zinc finger, X-linked, duplicated A							15.0	15.0	15.0					X																	57935958		2200	4291	6491	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935958G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.897C>A	X.37:g.57935958G>T							p.P299P	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1110	-			299			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.897C>A	CCDS14376.1																																																																																				PASS	0.632	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		5	21	5	21	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67316832	67316832	+	Silent	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:67316832G>A	ENST00000355520.5	-	19	2207	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	OPHN1_ENST00000540071.1_Silent_p.S522S|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	522	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.S522S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTCCCATGTTGGAGGGGGTCA	0.473																																						uc004dww.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1564-1566)TCC>TCT		oligophrenin 1							89.0	71.0	77.0					X																	67316832		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67316832G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1566C>T	X.37:g.67316832G>A						OPHN1_uc011mpg.1_Silent_p.S522S	p.S522S	NM_002547	NP_002538	O60890	OPHN1_HUMAN			19	1860	-			522			Rho-GAP.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.1566C>T	CCDS14388.1																																																																																				PASS	0.473	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		20	70	20	70	---	---	---	---
ARR3	407	broad.mit.edu	37	X	69498434	69498434	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:69498434G>T	ENST00000307959.8	+	12	899	c.848G>T	c.(847-849)gGc>gTc	p.G283V	ARR3_ENST00000374495.3_Missense_Mutation_p.G283V	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	283					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)		p.G283V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CAGAAACGGGGCCTGGCACTG	0.498																																						uc004dyb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(847-849)GGC>GTC		arrestin 3, retinal (X-arrestin)							78.0	69.0	72.0					X																	69498434		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69498434G>T		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.848G>T	X.37:g.69498434G>T	ENSP00000311538:p.Gly283Val					ARR3_uc004dya.2_Missense_Mutation_p.G283V	p.G283V	NM_004312	NP_004303	P36575	ARRC_HUMAN			12	916	+			283					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.848G>T	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113480	0.77210	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16597	2.33;2.73	3.92	3.92	0.45320	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68880	-0.5292	10	0.87932	D	0	.	14.5192	0.67840	0.0:0.0:1.0:0.0	.	283;283	P36575;P36575-2	ARRC_HUMAN;.	V	283	ENSP00000363619:G283V;ENSP00000311538:G283V	ENSP00000311538:G283V	G	+	2	0	ARR3	69415159	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.881000	0.92415	1.678000	0.50952	0.513000	0.50165	GGC		PASS	0.498	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		9	58	9	58	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69561721	69561721	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:69561721A>T	ENST00000374403.3	+	11	1288	c.1206A>T	c.(1204-1206)ttA>ttT	p.L402F	KIF4A_ENST00000374388.3_Missense_Mutation_p.L402F	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	402					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)	p.L402F(1)		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						ATGAAAAATTAAGTCGTGGTC	0.413																																						uc004dyg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1204-1206)TTA>TTT		kinesin family member 4							94.0	90.0	92.0					X																	69561721		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:69561721A>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.1206A>T	X.37:g.69561721A>T	ENSP00000363524:p.Leu402Phe					KIF4A_uc010nkw.2_Missense_Mutation_p.L402F|KIF4A_uc004dyf.1_Missense_Mutation_p.L402F	p.L402F	NM_012310	NP_036442	O95239	KIF4A_HUMAN			11	1333	+			402			Potential.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.1206A>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747257	0.69418	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.71934	-0.61;-0.61	4.8	2.35	0.29111	.	0.000000	0.43416	D	0.000563	T	0.80144	0.4569	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.77230	-0.2664	10	0.87932	D	0	.	2.3076	0.04178	0.4521:0.2814:0.2665:0.0	.	402;402	O95239;O95239-2	KIF4A_HUMAN;.	F	402	ENSP00000363509:L402F;ENSP00000363524:L402F	ENSP00000363509:L402F	L	+	3	2	KIF4A	69478446	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.251000	0.32862	0.647000	0.30713	0.417000	0.27973	TTA		PASS	0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		21	125	21	125	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472625	70472625	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:70472625C>T	ENST00000353904.2	-	2	668	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ZMYM3_ENST00000373988.1_Missense_Mutation_p.E161K|ZMYM3_ENST00000373978.1_Missense_Mutation_p.E161K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.E161K|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E161K|ZMYM3_ENST00000373981.1_Missense_Mutation_p.E161K|ZMYM3_ENST00000373982.1_Missense_Mutation_p.E161K|ZMYM3_ENST00000373984.3_Missense_Mutation_p.E161K	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	161					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)	p.E161K(1)		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)					GAGGTGGTCTCCTCCTCTTCA	0.587																																						uc004dzh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)GAG>AAG		zinc finger protein 261							51.0	41.0	44.0					X																	70472625		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472625C>T	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.481G>A	X.37:g.70472625C>T	ENSP00000343909:p.Glu161Lys					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E161K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E161K|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.E161K|ZMYM3_uc004dzl.3_Missense_Mutation_p.E161K|ZMYM3_uc004dzm.3_Missense_Mutation_p.E161K	p.E161K	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	568	-	Renal(35;0.156)		161					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.481G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	4.321	0.058829	0.08339	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	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	4.93	4.93	0.64822	.	9.466280	0.00397	N	0.000057	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B;P;B	0.36535	0.308;0.557;0.198	B;B;B	0.30646	0.101;0.118;0.055	T	0.28170	-1.0052	10	0.02654	T	1	-3.8866	12.0615	0.53564	0.0:0.8302:0.1698:0.0	.	161;161;161	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	K	161	ENSP00000322845:E161K;ENSP00000363110:E161K;ENSP00000343909:E161K;ENSP00000363096:E161K;ENSP00000363100:E161K;ENSP00000363094:E161K;ENSP00000363093:E161K;ENSP00000363090:E161K	ENSP00000322845:E161K	E	-	1	0	ZMYM3	70389350	0.959000	0.32827	0.826000	0.32828	0.132000	0.20833	0.907000	0.28531	2.020000	0.59435	0.431000	0.28591	GAG		PASS	0.587	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		15	49	15	49	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84525778	84525778	+	Missense_Mutation	SNP	G	G	C	rs200444579		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:84525778G>C	ENST00000373165.3	+	9	1536	c.1230G>C	c.(1228-1230)atG>atC	p.M410I	ZNF711_ENST00000542798.1_Missense_Mutation_p.M252I|ZNF711_ENST00000276123.3_Missense_Mutation_p.M410I|ZNF711_ENST00000360700.4_Missense_Mutation_p.M456I|ZNF711_ENST00000395402.1_Missense_Mutation_p.M418I	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	410					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.M410I(1)|p.M420I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATCATTTAATGAGAAAAAAAT	0.358																																						uc004eeo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(1228-1230)ATG>ATC		zinc finger protein 711							35.0	30.0	31.0					X																	84525778		2202	4296	6498	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84525778G>C	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1230G>C	X.37:g.84525778G>C	ENSP00000362260:p.Met410Ile					ZNF711_uc004eep.2_Missense_Mutation_p.M410I|ZNF711_uc004eeq.2_Missense_Mutation_p.M456I|ZNF711_uc011mqy.1_Missense_Mutation_p.M9I	p.M410I	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	1577	+			410					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1230G>C	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	2.811	-0.246963	0.05867	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.06218	3.37;3.36;3.36;3.38;3.33	5.39	2.4	0.29515	Zinc finger, C2H2 (1);	0.284110	0.25296	N	0.031691	T	0.03520	0.0101	N	0.20986	0.625	0.30750	N	0.745187	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34378	-0.9831	10	0.18276	T	0.48	-5.6544	3.4641	0.07544	0.0818:0.1786:0.3645:0.3751	.	456;410	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	I	418;410;410;456;252	ENSP00000378798:M418I;ENSP00000362260:M410I;ENSP00000276123:M410I;ENSP00000353922:M456I;ENSP00000442071:M252I	ENSP00000276123:M410I	M	+	3	0	ZNF711	84412434	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.362000	0.34148	0.456000	0.26937	0.513000	0.50165	ATG		PASS	0.358	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		9	35	9	35	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84526676	84526676	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:84526676G>A	ENST00000373165.3	+	9	2434	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	ZNF711_ENST00000542798.1_Missense_Mutation_p.E552K|ZNF711_ENST00000276123.3_Missense_Mutation_p.E710K|ZNF711_ENST00000360700.4_Missense_Mutation_p.E756K|ZNF711_ENST00000395402.1_Missense_Mutation_p.E718K	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	710					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E720K(1)|p.E710K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGAGTATTGTGAATACAGCAC	0.378																																						uc004eeo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(2128-2130)GAA>AAA		zinc finger protein 711							124.0	106.0	112.0					X																	84526676		2202	4299	6501	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526676G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.2128G>A	X.37:g.84526676G>A	ENSP00000362260:p.Glu710Lys					ZNF711_uc004eep.2_Missense_Mutation_p.E710K|ZNF711_uc004eeq.2_Missense_Mutation_p.E756K|ZNF711_uc011mqy.1_Missense_Mutation_p.E309K	p.E710K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	2475	+			710			C2H2-type 11.		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.2128G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838949	0.71373	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.153198	0.29775	N	0.011235	T	0.20414	0.0491	L	0.48260	1.515	0.80722	D	1	P;P	0.46142	0.873;0.762	B;B	0.42245	0.291;0.381	T	0.01899	-1.1251	10	0.46703	T	0.11	-16.5485	17.4424	0.87568	0.0:0.0:1.0:0.0	.	756;710	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	K	718;710;710;756;552	ENSP00000378798:E718K;ENSP00000362260:E710K;ENSP00000276123:E710K;ENSP00000353922:E756K;ENSP00000442071:E552K	ENSP00000276123:E710K	E	+	1	0	ZNF711	84413332	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.132000	0.65825	0.506000	0.49869	GAA		PASS	0.378	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		25	97	25	97	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101908955	101908955	+	Silent	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:101908955C>A	ENST00000361600.5	+	5	915	c.114C>A	c.(112-114)ccC>ccA	p.P38P	GPRASP1_ENST00000444152.1_Silent_p.P38P|GPRASP1_ENST00000537097.1_Silent_p.P38P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.P38P	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	38					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.P38P(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGTCAGACCCAAGGTTAGGA	0.537																																						uc004ejj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)	2						c.(112-114)CCC>CCA		G protein-coupled receptor associated sorting							137.0	135.0	136.0					X																	101908955		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101908955C>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.114C>A	X.37:g.101908955C>A						GPRASP1_uc004eji.3_Silent_p.P38P|GPRASP1_uc010nod.2_Silent_p.P38P	p.P38P	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	915	+			38					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.114C>A	CCDS35352.1																																																																																				PASS	0.537	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		38	242	38	242	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110951368	110951368	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:110951368C>A	ENST00000394780.3	+	4	509	c.497C>A	c.(496-498)tCc>tAc	p.S166Y	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.S62Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	166	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.S62Y(1)|p.S166Y(1)		endometrium(2)|lung(10)|skin(1)	13						GGGCTGCTTTCCGGATACCTG	0.537																																						uc011msy.1																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(496-498)TCC>TAC		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							115.0	94.0	101.0					X																	110951368		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951368C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.497C>A	X.37:g.110951368C>A	ENSP00000378260:p.Ser166Tyr					ALG13_uc011msw.1_Missense_Mutation_p.S88Y|ALG13_uc011msx.1_Missense_Mutation_p.S62Y|ALG13_uc011msz.1_Missense_Mutation_p.S88Y|ALG13_uc011mta.1_Missense_Mutation_p.S62Y|ALG13_uc011mtb.1_Missense_Mutation_p.S62Y	p.S166Y			Q9NP73	ALG13_HUMAN			4	531	+			166					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.497C>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033964	0.75504	.	.	ENSG00000101901	ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T	0.80480	1.37;-1.38;0.4;1.35	4.49	4.49	0.54785	.	.	.	.	.	T	0.76737	0.4029	N	0.08118	0	0.23773	N	0.996883	D;D;D	0.58620	0.983;0.971;0.969	P;P;P	0.57620	0.824;0.671;0.824	T	0.70813	-0.4770	9	0.87932	D	0	.	13.9491	0.64104	0.0:1.0:0.0:0.0	.	88;166;62	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	62;166;166;62	ENSP00000251943:S62Y;ENSP00000426892:S166Y;ENSP00000378260:S166Y;ENSP00000427093:S62Y	ENSP00000251943:S62Y	S	+	2	0	ALG13	110838024	0.475000	0.25894	0.946000	0.38457	0.940000	0.58332	1.939000	0.40213	2.189000	0.69895	0.600000	0.82982	TCC		PASS	0.537	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		14	56	14	56	---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698022	111698022	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:111698022T>A	ENST00000340433.2	+	1	296	c.66T>A	c.(64-66)aaT>aaA	p.N22K		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	22							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N22K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCAGAGAATCTGATTCTGC	0.498																																						uc004epo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)AAT>AAA		zinc finger, CCHC domain containing 16							105.0	86.0	92.0					X																	111698022		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698022T>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.66T>A	X.37:g.111698022T>A	ENSP00000340590:p.Asn22Lys						p.N22K	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	507	+			22					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.66T>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.521130	0.27211	.	.	ENSG00000187823	ENST00000340433	T	0.39056	1.1	4.19	1.83	0.25207	.	0.000000	0.37530	N	0.002046	T	0.39489	0.1080	L	0.34521	1.04	0.09310	N	1	D	0.63046	0.992	P	0.58391	0.838	T	0.15235	-1.0444	10	0.29301	T	0.29	-7.2106	4.9318	0.13921	0.0:0.2535:0.0:0.7465	.	22	Q6ZR62	ZCH16_HUMAN	K	22	ENSP00000340590:N22K	ENSP00000340590:N22K	N	+	3	2	ZCCHC16	111584678	0.354000	0.24912	0.003000	0.11579	0.137000	0.21094	0.974000	0.29436	0.266000	0.21894	0.486000	0.48141	AAT		PASS	0.498	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		26	117	26	117	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117749672	117749672	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:117749672A>C	ENST00000276202.7	+	30	3353	c.3290A>C	c.(3289-3291)cAa>cCa	p.Q1097P	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q1097P	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1097					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1097P(1)		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						CAGCGGGTTCAAGGCATGTAT	0.363																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3289-3291)CAA>CCA		dedicator of cytokinesis 11							104.0	76.0	86.0					X																	117749672		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117749672A>C	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.3290A>C	X.37:g.117749672A>C	ENSP00000276202:p.Gln1097Pro					DOCK11_uc004eqq.2_Missense_Mutation_p.Q863P	p.Q1097P	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			30	3353	+			1097					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3290A>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311325	0.40895	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.96334	-3.98;-3.98	5.5	5.5	0.81552	.	0.198743	0.43260	D	0.000592	D	0.94135	0.8119	L	0.58969	1.84	0.80722	D	1	B;B	0.28419	0.211;0.211	B;B	0.29267	0.1;0.1	D	0.92271	0.5825	10	0.12103	T	0.63	-8.9191	14.8206	0.70070	1.0:0.0:0.0:0.0	.	1097;1097	A6NIW2;Q5JSL3	.;DOC11_HUMAN	P	1097	ENSP00000276204:Q1097P;ENSP00000276202:Q1097P	ENSP00000276202:Q1097P	Q	+	2	0	DOCK11	117633700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.677000	0.91203	1.950000	0.56595	0.441000	0.28932	CAA		PASS	0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		9	37	9	37	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222335	118222335	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:118222335G>T	ENST00000402510.2	-	11	2857	c.2858C>A	c.(2857-2859)cCa>cAa	p.P953Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	953								p.P777Q(1)|p.P953Q(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						GTTCACCCATGGCTGGAAAGG	0.483																																						uc004era.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(2857-2859)CCA>CAA		hypothetical protein LOC57481							79.0	67.0	71.0					X																	118222335		1904	4121	6025	SO:0001583	missense	57481							g.chrX:118222335G>T	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.2858C>A	X.37:g.118222335G>T	ENSP00000384670:p.Pro953Gln						p.P953Q	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	2858	-			953					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2858C>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025150	0.35701	.	.	ENSG00000250423	ENST00000402510	T	0.12879	2.64	4.27	-0.605	0.11623	.	.	.	.	.	T	0.09423	0.0232	L	0.38175	1.15	0.09310	N	1	P	0.47677	0.899	B	0.42593	0.392	T	0.18116	-1.0347	9	0.52906	T	0.07	.	1.342	0.02156	0.1963:0.3124:0.3287:0.1626	.	953	Q9ULL0	K1210_HUMAN	Q	953	ENSP00000384670:P953Q	ENSP00000384670:P953Q	P	-	2	0	RP13-347D8.6	118106363	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.979000	0.29500	-0.281000	0.09141	-1.933000	0.00509	CCA		PASS	0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		14	62	14	62	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122598715	122598715	+	Splice_Site	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:122598715G>A	ENST00000371251.1	+	13	2128		c.e13-1		GRIA3_ENST00000542149.1_Splice_Site|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTTTGGTGCAGAGATCCAAAA	0.418																																						uc004etq.3																			3	Unknown(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.e14-1		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						62.0	63.0	63.0					X																	122598715		2203	4300	6503	SO:0001630	splice_region_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598715G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2077-1G>A	X.37:g.122598715G>A						GRIA3_uc004etr.3_Splice_Site_p.R693_splice|GRIA3_uc004ets.3_Splice_Site	p.R693_splice	NM_007325	NP_015564	P42263	GRIA3_HUMAN			14	2370	+								D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	ENST00000371251.1	37	c.2077_splice	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551886	0.65311	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5308	0.84357	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122426396	1.000000	0.71417	0.998000	0.56505	0.736000	0.42039	9.864000	0.99589	2.104000	0.64026	0.415000	0.27848	.		PASS	0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	Intron	17	131	17	131	---	---	---	---
FAM127B	26071	broad.mit.edu	37	X	134186115	134186115	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:134186115C>T	ENST00000370775.2	-	1	90	c.24G>A	c.(22-24)atG>atA	p.M8I	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	8								p.M8I(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGCCTTCATCAGCTGCA	0.706																																						uc004eyf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(22-24)ATG>ATA		family with sequence similarity 127, member B							41.0	44.0	43.0					X																	134186115		1943	4104	6047	SO:0001583	missense	26071							g.chrX:134186115C>T	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.24G>A	X.37:g.134186115C>T	ENSP00000375267:p.Met8Ile					FAM127B_uc004eyg.3_Missense_Mutation_p.M8I	p.M8I	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN			1	107	-	Acute lymphoblastic leukemia(192;0.000127)		8					A2A2V9|Q8TBU2	Missense_Mutation	SNP	ENST00000370775.2	37	c.24G>A	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023714	0.08006	.	.	ENSG00000203950	ENST00000370775	T	0.29397	1.57	2.38	1.51	0.23008	.	.	.	.	.	T	0.11410	0.0278	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35919	-0.9769	9	0.09084	T	0.74	.	6.1142	0.20117	0.0:0.5963:0.4037:0.0	.	6;8	Q6IPB9;Q9BWD3	.;F127B_HUMAN	I	8	ENSP00000375267:M8I	ENSP00000375267:M8I	M	-	3	0	FAM127B	134013781	0.961000	0.32948	0.288000	0.24862	0.045000	0.14185	-0.312000	0.08113	0.433000	0.26313	0.292000	0.19580	ATG		PASS	0.706	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2	NM_001078172		6	54	6	54	---	---	---	---
SLC9A6	10479	broad.mit.edu	37	X	135080640	135080640	+	Splice_Site	SNP	G	G	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:135080640G>A	ENST00000370698.3	+	4	542		c.e4-1		SLC9A6_ENST00000370695.4_Splice_Site|SLC9A6_ENST00000370701.1_Splice_Site	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6						axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTTTTGTCAGAGACATTTTT	0.299																																						uc004ezj.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e4-1		solute carrier family 9 (sodium/hydrogen							41.0	41.0	41.0					X																	135080640		2203	4287	6490	SO:0001630	splice_region_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135080640G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.508-1G>A	X.37:g.135080640G>A						SLC9A6_uc004ezk.2_Splice_Site_p.R202_splice|SLC9A6_uc011mvx.1_Splice_Site_p.R150_splice	p.R170_splice	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			4	584	+	Acute lymphoblastic leukemia(192;0.000127)							A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Splice_Site	SNP	ENST00000370698.3	37	c.508_splice	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794694	0.31777	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4654	0.84077	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A6	134908306	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	9.416000	0.97383	2.088000	0.63022	0.422000	0.28245	.		PASS	0.299	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	Intron	7	81	7	81	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135312673	135312673	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:135312673T>C	ENST00000316077.9	-	10	1841	c.1621A>G	c.(1621-1623)Aaa>Gaa	p.K541E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.K506E|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.K523E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	541					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K838E(1)		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)					GGCATTATTTTATAAGGAAAA	0.373																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1621-1623)AAA>GAA		MAP7 domain containing 3							142.0	132.0	135.0					X																	135312673		1835	4080	5915	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135312673T>C	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.1621A>G	X.37:g.135312673T>C	ENSP00000318086:p.Lys541Glu					MAP7D3_uc004ezs.2_Missense_Mutation_p.K505E|MAP7D3_uc011mwc.1_Missense_Mutation_p.K523E|MAP7D3_uc010nsa.1_Missense_Mutation_p.K499E	p.K541E	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			10	1712	-	Acute lymphoblastic leukemia(192;0.000127)		541					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1621A>G	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.835101	0.50951	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04156	4.34;3.7;3.7;3.69	4.96	2.43	0.29744	.	1.279940	0.05816	N	0.614916	T	0.13841	0.0335	L	0.42245	1.32	0.09310	N	1	D;D;D;D	0.76494	0.999;0.997;0.999;0.999	D;D;D;D	0.69479	0.921;0.942;0.921;0.964	T	0.25467	-1.0131	10	0.66056	D	0.02	-8.3521	6.5156	0.22246	0.0:0.0861:0.1538:0.7601	.	523;500;541;506	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	506;541;523;500	ENSP00000359695:K506E;ENSP00000318086:K541E;ENSP00000359697:K523E;ENSP00000359694:K500E	ENSP00000318086:K541E	K	-	1	0	MAP7D3	135140339	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.562000	0.23531	0.250000	0.21479	0.451000	0.29950	AAA		PASS	0.373	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			34	173	34	173	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037466	148037466	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:148037466C>A	ENST00000370460.2	+	11	2370	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	AFF2_ENST00000370457.5_Missense_Mutation_p.P598T|AFF2_ENST00000286437.5_Missense_Mutation_p.P272T|AFF2_ENST00000342251.3_Missense_Mutation_p.P598T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	631					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.P631T(2)|p.P272T(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)					GAAAAAACAGCCCAAAAAAGT	0.433																																						uc004fcp.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)	5						c.(1891-1893)CCC>ACC		fragile X mental retardation 2							93.0	99.0	97.0					X																	148037466		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:148037466C>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.1891C>A	X.37:g.148037466C>A	ENSP00000359489:p.Pro631Thr					AFF2_uc004fcq.2_Missense_Mutation_p.P621T|AFF2_uc004fcr.2_Missense_Mutation_p.P592T|AFF2_uc011mxb.1_Missense_Mutation_p.P596T|AFF2_uc004fcs.2_Missense_Mutation_p.P598T|AFF2_uc011mxc.1_Missense_Mutation_p.P272T	p.P631T	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2370	+	Acute lymphoblastic leukemia(192;6.56e-05)		631					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1891C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370710	0.24771	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.5	4.64	0.57946	.	0.056934	0.64402	D	0.000001	T	0.71745	0.3376	L	0.53671	1.685	0.54753	D	0.999989	P;P;P;P;P;P	0.47604	0.898;0.876;0.876;0.876;0.876;0.898	P;P;P;P;P;P	0.54372	0.75;0.508;0.508;0.508;0.634;0.75	T	0.69060	-0.5245	10	0.32370	T	0.25	.	13.3951	0.60846	0.0:0.9224:0.0:0.0776	.	272;596;598;592;621;631	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	631;598;598;272	ENSP00000359489:P631T;ENSP00000359486:P598T;ENSP00000345459:P598T;ENSP00000286437:P272T	ENSP00000286437:P272T	P	+	1	0	AFF2	147845166	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	5.151000	0.64875	1.089000	0.41292	0.556000	0.70494	CCC		PASS	0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		23	129	23	129	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638334	149638334	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:149638334T>A	ENST00000370401.2	+	4	799	c.489T>A	c.(487-489)taT>taA	p.Y163*	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Y163*|MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Y138*|MAMLD1_ENST00000432680.2_Nonsense_Mutation_p.Y138*|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	163					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Y90*(1)|p.Y138*(1)|p.Y163*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTTACTATGAGAAAATCA	0.478																																						uc004fee.1																			3	Substitution - Nonsense(3)		lung(3)		0						c.(487-489)TAT>TAA		mastermind-like domain containing 1							62.0	60.0	61.0					X																	149638334		2203	4300	6503	SO:0001587	stop_gained	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638334T>A	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.489T>A	X.37:g.149638334T>A	ENSP00000359428:p.Tyr163*					MAMLD1_uc011mxt.1_Nonsense_Mutation_p.Y125*|MAMLD1_uc011mxu.1_Nonsense_Mutation_p.Y138*|MAMLD1_uc011mxv.1_Nonsense_Mutation_p.Y138*|MAMLD1_uc011mxw.1_Nonsense_Mutation_p.Y90*	p.Y163*	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	565	+	Acute lymphoblastic leukemia(192;6.56e-05)		163					B2RCQ4|B4DG93|B9EGA5	Nonsense_Mutation	SNP	ENST00000370401.2	37	c.489T>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088715	0.36855	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	.	.	.	5.36	2.79	0.32731	.	0.466636	0.21021	N	0.081511	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.807	3.6196	0.08090	0.1636:0.3033:0.0:0.5331	.	.	.	.	X	125;163;138;163;138	.	ENSP00000262858:Y163X	Y	+	3	2	MAMLD1	149388992	0.767000	0.28508	0.997000	0.53966	0.114000	0.19823	-0.354000	0.07681	0.556000	0.29098	0.486000	0.48141	TAT		PASS	0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		26	85	26	85	---	---	---	---
HCFC1	3054	broad.mit.edu	37	X	153220573	153220573	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:153220573T>A	ENST00000310441.7	-	17	4243	c.3277A>T	c.(3277-3279)Acc>Tcc	p.T1093S	HCFC1_ENST00000369984.4_Missense_Mutation_p.T1093S|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1024S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1093					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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 coactivator activity (GO:0003713)	p.T1093S(1)|p.T996S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gaggtggcggtggtggcggtg	0.647																																						uc004fjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(3277-3279)ACC>TCC		host cell factor 1							35.0	43.0	41.0					X																	153220573		2170	4260	6430	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153220573T>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3277A>T	X.37:g.153220573T>A	ENSP00000309555:p.Thr1093Ser						p.T1093S	NM_005334	NP_005325	P51610	HCFC1_HUMAN			17	3805	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1093	T->A: Inactivates cleavage at HCF repeat.		HCF repeat 2.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.3277A>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	t	16.45	3.126443	0.56721	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03441	3.93;3.96;3.95	4.9	4.9	0.64082	.	0.105856	0.64402	D	0.000005	T	0.05318	0.0141	L	0.49126	1.545	0.30001	N	0.815987	B	0.31318	0.319	B	0.32465	0.146	T	0.09250	-1.0683	10	0.28530	T	0.3	.	12.6586	0.56801	0.0:0.0:0.0:1.0	.	1093	P51610	HCFC1_HUMAN	S	1093;1093;1024	ENSP00000309555:T1093S;ENSP00000359001:T1093S;ENSP00000346174:T1024S	ENSP00000309555:T1093S	T	-	1	0	HCFC1	152873767	1.000000	0.71417	0.988000	0.46212	0.927000	0.56198	3.613000	0.54152	1.625000	0.50366	0.427000	0.28365	ACC		PASS	0.647	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		10	23	10	23	---	---	---	---
LAGE3	8270	broad.mit.edu	37	X	153706634	153706634	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:153706634C>T	ENST00000357360.4	-	2	646	c.305G>A	c.(304-306)aGg>aAg	p.R102K	LAGE3_ENST00000407062.1_Missense_Mutation_p.R102K	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	102					tRNA processing (GO:0008033)	nucleus (GO:0005634)		p.R102K(1)		lung(2)	2	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)					GACCAGGATCCTGCCACTCAC	0.627																																						uc004fln.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)AGG>AAG		L antigen family, member 3							82.0	68.0	72.0					X																	153706634		2203	4300	6503	SO:0001583	missense	8270						protein binding	g.chrX:153706634C>T	X92896	CCDS14753.1	Xq28	2011-08-12			ENSG00000196976	ENSG00000196976			26058	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9879 expressed sequence"""	300060				8786131	Standard	NM_006014		Approved	ITBA2, CVG5, DXS9951E, DXS9879E, ESO3	uc004fln.1	Q14657	OTTHUMG00000033294	ENST00000357360.4:c.305G>A	X.37:g.153706634C>T	ENSP00000349923:p.Arg102Lys						p.R102K	NM_006014	NP_006005	Q14657	LAGE3_HUMAN			2	647	-	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)		102					Q5HY39|Q8IZ78	Missense_Mutation	SNP	ENST00000357360.4	37	c.305G>A	CCDS14753.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078601	0.36662	.	.	ENSG00000196976	ENST00000407062;ENST00000357360	T;T	0.28895	1.59;1.59	4.14	0.296	0.15757	.	0.847102	0.10063	N	0.720602	T	0.20414	0.0491	L	0.38175	1.15	0.09310	N	1	B	0.31485	0.325	B	0.32090	0.14	T	0.25537	-1.0129	10	0.28530	T	0.3	-23.1536	4.4406	0.11572	0.0:0.3786:0.3936:0.2279	.	102	Q14657	LAGE3_HUMAN	K	102	ENSP00000383988:R102K;ENSP00000349923:R102K	ENSP00000349923:R102K	R	-	2	0	LAGE3	153359828	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.179000	0.09768	-0.074000	0.12820	-0.297000	0.09499	AGG		PASS	0.627	LAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081651.2	NM_006014		11	112	11	112	---	---	---	---
LAGE3	8270	broad.mit.edu	37	X	153706719	153706719	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chrX:153706719C>T	ENST00000357360.4	-	2	561	c.220G>A	c.(220-222)Gag>Aag	p.E74K	LAGE3_ENST00000407062.1_Missense_Mutation_p.E74K	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	74					tRNA processing (GO:0008033)	nucleus (GO:0005634)		p.E74K(1)		lung(2)	2	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)					ATTTCCGCCTCCAAGGGGGTC	0.592																																						uc004fln.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)GAG>AAG		L antigen family, member 3							57.0	52.0	54.0					X																	153706719		2203	4300	6503	SO:0001583	missense	8270						protein binding	g.chrX:153706719C>T	X92896	CCDS14753.1	Xq28	2011-08-12			ENSG00000196976	ENSG00000196976			26058	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9879 expressed sequence"""	300060				8786131	Standard	NM_006014		Approved	ITBA2, CVG5, DXS9951E, DXS9879E, ESO3	uc004fln.1	Q14657	OTTHUMG00000033294	ENST00000357360.4:c.220G>A	X.37:g.153706719C>T	ENSP00000349923:p.Glu74Lys						p.E74K	NM_006014	NP_006005	Q14657	LAGE3_HUMAN			2	562	-	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)		74					Q5HY39|Q8IZ78	Missense_Mutation	SNP	ENST00000357360.4	37	c.220G>A	CCDS14753.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132324	0.77662	.	.	ENSG00000196976	ENST00000407062;ENST00000357360	T;T	0.32023	1.47;1.47	4.03	4.03	0.46877	.	0.422516	0.17821	N	0.160855	T	0.55449	0.1921	M	0.85299	2.745	0.09310	N	0.999999	D	0.76494	0.999	D	0.70487	0.969	T	0.46679	-0.9174	10	0.45353	T	0.12	-45.2856	10.6326	0.45545	0.0:1.0:0.0:0.0	.	74	Q14657	LAGE3_HUMAN	K	74	ENSP00000383988:E74K;ENSP00000349923:E74K	ENSP00000349923:E74K	E	-	1	0	LAGE3	153359913	0.540000	0.26410	0.063000	0.19743	0.039000	0.13416	0.851000	0.27751	2.271000	0.75665	0.529000	0.55759	GAG		PASS	0.592	LAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081651.2	NM_006014		7	118	7	118	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39222389	39222390	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:39222389_39222390delTC	ENST00000426016.1	-	21	3306_3307	c.3220_3221delGA	c.(3220-3222)gaafs	p.E1074fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.E1074fs|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000402219.2_Frame_Shift_Del_p.E1074fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1074					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)				TGCTGTACTTTCTGTTTCACTT	0.475									Noonan syndrome																													uc002rrk.3																			0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(3220-3222)GAAfs		son of sevenless homolog 1																																				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.chr2:39222389_39222390delTC	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.3220_3221delGA	2.37:g.39222389_39222390delTC	ENSP00000387784:p.Glu1074fs					SOS1_uc002rrj.3_Frame_Shift_Del_p.E688fs	p.E1074fs	NM_005633	NP_005624	Q07889	SOS1_HUMAN			20	3261_3262	-		all_hematologic(82;0.21)	1074					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3220_3221delGA	CCDS1802.1																																																																																					0.475	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		129	77	129	77	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128366337	128366337	+	Frame_Shift_Del	DEL	A	A	-			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:128366337delA	ENST00000409816.2	+	21	2730	c.2698delA	c.(2698-2700)aagfs	p.K901fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.K901fs|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.K901fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	901						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)		TCTCCCTGCCAAGAAGCGCAG	0.652																																						uc002top.2																			0				ovary(1)|pancreas(1)	2						c.(2698-2700)AAGfs		myosin VIIB							38.0	45.0	43.0					2																	128366337		2102	4206	6308	SO:0001589	frameshift_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366337delA		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.2698delA	2.37:g.128366337delA	ENSP00000386461:p.Lys901fs						p.K900fs	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	22	2751	+	Colorectal(110;0.1)		900					Q14786|Q8TEE1	Frame_Shift_Del	DEL	ENST00000409816.2	37	c.2698delA	CCDS46405.1																																																																																					0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		28	18	28	18	---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242176058	242176059	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr2:242176058_242176059delTT	ENST00000391975.1	-	21	3102_3103	c.2875_2876delAA	c.(2875-2877)aagfs	p.K959fs	HDLBP_ENST00000427183.2_Frame_Shift_Del_p.K926fs|HDLBP_ENST00000391976.2_Frame_Shift_Del_p.K959fs|HDLBP_ENST00000310931.4_Frame_Shift_Del_p.K959fs	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	959	KH 11. {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)		AGCCTCACACTTTTCTTTCCGG	0.614																																						uc002waz.2																			0				breast(3)|skin(1)	4						c.(2875-2877)AAGfs		high density lipoprotein binding protein																																				SO:0001589	frameshift_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242176058_242176059delTT		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.2875_2876delAA	2.37:g.242176060_242176061delTT	ENSP00000375836:p.Lys959fs					HDLBP_uc002wba.2_Frame_Shift_Del_p.K959fs|HDLBP_uc002wbb.2_Frame_Shift_Del_p.K911fs	p.K959fs	NM_203346	NP_976221	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)	21	3103_3104	-		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)	959			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Frame_Shift_Del	DEL	ENST00000391975.1	37	c.2875_2876delAA	CCDS2547.1																																																																																					0.614	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		67	57	67	57	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-39-5031-01A-01D-1441-08	TCGA-39-5031-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3eab4096-8e8e-459d-a2bb-6ef03f414315	b4d9f9a2-e65f-443b-866c-50bb8e491be7	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_Splice_Site|RECQL5_ENST00000423245.2_Splice_Site	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																														uc010dgl.2																			1	Unknown(1)		upper_aerodigestive_tract(1)	kidney(3)	3						c.e12-1	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1																																				SO:0001630	splice_region_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73626918_73626919insTG	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG						RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.D529_splice	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1742	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)							Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	c.1586_splice	CCDS42380.1																																																																																					0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	Intron	3	6	3	6	---	---	---	---
