#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
SLC35E2	9906	broad.mit.edu	37	1	1666215	1666215	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:1666215C>A	ENST00000246421.4	-	5	1061	c.646G>T	c.(646-648)Gct>Tct	p.A216S	RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000355439.2_Missense_Mutation_p.A216S|SLC35E2_ENST00000400924.1_Missense_Mutation_p.A216S|SLC35E2_ENST00000475229.1_5'UTR	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	216						integral component of membrane (GO:0016021)		p.A216S(1)		endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAGAAGCAGCAGCACCACGT	0.547																																						uc001aib.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(646-648)GCT>TCT		solute carrier family 35, member E2							90.0	53.0	66.0					1																	1666215		2203	4300	6503	SO:0001583	missense	9906					integral to membrane		g.chr1:1666215C>A	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.646G>T	1.37:g.1666215C>A	ENSP00000246421:p.Ala216Ser					SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Missense_Mutation_p.A216S|SLC35E2_uc001ahz.2_Missense_Mutation_p.A216S	p.A216S	NM_182838	NP_878258	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	1062	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	216					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Missense_Mutation	SNP	ENST00000246421.4	37	c.646G>T	CCDS33.1	.	.	.	.	.	.	.	.	.	.	c	8.633	0.894049	0.17613	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	.	.	.	2.95	1.99	0.26369	.	0.215364	0.37669	U	0.001991	T	0.23727	0.0574	L	0.27053	0.805	0.19945	N	0.999948	B;B	0.18461	0.028;0.026	B;B	0.16289	0.01;0.015	T	0.18555	-1.0333	9	0.87932	D	0	-10.0533	1.7826	0.03035	0.3453:0.368:0.1746:0.112	.	216;216	P0CK97;P0CK97-2	S35E2_HUMAN;.	S	216	.	ENSP00000246421:A216S	A	-	1	0	SLC35E2	1656075	0.996000	0.38824	0.824000	0.32777	0.469000	0.32828	0.439000	0.21575	0.559000	0.29153	0.413000	0.27773	GCT		PASS	0.547	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		10	54	10	54	---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	5964865	5964865	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:5964865C>A	ENST00000378156.4	-	16	2221		c.e16-1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						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.?(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)		CTGGGCCACTCTGAATCCAAC	0.542																																						uc001alq.1																			1	Unknown(1)		lung(1)	pancreas(1)	1						c.e16-1		nephroretinin							99.0	100.0	100.0					1																	5964865		2072	4217	6289	SO:0001630	splice_region_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.chr1:5964865C>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.1956-1G>T	1.37:g.5964865C>A						NPHP4_uc001als.1_Splice_Site|NPHP4_uc009vlt.1_Splice_Site|NPHP4_uc001alt.1_Splice_Site|NPHP4_uc009vlu.1_Splice_Site	p.R652_splice	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)	16	2222	-	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)						Q8IWC0	Splice_Site	SNP	ENST00000378156.4	37	c.1956_splice	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654640	0.67472	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6899	0.77442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP4	5887452	0.999000	0.42202	0.985000	0.45067	0.978000	0.69477	5.376000	0.66178	2.364000	0.80123	0.655000	0.94253	.		PASS	0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		Intron	36	71	36	71	---	---	---	---
RNF207	388591	broad.mit.edu	37	1	6272764	6272764	+	Missense_Mutation	SNP	G	G	C	rs199527769		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:6272764G>C	ENST00000377939.4	+	15	1632	c.1505G>C	c.(1504-1506)cGa>cCa	p.R502P	RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	502						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R502P(1)|p.R502L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCCTATCAGCGAGTGGCTAAT	0.498																																						uc001amg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1504-1506)CGA>CCA		ring finger protein 207							130.0	138.0	136.0					1																	6272764		2194	4296	6490	SO:0001583	missense	388591					intracellular	zinc ion binding	g.chr1:6272764G>C	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1505G>C	1.37:g.6272764G>C	ENSP00000367173:p.Arg502Pro					RNF207_uc010nzp.1_RNA	p.R502P	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	15	1679	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	502			Potential.		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	ENST00000377939.4	37	c.1505G>C	CCDS59.2	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500850	0.44455	.	.	ENSG00000158286	ENST00000377939	T	0.32023	1.47	5.25	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.56505	-0.7968	10	0.87932	D	0	-20.0012	14.1553	0.65413	0.1386:0.0:0.8614:0.0	.	502	Q6ZRF8	RN207_HUMAN	P	502	ENSP00000367173:R502P	ENSP00000367173:R502P	R	+	2	0	RNF207	6195351	1.000000	0.71417	0.284000	0.24805	0.258000	0.26162	5.219000	0.65262	0.235000	0.21160	-1.598000	0.00824	CGA		PASS	0.498	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		38	117	38	117	---	---	---	---
SPATA21	374955	broad.mit.edu	37	1	16748415	16748415	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:16748415G>C	ENST00000335496.1	-	4	568	c.86C>G	c.(85-87)gCa>gGa	p.A29G	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	29							calcium ion binding (GO:0005509)	p.A29G(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCTCCTTTTGCTTTTTTAGG	0.552																																						uc001ayn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(85-87)GCA>GGA		spermatogenesis associated 21							231.0	221.0	224.0					1																	16748415		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16748415G>C		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.86C>G	1.37:g.16748415G>C	ENSP00000335612:p.Ala29Gly					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Intron	p.A29G	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	4	569	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	29					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.86C>G	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324342	0.10900	.	.	ENSG00000187144	ENST00000335496	T	0.64438	-0.1	3.01	0.992	0.19819	.	1.387180	0.05126	N	0.491607	T	0.38719	0.1051	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.21075	-1.0256	10	0.33940	T	0.23	.	3.4905	0.07636	0.1403:0.0:0.5989:0.2608	.	29	Q7Z572	SPT21_HUMAN	G	29	ENSP00000335612:A29G	ENSP00000335612:A29G	A	-	2	0	SPATA21	16621002	0.007000	0.16637	0.000000	0.03702	0.008000	0.06430	1.315000	0.33608	0.282000	0.22254	0.555000	0.69702	GCA		PASS	0.552	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		117	225	117	225	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16902793	16902793	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:16902793C>A	ENST00000430580.2	-	19	2975	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	NBPF1_ENST00000432949.1_Silent_p.L154L|NBPF1_ENST00000420031.2_5'Flank|NBPF1_ENST00000287968.8_Silent_p.L61L	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	696						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGTGCTGTGCCAGTCTACACC	0.567																																						uc009vos.1																			0					0						c.(2086-2088)CTG>CTT		hypothetical protein LOC55672							169.0	182.0	177.0					1																	16902793		1511	2701	4212	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16902793C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2088G>T	1.37:g.16902793C>A						NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.L154L|NBPF1_uc010oce.1_Silent_p.L425L	p.L696L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2976	-			696					Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2088G>T																																																																																					PASS	0.567	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		19	630	19	630	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22165442	22165442	+	Silent	SNP	C	C	T	rs552439702		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:22165442C>T	ENST00000374695.3	-	74	10105	c.10026G>A	c.(10024-10026)agG>agA	p.R3342R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3342	Ig-like C2-type 19.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R3342R(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGGCGGTCGCCCTCCCAGGAA	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16382	0.0		0.0	False		,,,				2504	0.0					uc001bfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(10024-10026)AGG>AGA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						24.0	26.0	25.0					1																	22165442		2199	4297	6496	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22165442C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10026G>A	1.37:g.22165442C>T						HSPG2_uc009vqd.2_Silent_p.R3343R	p.R3342R	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	74	10066	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3342			Ig-like C2-type 19.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10026G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315696	0.10789	.	.	ENSG00000142798	ENST00000374676	.	.	.	4.32	2.41	0.29592	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.22185	N	0.999308	.	.	.	.	.	.	T	0.37776	-0.9691	5	0.87932	D	0	.	3.523	0.07750	0.3526:0.4572:0.0:0.1902	.	.	.	.	S	20	.	ENSP00000363808:G20S	G	-	1	0	HSPG2	22038029	0.298000	0.24417	0.037000	0.18230	0.069000	0.16628	0.949000	0.29109	0.447000	0.26695	-0.251000	0.11542	GGC		PASS	0.692	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		11	20	11	20	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32669966	32669966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:32669966C>T	ENST00000373602.5	+	4	858	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	IQCC_ENST00000537469.1_5'Flank|CCDC28B_ENST00000421922.2_Nonsense_Mutation_p.Q171*|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_Intron	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	171					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q171*(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TAACCTGGACCAGCTGCTTAG	0.577																																						uc001bul.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(511-513)CAG>TAG		coiled-coil domain containing 28B							124.0	119.0	121.0					1																	32669966		2203	4300	6503	SO:0001587	stop_gained	79140							g.chr1:32669966C>T	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.511C>T	1.37:g.32669966C>T	ENSP00000362704:p.Gln171*					CCDC28B_uc001buk.2_Nonsense_Mutation_p.Q171*|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	p.Q171*	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN			4	643	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	171			Potential.		A8K789|Q8TBV8	Nonsense_Mutation	SNP	ENST00000373602.5	37	c.511C>T	CCDS354.2	.	.	.	.	.	.	.	.	.	.	C	37	6.539224	0.97646	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	.	.	.	4.78	4.78	0.61160	.	0.054992	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-23.1885	18.3694	0.90402	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	ENSP00000362704:Q171X	Q	+	1	0	CCDC28B	32442553	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.651000	0.61447	2.654000	0.90174	0.561000	0.74099	CAG		PASS	0.577	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		34	41	34	41	---	---	---	---
ZNF362	149076	broad.mit.edu	37	1	33745931	33745931	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:33745931G>T	ENST00000539719.1	+	5	726	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C	ZNF362_ENST00000373428.5_Missense_Mutation_p.G186C	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G186C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGGCCTGCTTGGCCCCCCCAA	0.662																																					Pancreas(162;1431 2676 35353 38425)	uc001bxc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(556-558)GGC>TGC		zinc finger protein 362							43.0	42.0	42.0					1																	33745931		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745931G>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.556G>T	1.37:g.33745931G>T	ENSP00000446335:p.Gly186Cys						p.G186C	NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN			5	726	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	186					Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.556G>T	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398722	0.83120	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.08984	3.03;3.03	5.99	5.99	0.97316	.	0.324362	0.22103	N	0.064583	T	0.28167	0.0695	M	0.63428	1.95	0.53005	D	0.999969	D	0.89917	1.0	D	0.73708	0.981	T	0.00024	-1.2328	10	0.56958	D	0.05	-22.351	18.0311	0.89285	0.0:0.0:1.0:0.0	.	186	Q5T0B9	ZN362_HUMAN	C	173;186;186	ENSP00000446335:G186C;ENSP00000362527:G186C	ENSP00000362527:G186C	G	+	1	0	ZNF362	33518518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.072000	0.76777	2.857000	0.98124	0.650000	0.86243	GGC		PASS	0.662	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		13	45	13	45	---	---	---	---
C1orf94	84970	broad.mit.edu	37	1	34663142	34663142	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:34663142G>T	ENST00000488417.1	+	2	757	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	C1orf94_ENST00000373374.3_Missense_Mutation_p.A23S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	213								p.A23S(1)|p.A213S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CATTCTGTGTGCCGCCGAGGT	0.557																																						uc001bxs.3																			2	Substitution - Missense(2)		lung(2)		0						c.(67-69)GCC>TCC		hypothetical protein LOC84970 isoform b							81.0	72.0	75.0					1																	34663142		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34663142G>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.637G>T	1.37:g.34663142G>T	ENSP00000435634:p.Ala213Ser					C1orf94_uc001bxt.2_Missense_Mutation_p.A213S	p.A23S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			2	466	+		Myeloproliferative disorder(586;0.0393)	23					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.67G>T	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302346	0.05495	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.24350	1.86;1.86	4.98	-0.146	0.13432	.	0.505434	0.18092	N	0.151964	T	0.12263	0.0298	N	0.17379	0.485	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.25047	-1.0143	10	0.25751	T	0.34	-26.9428	6.9683	0.24635	0.0918:0.0:0.4553:0.4529	.	213	Q6P1W5	CA094_HUMAN	S	23;213	ENSP00000362472:A23S;ENSP00000435634:A213S	ENSP00000362472:A23S	A	+	1	0	C1orf94	34435729	0.008000	0.16893	0.219000	0.23793	0.026000	0.11368	0.598000	0.24074	0.087000	0.17167	0.563000	0.77884	GCC		PASS	0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		16	81	16	81	---	---	---	---
GJB4	127534	broad.mit.edu	37	1	35226920	35226920	+	Missense_Mutation	SNP	G	G	T	rs80358212		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:35226920G>T	ENST00000339480.1	+	2	435	c.65G>T	c.(64-66)cGc>cTc	p.R22L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	22					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R22L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGCTGAGCCGCATCTGGCTG	0.577																																						uc001bxv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3	GRCh37	CM035047	GJB4	M	rs80358212	c.(64-66)CGC>CTC		gap junction protein, beta 4							207.0	147.0	167.0					1																	35226920		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35226920G>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.65G>T	1.37:g.35226920G>T	ENSP00000345868:p.Arg22Leu					GJB4_uc001bxw.3_Missense_Mutation_p.R22L	p.R22L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	435	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	22			Helical; (Potential).		B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.65G>T	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654809	0.88056	.	.	ENSG00000189433	ENST00000339480	D	0.99245	-5.62	5.5	5.5	0.81552	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	M	0.93678	3.445	0.45464	D	0.998437	D	0.59767	0.986	D	0.63957	0.92	D	0.98258	1.0497	10	0.87932	D	0	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	22	Q9NTQ9	CXB4_HUMAN	L	22	ENSP00000345868:R22L	ENSP00000345868:R22L	R	+	2	0	GJB4	34999507	0.873000	0.30073	1.000000	0.80357	0.953000	0.61014	2.882000	0.48546	2.604000	0.88044	0.655000	0.94253	CGC		PASS	0.577	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		28	42	28	42	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43775071	43775071	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:43775071A>T	ENST00000372476.3	+	9	1280	c.1201A>T	c.(1201-1203)Att>Ttt	p.I401F	TIE1_ENST00000441333.2_Missense_Mutation_p.H309L|TIE1_ENST00000433781.2_Missense_Mutation_p.I46F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	401	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I401F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCAAGGCCATTGTGGAGCC	0.612																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1201-1203)ATT>TTT		tyrosine kinase with immunoglobulin-like and							134.0	123.0	127.0					1																	43775071		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43775071A>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1201A>T	1.37:g.43775071A>T	ENSP00000361554:p.Ile401Phe					TIE1_uc010okd.1_Missense_Mutation_p.I401F|TIE1_uc010oke.1_Missense_Mutation_p.I356F|TIE1_uc009vwq.2_Missense_Mutation_p.I357F|TIE1_uc010okf.1_Missense_Mutation_p.I46F|TIE1_uc010okg.1_Missense_Mutation_p.I46F|TIE1_uc010okc.1_Missense_Mutation_p.H309L	p.I401F	NM_005424	NP_005415	P35590	TIE1_HUMAN			9	1280	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	401			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1201A>T	CCDS482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.81|12.81	2.048765|2.048765	0.36181|0.36181	.|.	.|.	ENSG00000066056|ENSG00000066056	ENST00000441333|ENST00000372476;ENST00000433781	T|T;T	0.27557|0.41065	1.66|2.61;1.01	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.40554	.|N	.|0.001068	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.55103|0.55103	1.725|1.725	0.51012|0.51012	D|D	0.999909|0.999909	D|D;D;D;D;D	0.54601|0.76494	0.967|0.996;0.997;0.999;0.993;0.997	P|P;D;D;P;D	0.47299|0.72338	0.543|0.9;0.939;0.977;0.796;0.956	T|T	0.51426|0.51426	-0.8707|-0.8707	9|10	0.19590|0.32370	T|T	0.45|0.25	.|.	9.0921|9.0921	0.36617|0.36617	0.9173:0.0:0.0827:0.0|0.9173:0.0:0.0827:0.0	.|.	309|46;356;401;46;401	B5A950|E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.|.;.;.;.;TIE1_HUMAN	L|F	309|401;46	ENSP00000401903:H309L|ENSP00000361554:I401F;ENSP00000411728:I46F	ENSP00000401903:H309L|ENSP00000361554:I401F	H|I	+|+	2|1	0|0	TIE1|TIE1	43547658|43547658	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.856000|3.856000	0.55964|0.55964	1.827000|1.827000	0.53221|0.53221	0.460000|0.460000	0.39030|0.39030	CAT|ATT		PASS	0.612	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		16	72	16	72	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51912683	51912683	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:51912683C>A	ENST00000371733.3	-	10	842	c.746G>T	c.(745-747)cGt>cTt	p.R249L	EPS15_ENST00000371730.2_Missense_Mutation_p.R249L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	249	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)|p.R249L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GAATATTTCACGGACCTCCAA	0.338			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Substitution - Missense(1)|Whole gene deletion(1)		lung(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(745-747)CGT>CTT		epidermal growth factor receptor pathway							124.0	129.0	127.0					1																	51912683		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51912683C>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.746G>T	1.37:g.51912683C>A	ENSP00000360798:p.Arg249Leu					EPS15_uc009vyz.1_Missense_Mutation_p.R249L	p.R249L	NM_001981	NP_001972	P42566	EPS15_HUMAN			10	838	-			249			EH 3.|EF-hand 2.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.746G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253649	0.59212	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.28069	1.63;1.63	5.88	4.98	0.66077	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32819	N	0.005620	T	0.48822	0.1521	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.982;0.999	T	0.45934	-0.9227	10	0.49607	T	0.09	.	15.002	0.71479	0.0:0.9319:0.0:0.0681	.	249;249	B1AUU8;P42566	.;EPS15_HUMAN	L	249	ENSP00000360795:R249L;ENSP00000360798:R249L	ENSP00000360795:R249L	R	-	2	0	EPS15	51685271	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	1.967000	0.40491	1.504000	0.48704	-0.229000	0.12294	CGT		PASS	0.338	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		64	165	64	165	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55563371	55563371	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:55563371G>C	ENST00000294383.6	-	48	5614	c.5615C>G	c.(5614-5616)aCc>aGc	p.T1872S	USP24_ENST00000407756.1_Missense_Mutation_p.T1712S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1872	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.T1872S(1)|p.T1789S(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTAATACAGGTCCTTTTCAC	0.343																																						uc001cyg.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(5134-5136)ACC>AGC		ubiquitin specific protease 24							30.0	27.0	28.0					1																	55563371		1792	4066	5858	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55563371G>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5615C>G	1.37:g.55563371G>C	ENSP00000294383:p.Thr1872Ser						p.T1712S	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			45	5135	-			1872					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5135C>G	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469014	0.84533	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.30182	1.54;1.54	5.65	5.65	0.86999	.	0.046771	0.85682	D	0.000000	T	0.35799	0.0944	L	0.35723	1.085	0.50171	D	0.999853	P	0.48998	0.918	P	0.48063	0.565	T	0.01276	-1.1398	10	0.39692	T	0.17	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1712	B7WPF4	.	S	1872;1712	ENSP00000294383:T1872S;ENSP00000385700:T1712S	ENSP00000294383:T1872S	T	-	2	0	USP24	55335959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.404000	0.79996	2.941000	0.99782	0.655000	0.94253	ACC		PASS	0.343	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			6	18	6	18	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67147845	67147845	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:67147845G>T	ENST00000371037.4	+	15	1185	c.1108G>T	c.(1108-1110)Gta>Tta	p.V370L	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.V374L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	370	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.V370L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCCTCGCAATGTACTATCGCC	0.537																																						uc001dcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1108-1110)GTA>TTA		SH3-domain GRB2-like (endophilin) interacting							79.0	98.0	91.0					1																	67147845		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147845G>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1108G>T	1.37:g.67147845G>T	ENSP00000360076:p.Val370Leu					SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.V137L	p.V370L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			15	1325	+			370			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1108G>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160081	0.38119	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.15017	2.47;2.46	5.19	4.25	0.50352	.	0.716286	0.13931	N	0.352871	T	0.02342	0.0072	N	0.02011	-0.69	0.80722	D	1	B;B	0.19445	0.036;0.0	B;B	0.21917	0.037;0.0	T	0.42344	-0.9457	10	0.25106	T	0.35	-9.5247	7.8937	0.29693	0.1493:0.1536:0.6971:0.0	.	373;370	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	374;373;373;370	ENSP00000237247:V374L;ENSP00000360076:V370L	ENSP00000237247:V374L	V	+	1	0	SGIP1	66920433	0.931000	0.31567	1.000000	0.80357	0.970000	0.65996	0.960000	0.29253	2.570000	0.86706	0.455000	0.32223	GTA		PASS	0.537	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		68	281	68	281	---	---	---	---
ZZZ3	26009	broad.mit.edu	37	1	78097596	78097596	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:78097596C>A	ENST00000370801.3	-	5	1919	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	482					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D482Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGATCATCATCTTCCTCTTCT	0.393																																						uc001dhq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1444-1446)GAT>TAT		zinc finger, ZZ-type containing 3							144.0	134.0	138.0					1																	78097596		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78097596C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1444G>T	1.37:g.78097596C>A	ENSP00000359837:p.Asp482Tyr					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.D482Y|ZZZ3_uc001dhp.2_Missense_Mutation_p.D482Y	p.D482Y	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	1920	-			482					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.1444G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966743	0.53507	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.19	5.19	0.71726	.	0.212038	0.48767	D	0.000167	T	0.50565	0.1623	N	0.12182	0.205	0.80722	D	1	D;D;D	0.56968	0.978;0.963;0.978	P;P;P	0.58873	0.847;0.647;0.808	T	0.60762	-0.7199	9	0.72032	D	0.01	.	19.6004	0.95559	0.0:1.0:0.0:0.0	.	482;482;482	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	Y	482	.	ENSP00000359837:D482Y	D	-	1	0	ZZZ3	77870184	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.382000	0.79729	2.808000	0.96608	0.655000	0.94253	GAT		PASS	0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		70	101	70	101	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92528829	92528829	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:92528829A>G	ENST00000370383.4	+	7	1173	c.1075A>G	c.(1075-1077)Aga>Gga	p.R359G		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	359						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R359G(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						AGAAGAAACAAGAAAAAAAGA	0.294																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1075-1077)AGA>GGA		abhydrolase domain containing 7							30.0	31.0	31.0					1																	92528829		2202	4300	6502	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92528829A>G	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.1075A>G	1.37:g.92528829A>G	ENSP00000359410:p.Arg359Gly						p.R359G	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			7	1179	+			359					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.1075A>G	CCDS736.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080957	0.36758	.	.	ENSG00000172031	ENST00000370383	T	0.60672	0.17	5.84	4.7	0.59300	.	0.263952	0.46145	D	0.000317	T	0.11324	0.0276	N	0.02011	-0.69	0.32911	D	0.514508	B	0.09022	0.002	B	0.09377	0.004	T	0.10636	-1.0621	10	0.23302	T	0.38	.	7.6574	0.28383	0.7881:0.1421:0.0698:0.0	.	359	Q8IUS5	EPHX4_HUMAN	G	359	ENSP00000359410:R359G	ENSP00000359410:R359G	R	+	1	2	EPHX4	92301417	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	2.653000	0.46691	1.008000	0.39264	0.528000	0.53228	AGA		PASS	0.294	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		35	41	35	41	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94463498	94463498	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:94463498C>T	ENST00000370225.3	-	48	6734	c.6648G>A	c.(6646-6648)gcG>gcA	p.A2216A	ABCA4_ENST00000536513.1_Silent_p.A486A|ABCA4_ENST00000535881.1_Silent_p.A335A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2216			A -> V. {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A2216A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGATCCTCGCCAGGGAGG	0.597																																						uc001dqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(6646-6648)GCG>GCA		ATP-binding cassette, sub-family A member 4							142.0	101.0	114.0					1																	94463498		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463498C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6648G>A	1.37:g.94463498C>T							p.A2216A	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	48	6752	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2216		A -> V.	Cytoplasmic.		O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.6648G>A	CCDS747.1																																																																																				PASS	0.597	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		31	46	31	46	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151262644	151262644	+	IGR	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:151262644C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Missense_Mutation_p.S1004F			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S1004F(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTTCTGCTCCGCCCCCAGC	0.602																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(3010-3012)TCC>TTC		zinc finger protein 687							110.0	102.0	105.0					1																	151262644		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262644C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262644C>T						ZNF687_uc009wmo.2_Missense_Mutation_p.S1004F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1004F	p.S1004F	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3109	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1004			C2H2-type 8.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.3011C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.285715|4.285715	0.80803|0.80803	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000426871|ENST00000336715;ENST00000324048;ENST00000368879	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	.|0.000000	.|0.33631	.|U	.|0.004706	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.48174|0.48174	1.505|1.505	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73380	.|0.98;0.956	T|T	0.09930|0.09930	-1.0652|-1.0652	5|10	.|0.49607	.|T	.|0.09	-22.179|-22.179	16.1557|16.1557	0.81666|0.81666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1004;1004	.|Q8N1G0-2;Q8N1G0	.|.;ZN687_HUMAN	S|F	607|1004	.|ENSP00000336620:S1004F;ENSP00000319829:S1004F;ENSP00000357874:S1004F	.|ENSP00000319829:S1004F	P|S	+|+	1|2	0|0	ZNF687|ZNF687	149529268|149529268	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.893000|0.893000	0.52053|0.52053	5.747000|5.747000	0.68689|0.68689	2.673000|2.673000	0.90976|0.90976	0.467000|0.467000	0.42956|0.42956	CCG|TCC		PASS	0.602	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		67	100	67	100	---	---	---	---
LCE2B	26239	broad.mit.edu	37	1	152659545	152659545	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:152659545C>T	ENST00000368780.3	+	2	280	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	LCE2B_ENST00000417924.2_Missense_Mutation_p.H76Y	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	76	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)			p.H76Y(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGAGCCACCACAGGCCCCG	0.672																																						uc001fai.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(226-228)CAC>TAC		late cornified envelope 2B							55.0	71.0	65.0					1																	152659545		2203	4298	6501	SO:0001583	missense	26239				keratinization			g.chr1:152659545C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.226C>T	1.37:g.152659545C>T	ENSP00000357769:p.His76Tyr						p.H76Y	NM_014357	NP_055172	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	280	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		76			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.226C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062646	0.08388	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.08807	3.05;3.05	2.46	2.46	0.29980	.	.	.	.	.	T	0.16854	0.0405	M	0.85859	2.78	0.22562	N	0.998985	D	0.54772	0.968	D	0.70487	0.969	T	0.02444	-1.1158	9	0.87932	D	0	.	8.4052	0.32610	0.0:1.0:0.0:0.0	.	76	O14633	LCE2B_HUMAN	Y	76	ENSP00000414043:H76Y;ENSP00000357769:H76Y	ENSP00000357769:H76Y	H	+	1	0	LCE2B	150926169	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	2.941000	0.49011	1.360000	0.45960	0.313000	0.20887	CAC		PASS	0.672	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		9	46	9	46	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156521502	156521502	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:156521502C>A	ENST00000361170.2	-	15	1739	c.1729G>T	c.(1729-1731)Gcc>Tcc	p.A577S		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	577					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.A577S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCACCTGGGCCTTCTGCCTT	0.562																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(1729-1731)GCC>TCC		IQ motif containing GTPase activating protein 3							53.0	47.0	49.0					1																	156521502		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156521502C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1729G>T	1.37:g.156521502C>A	ENSP00000354451:p.Ala577Ser					IQGAP3_uc009wsb.1_Missense_Mutation_p.A534S	p.A577S	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			15	1804	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		577					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.1729G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692223	0.48202	.	.	ENSG00000183856	ENST00000361170	T	0.12361	2.69	4.76	4.76	0.60689	.	0.231779	0.35466	N	0.003197	T	0.05044	0.0135	L	0.52126	1.63	0.41997	D	0.99087	B	0.31383	0.321	B	0.27170	0.077	T	0.19353	-1.0308	10	0.17832	T	0.49	-7.9039	10.087	0.42423	0.0:0.9067:0.0:0.0933	.	577	Q86VI3	IQGA3_HUMAN	S	577	ENSP00000354451:A577S	ENSP00000354451:A577S	A	-	1	0	IQGAP3	154788126	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.806000	0.55583	2.206000	0.71126	0.491000	0.48974	GCC		PASS	0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		25	23	25	23	---	---	---	---
SLAMF7	57823	broad.mit.edu	37	1	160719865	160719865	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:160719865G>T	ENST00000368043.3	+	3	668	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Missense_Mutation_p.A104S|SLAMF7_ENST00000458104.2_Missense_Mutation_p.A104S|SLAMF7_ENST00000359331.4_Missense_Mutation_p.A211S|SLAMF7_ENST00000368042.3_Missense_Mutation_p.A104S|SLAMF7_ENST00000441662.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	211					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A211S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCCATCCTTGCCAGGAAGCT	0.562																																						uc001fwq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(631-633)GCC>TCC		SLAM family member 7							81.0	87.0	85.0					1																	160719865		2203	4300	6503	SO:0001583	missense	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160719865G>T	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.631G>T	1.37:g.160719865G>T	ENSP00000357022:p.Ala211Ser					SLAMF7_uc010pjn.1_Missense_Mutation_p.A104S|SLAMF7_uc001fws.2_Missense_Mutation_p.A104S|SLAMF7_uc001fwr.2_Missense_Mutation_p.A211S|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Missense_Mutation_p.A104S|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Missense_Mutation_p.A104S	p.A211S	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	646	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		211			Extracellular (Potential).		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	c.631G>T	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025551	0.35701	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000458602;ENST00000458104;ENST00000359331	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.16	1.04	0.20106	.	0.588059	0.18013	N	0.154496	T	0.30885	0.0779	M	0.67397	2.05	0.09310	N	1	D;P;D;P;D;P	0.71674	0.998;0.759;0.962;0.897;0.968;0.937	D;B;P;B;P;B	0.63033	0.91;0.256;0.581;0.271;0.53;0.355	T	0.08027	-1.0742	9	.	.	.	-4.5704	3.8081	0.08786	0.0843:0.1399:0.5386:0.2371	.	104;104;104;104;211;211	B4DVL7;B4DWA3;B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;.;.;SLAF7_HUMAN	S	211;104;104;104;211	ENSP00000357022:A211S;ENSP00000357021:A104S;ENSP00000409965:A104S;ENSP00000403294:A104S;ENSP00000352281:A211S	.	A	+	1	0	SLAMF7	158986489	0.017000	0.18338	0.009000	0.14445	0.939000	0.58152	2.040000	0.41203	0.040000	0.15660	-0.142000	0.14014	GCC		PASS	0.562	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		66	75	66	75	---	---	---	---
F11R	50848	broad.mit.edu	37	1	160990843	160990843	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:160990843G>C	ENST00000368026.6	-	1	295	c.21C>G	c.(19-21)gtC>gtG	p.V7V	F11R_ENST00000537746.1_Silent_p.V7V|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	7					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.V7V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTTTCCTCTCGACTTGCGCCT	0.577																																						uc009wtt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(19-21)GTC>GTG		F11 receptor precursor							137.0	110.0	119.0					1																	160990843		2203	4300	6503	SO:0001819	synonymous_variant	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160990843G>C	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.21C>G	1.37:g.160990843G>C						F11R_uc010pjv.1_Silent_p.V7V|F11R_uc001fxe.3_Silent_p.V7V|F11R_uc009wtu.2_Silent_p.V7V|F11R_uc010pjw.1_Intron|F11R_uc001fxf.3_Silent_p.V7V	p.V7V	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		1	291	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		7					B7Z941	Silent	SNP	ENST00000368026.6	37	c.21C>G	CCDS1213.1																																																																																				PASS	0.577	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		20	34	20	34	---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161022516	161022516	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:161022516G>T	ENST00000368013.3	-	7	1056	c.736C>A	c.(736-738)Ccc>Acc	p.P246T	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P246T|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P69T	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	246					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.P246T(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTGGCCTGGGCATAAGGTCC	0.592																																						uc001fxl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(736-738)CCC>ACC		Rho GTPase activating protein 30 isoform 1							64.0	66.0	65.0					1																	161022516		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161022516G>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.736C>A	1.37:g.161022516G>T	ENSP00000356992:p.Pro246Thr					ARHGAP30_uc001fxk.2_Missense_Mutation_p.P246T|ARHGAP30_uc001fxm.2_Missense_Mutation_p.P92T|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P92T	p.P246T	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		7	1082	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		246					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.736C>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348788	0.41599	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.30182	3.1;3.05;1.54	4.05	3.1	0.35709	.	0.166983	0.40385	N	0.001102	T	0.11067	0.0270	N	0.25647	0.755	0.33612	D	0.603738	P;P	0.35481	0.504;0.461	B;B	0.40901	0.23;0.343	T	0.07751	-1.0756	10	0.29301	T	0.29	.	7.9211	0.29846	0.1179:0.0:0.8821:0.0	.	246;246	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	T	246;246;98;69	ENSP00000356995:P246T;ENSP00000356992:P246T;ENSP00000356994:P69T	ENSP00000356992:P246T	P	-	1	0	ARHGAP30	159289140	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	0.939000	0.28978	2.097000	0.63578	0.549000	0.68633	CCC		PASS	0.592	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		22	34	22	34	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176905450	176905450	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:176905450G>A	ENST00000367654.3	-	15	2669	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	ASTN1_ENST00000367657.3_Missense_Mutation_p.R812W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R812W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R812W|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	820					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R812W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCACAGACCGGACCTTCCAG	0.512																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2434-2436)CGG>TGG		astrotactin isoform 1							146.0	120.0	129.0					1																	176905450		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176905450G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2458C>T	1.37:g.176905450G>A	ENSP00000356626:p.Arg820Trp					ASTN1_uc001glb.1_Missense_Mutation_p.R812W|ASTN1_uc001gld.1_Missense_Mutation_p.R812W|ASTN1_uc009wwx.1_Missense_Mutation_p.R812W	p.R812W	NM_004319	NP_004310	O14525	ASTN1_HUMAN			15	2646	-			820					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2434C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.320258	0.95682	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.54	5.54	0.83059	Membrane attack complex component/perforin (MACPF) domain (1);	0.109887	0.64402	D	0.000005	T	0.63861	0.2547	L	0.50333	1.59	0.80722	D	1	D;D;D	0.69078	0.997;0.986;0.986	P;P;P	0.55667	0.781;0.51;0.636	T	0.66460	-0.5918	10	0.87932	D	0	-25.1366	19.0899	0.93223	0.0:0.0:1.0:0.0	.	820;812;812	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	W	812;812;820;812;812	ENSP00000356629:R812W;ENSP00000354536:R812W;ENSP00000356626:R820W;ENSP00000395041:R812W	ENSP00000354536:R812W	R	-	1	2	ASTN1	175172073	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.949000	0.63596	2.613000	0.88420	0.650000	0.86243	CGG		PASS	0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		16	143	16	143	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177902716	177902716	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:177902716T>C	ENST00000308284.6	-	21	2716	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	876					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.K877R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTCATCCTCCTTGGCTGAACT	0.483																																						uc001gli.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2626-2628)AAG>AGG		leucine zipper transcription regulator 2							77.0	77.0	77.0					1																	177902716		1895	4124	6019	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177902716T>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2627A>G	1.37:g.177902716T>C	ENSP00000308339:p.Lys876Arg					SEC16B_uc001glk.1_Missense_Mutation_p.K553R|SEC16B_uc009wwy.1_Missense_Mutation_p.K431R|SEC16B_uc001glh.1_Missense_Mutation_p.K535R|SEC16B_uc009wwz.1_Missense_Mutation_p.K535R|SEC16B_uc001glj.1_Missense_Mutation_p.K877R	p.K876R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			21	2717	-			876					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2627A>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	T	8.205	0.799052	0.16397	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.15017	2.46	5.65	4.51	0.55191	.	0.627359	0.16262	N	0.222195	T	0.15782	0.0380	M	0.62723	1.935	0.58432	D	0.999999	B;B;B;B	0.32245	0.361;0.1;0.1;0.1	B;B;B;B	0.25140	0.058;0.036;0.036;0.036	T	0.03034	-1.1080	10	0.14252	T	0.57	-9.5472	9.8561	0.41086	0.0:0.0:0.1722:0.8278	.	431;877;876;573	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	R	876;560;591	ENSP00000308339:K876R	ENSP00000239472:K591R	K	-	2	0	AL359075.1	176169339	0.863000	0.29885	0.893000	0.35052	0.100000	0.18952	2.289000	0.43523	0.954000	0.37851	-0.313000	0.08912	AAG		PASS	0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		3	88	3	88	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193099325	193099325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:193099325A>T	ENST00000367435.3	+	3	443	c.259A>T	c.(259-261)Aga>Tga	p.R87*		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	87					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R87*(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TCCTGTGGTTAGAAGACCTGA	0.294																																						uc001gtb.2																			1	Substitution - Nonsense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(259-261)AGA>TGA		parafibromin							125.0	129.0	128.0					1																	193099325		2203	4300	6503	SO:0001587	stop_gained	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193099325A>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.259A>T	1.37:g.193099325A>T	ENSP00000356405:p.Arg87*						p.R87*	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			3	502	+			87					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Nonsense_Mutation	SNP	ENST00000367435.3	37	c.259A>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	37	6.574865	0.97676	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	.	.	.	5.62	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-19.5849	12.508	0.55991	0.8442:0.1557:0.0:0.0	.	.	.	.	X	87	.	ENSP00000356405:R87X	R	+	1	2	CDC73	191365948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.914000	0.56401	0.991000	0.38814	0.459000	0.35465	AGA		PASS	0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		4	152	4	152	---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201983144	201983144	+	Silent	SNP	G	G	A	rs373898432		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:201983144G>A	ENST00000359651.3	+	7	4185	c.993G>A	c.(991-993)cgG>cgA	p.R331R	ELF3_ENST00000367284.5_Silent_p.R331R|ELF3_ENST00000367283.3_Silent_p.R331R|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.R331R(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGCTGAGCCGGGCCATGAGGT	0.602																																						uc001gxg.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(991-993)CGG>CGA		E74-like factor 3 (ets domain transcription							36.0	30.0	32.0					1																	201983144		2203	4300	6503	SO:0001819	synonymous_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201983144G>A	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.993G>A	1.37:g.201983144G>A						ELF3_uc001gxi.3_Silent_p.R331R|ELF3_uc001gxh.3_Silent_p.R331R	p.R331R	NM_004433	NP_004424	P78545	ELF3_HUMAN			7	4185	+			331			ETS.			Silent	SNP	ENST00000359651.3	37	c.993G>A	CCDS1419.1																																																																																				PASS	0.602	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		7	24	7	24	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203317314	203317314	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:203317314G>A	ENST00000354955.4	-	2	548	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	29					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.H29Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CGGAGGTAGTGGAACCACCAA	0.572																																						uc001gzr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(85-87)CAC>TAC		fibromodulin precursor							62.0	61.0	62.0					1																	203317314		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203317314G>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.85C>T	1.37:g.203317314G>A	ENSP00000347041:p.His29Tyr					FMOD_uc010pqi.1_RNA	p.H29Y	NM_002023	NP_002014	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	221	-			29					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.85C>T	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	3.531	-0.095760	0.07010	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.53423	0.62	5.38	5.38	0.77491	.	0.440872	0.25971	N	0.027138	T	0.24812	0.0602	N	0.08118	0	0.22489	N	0.999051	B	0.15141	0.012	B	0.16722	0.016	T	0.09885	-1.0654	10	0.02654	T	1	-20.7035	13.4486	0.61155	0.0:0.1574:0.8426:0.0	.	29	Q06828	FMOD_HUMAN	Y	29	ENSP00000347041:H29Y	ENSP00000347041:H29Y	H	-	1	0	FMOD	201583937	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.115000	0.50391	2.511000	0.84671	0.563000	0.77884	CAC		PASS	0.572	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		68	47	68	47	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222802777	222802777	+	Missense_Mutation	SNP	G	G	T	rs376386576		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:222802777G>T	ENST00000344922.5	+	4	2240	c.2215G>T	c.(2215-2217)Gca>Tca	p.A739S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.A739S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	739					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.A739S(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)		CGCTATAAATGCAAAACGGTC	0.433																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2215-2217)GCA>TCA		melanoma inhibitory activity family, member 3							74.0	68.0	70.0					1																	222802777		1861	4093	5954	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.chr1:222802777G>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.2215G>T	1.37:g.222802777G>T	ENSP00000340900:p.Ala739Ser					MIA3_uc009xea.1_Missense_Mutation_p.A575S	p.A739S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	2224	+			739			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.2215G>T	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292838|4.292838	0.80914|0.80914	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.19250|.	2.16;2.16|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.68504|0.68504	0.3008|0.3008	L|L	0.61218|0.61218	1.895|1.895	0.34785|0.34785	D|D	0.735146|0.735146	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77004|.	0.989;0.984|.	T|T	0.75402|0.75402	-0.3330|-0.3330	9|5	0.72032|.	D|.	0.01|.	.|.	17.7774|17.7774	0.88513|0.88513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	739;739|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	S|F	739|321	ENSP00000340900:A739S;ENSP00000340587:A739S|.	ENSP00000325973:A739S|.	A|C	+|+	1|2	0|0	MIA3|MIA3	220869400|220869400	1.000000|1.000000	0.71417|0.71417	0.619000|0.619000	0.29118|0.29118	0.009000|0.009000	0.06853|0.06853	5.418000|5.418000	0.66429|0.66429	2.370000|2.370000	0.80446|0.80446	0.313000|0.313000	0.20887|0.20887	GCA|TGC		PASS	0.433	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		99	69	99	69	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224475681	224475681	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:224475681C>T	ENST00000281701.6	-	14	1849	c.1590G>A	c.(1588-1590)agG>agA	p.R530R	NVL_ENST00000482491.1_Silent_p.R254R|NVL_ENST00000391875.2_Silent_p.R424R|NVL_ENST00000340871.4_Silent_p.R341R|NVL_ENST00000469075.1_Silent_p.R439R|NVL_ENST00000361463.3_Silent_p.R424R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	530						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R530R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCCCAGCAGCCTTTGTAATT	0.393																																						uc001hok.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1588-1590)AGG>AGA		nuclear VCP-like isoform 1							56.0	57.0	56.0					1																	224475681		2203	4300	6503	SO:0001819	synonymous_variant	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224475681C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.1590G>A	1.37:g.224475681C>T						NVL_uc001hol.2_Silent_p.R424R|NVL_uc010pvd.1_Silent_p.R439R|NVL_uc010pve.1_Silent_p.R341R|NVL_uc010pvf.1_RNA	p.R530R	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	14	1633	-			530					B4DMC4|B4DP98|Q96EM7	Silent	SNP	ENST00000281701.6	37	c.1590G>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	6.874	0.530601	0.13127	.	.	ENSG00000143748	ENST00000469968	.	.	.	5.58	1.62	0.23740	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	-2.0558	2.2053	0.03934	0.24:0.3867:0.2337:0.1396	.	.	.	.	T	413	.	.	A	-	1	0	NVL	222542304	0.022000	0.18835	0.885000	0.34714	0.721000	0.41392	-0.440000	0.06888	0.046000	0.15833	-0.169000	0.13324	GCT		PASS	0.393	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		71	55	71	55	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229619809	229619809	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:229619809T>A	ENST00000261396.3	-	12	1675	c.1584A>T	c.(1582-1584)caA>caT	p.Q528H	NUP133_ENST00000537506.1_Missense_Mutation_p.Q512H	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	528					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.Q528H(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACCTGCAGTATTGCAGAAAGG	0.348																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(1582-1584)CAA>CAT		nucleoporin 133kDa							106.0	105.0	105.0					1																	229619809		2203	4299	6502	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229619809T>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1584A>T	1.37:g.229619809T>A	ENSP00000261396:p.Gln528His						p.Q528H	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			12	1676	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	528					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1584A>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202107	0.58234	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.24538	1.86;1.85;1.86	5.29	-6.0	0.02206	.	0.114895	0.64402	D	0.000009	T	0.19366	0.0465	M	0.62723	1.935	0.44188	D	0.997003	B	0.11235	0.004	B	0.04013	0.001	T	0.26608	-1.0098	10	0.15499	T	0.54	-19.9437	12.8272	0.57726	0.0:0.6394:0.1009:0.2597	.	528	Q8WUM0	NU133_HUMAN	H	528;528;528;512	ENSP00000261396:Q528H;ENSP00000355640:Q528H;ENSP00000443496:Q512H	ENSP00000261396:Q528H	Q	-	3	2	NUP133	227686432	0.156000	0.22821	0.826000	0.32828	0.913000	0.54294	-0.702000	0.05069	-0.882000	0.03987	-0.371000	0.07208	CAA		PASS	0.348	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		92	51	92	51	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241901755	241901755	+	Missense_Mutation	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:241901755A>C	ENST00000366552.2	+	10	1462	c.1255A>C	c.(1255-1257)Atg>Ctg	p.M419L	WDR64_ENST00000437684.2_Missense_Mutation_p.M419L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	419								p.M419L(1)|p.M139L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GATTTACTCTATGATATATGA	0.383																																						uc001hze.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1255-1257)ATG>CTG		RecName: Full=WD repeat-containing protein 64;							115.0	107.0	110.0					1																	241901755		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241901755A>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1255A>C	1.37:g.241901755A>C	ENSP00000355510:p.Met419Leu					WDR64_uc001hzf.1_Missense_Mutation_p.M139L	p.M419L			B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		10	1462	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	419			WD 5.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1255A>C		.	.	.	.	.	.	.	.	.	.	A	15.17	2.752703	0.49362	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.35236	1.91;1.37;1.32	6.07	6.07	0.98685	.	0.059387	0.64402	D	0.000001	T	0.47673	0.1458	L	0.38175	1.15	0.35763	D	0.820339	D	0.53462	0.96	D	0.64321	0.924	T	0.54390	-0.8301	10	0.36615	T	0.2	-28.5347	14.1639	0.65464	1.0:0.0:0.0:0.0	.	139	D1MPS4	.	L	419;419;190	ENSP00000355510:M419L;ENSP00000402446:M419L;ENSP00000406656:M190L	ENSP00000355510:M419L	M	+	1	0	WDR64	239968378	1.000000	0.71417	0.874000	0.34290	0.745000	0.42441	5.534000	0.67167	2.326000	0.78906	0.533000	0.62120	ATG		PASS	0.383	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		111	77	111	77	---	---	---	---
MAP1LC3C	440738	broad.mit.edu	37	1	242159509	242159509	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:242159509T>A	ENST00000357246.3	-	4	464	c.400A>T	c.(400-402)Agg>Tgg	p.R134W		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	134					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.R134W(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCCCATCCCTGGGGGCTGCT	0.567																																						uc001hzk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)AGG>TGG		microtubule-associated protein 1 light chain 3							112.0	101.0	105.0					1																	242159509		2203	4300	6503	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159509T>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.400A>T	1.37:g.242159509T>A	ENSP00000349785:p.Arg134Trp						p.R134W	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	475	-			134					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.400A>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	T	7.934	0.741277	0.15642	.	.	ENSG00000197769	ENST00000357246	T	0.47869	0.83	3.53	-7.07	0.01563	.	1.991800	0.02389	N	0.079481	T	0.27866	0.0686	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11518	-1.0584	10	0.66056	D	0.02	.	1.0542	0.01586	0.2116:0.3325:0.1992:0.2567	.	134	Q9BXW4	MLP3C_HUMAN	W	134	ENSP00000349785:R134W	ENSP00000349785:R134W	R	-	1	2	MAP1LC3C	240226132	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.480000	0.02325	-2.550000	0.00480	-1.631000	0.00782	AGG		PASS	0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		89	53	89	53	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436938	248436938	+	Missense_Mutation	SNP	A	A	G	rs544654849		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:248436938A>G	ENST00000318021.2	-	1	200	c.179T>C	c.(178-180)cTc>cCc	p.L60P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L60P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGGCTCAGGAGGAAGTACAT	0.532																																						uc010pzi.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(178-180)CTC>CCC		olfactory receptor, family 2, subfamily T,							83.0	75.0	78.0					1																	248436938		2202	4300	6502	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436938A>G		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.179T>C	1.37:g.248436938A>G	ENSP00000324687:p.Leu60Pro						p.L60P	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	179	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		60			Helical; Name=2; (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.179T>C	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	17.12	3.307865	0.60305	.	.	ENSG00000177212	ENST00000318021	T	0.03212	4.01	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.311215	0.17524	U	0.171116	T	0.24851	0.0603	H	0.95504	3.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.16958	-1.0385	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	60	Q8NG76	O2T33_HUMAN	P	60	ENSP00000324687:L60P	ENSP00000324687:L60P	L	-	2	0	OR2T33	246503561	1.000000	0.71417	0.726000	0.30738	0.923000	0.55619	6.784000	0.75084	1.178000	0.42870	0.404000	0.27445	CTC		PASS	0.532	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		88	83	88	83	---	---	---	---
OR2T11	127077	broad.mit.edu	37	1	248789591	248789591	+	Missense_Mutation	SNP	G	G	A	rs190359273		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr1:248789591G>A	ENST00000330803.2	-	1	900	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P280L(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTAAGCATGGGCGTGACAAT	0.483																																						uc001ier.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(838-840)CCC>CTC		olfactory receptor, family 2, subfamily T,							101.0	99.0	100.0					1																	248789591		2055	4234	6289	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789591G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.839C>T	1.37:g.248789591G>A	ENSP00000328934:p.Pro280Leu						p.P280L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	839	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		280			Helical; Name=7; (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.839C>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.842560	0.32606	.	.	ENSG00000183130	ENST00000330803	T	0.00337	8.05	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.174326	0.27710	N	0.018163	T	0.01627	0.0052	H	0.97983	4.12	0.18873	N	0.999987	D	0.76494	0.999	D	0.78314	0.991	T	0.15407	-1.0438	10	0.87932	D	0	.	16.0834	0.81020	0.0:0.0:1.0:0.0	.	280	Q8NH01	O2T11_HUMAN	L	280	ENSP00000328934:P280L	ENSP00000328934:P280L	P	-	2	0	OR2T11	246856214	0.912000	0.30974	0.981000	0.43875	0.015000	0.08874	3.195000	0.51013	2.278000	0.76064	0.655000	0.94253	CCC		PASS	0.483	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		11	170	11	170	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27730846	27730846	+	Missense_Mutation	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:27730846A>C	ENST00000264717.2	+	15	1306	c.1243A>C	c.(1243-1245)Aac>Cac	p.N415H	GCKR_ENST00000424318.2_Missense_Mutation_p.N225H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	415	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.N415H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCTCCTAGACAACCTCACGGA	0.597																																						uc002rky.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1243-1245)AAC>CAC		glucokinase regulatory protein							63.0	57.0	59.0					2																	27730846		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730846A>C	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1243A>C	2.37:g.27730846A>C	ENSP00000264717:p.Asn415His					GCKR_uc010ezd.2_Missense_Mutation_p.N413H|GCKR_uc010ylu.1_Missense_Mutation_p.N225H	p.N415H	NM_001486	NP_001477	Q14397	GCKR_HUMAN			15	1309	+	Acute lymphoblastic leukemia(172;0.155)		415			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1243A>C	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	A	7.741	0.701367	0.15172	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;D	0.84660	-1.88;-1.88	4.22	3.07	0.35406	Sugar isomerase (SIS) (1);	0.652555	0.15168	N	0.276829	T	0.72078	0.3416	L	0.27053	0.805	0.28948	N	0.890543	B;B;B	0.33841	0.428;0.178;0.106	B;B;B	0.28991	0.097;0.034;0.019	T	0.63928	-0.6526	10	0.37606	T	0.19	-3.9392	6.4361	0.21825	0.888:0.0:0.112:0.0	.	225;413;415	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	H	415;225	ENSP00000264717:N415H;ENSP00000409109:N225H	ENSP00000264717:N415H	N	+	1	0	GCKR	27584350	0.999000	0.42202	0.971000	0.41717	0.425000	0.31504	0.944000	0.29043	0.760000	0.33108	-0.250000	0.11733	AAC		PASS	0.597	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		23	30	23	30	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37041330	37041330	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:37041330G>C	ENST00000389975.3	+	15	2165	c.1863G>C	c.(1861-1863)gtG>gtC	p.V621V	VIT_ENST00000379242.3_Silent_p.V636V|VIT_ENST00000401530.1_Silent_p.V600V|VIT_ENST00000404084.1_Silent_p.V573V|VIT_ENST00000497382.1_Silent_p.V290V|VIT_ENST00000379241.3_Silent_p.V599V	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	621	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.V636V(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCACAGGAGTGATCACCTATG	0.522																																						uc002rpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1906-1908)GTG>GTC		vitrin							96.0	83.0	88.0					2																	37041330		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37041330G>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1863G>C	2.37:g.37041330G>C						VIT_uc002rpm.2_Silent_p.V614V|VIT_uc010ezv.2_Silent_p.V592V|VIT_uc010ezw.2_Silent_p.V593V	p.V636V	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			16	2129	+		all_hematologic(82;0.248)	621			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1908G>C	CCDS54347.1																																																																																				PASS	0.522	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				20	93	20	93	---	---	---	---
DYNC2LI1	51626	broad.mit.edu	37	2	44023055	44023055	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:44023055G>T	ENST00000260605.8	+	7	634	c.534G>T	c.(532-534)ccG>ccT	p.P178P	DYNC2LI1_ENST00000605786.1_Silent_p.P179P|DYNC2LI1_ENST00000443170.3_Silent_p.P52P|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.P178P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCATTTCCGGTACCTCTGG	0.348																																						uc002rtk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)CCG>CCT		dynein 2 light intermediate chain isoform 1							130.0	126.0	128.0					2																	44023055		2203	4300	6503	SO:0001819	synonymous_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44023055G>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.534G>T	2.37:g.44023055G>T						DYNC2LI1_uc002rtj.2_Silent_p.P178P|DYNC2LI1_uc002rtl.2_Silent_p.P179P|DYNC2LI1_uc010ynz.1_Silent_p.P52P	p.P178P	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			7	630	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	178					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	c.534G>T	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	g	9.391	1.075477	0.20227	.	.	ENSG00000138036	ENST00000378587	.	.	.	5.24	1.56	0.23342	.	.	.	.	.	T	0.43122	0.1233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	-5.7458	1.9443	0.03353	0.5889:0.137:0.1426:0.1314	.	.	.	.	L	162	.	.	R	+	2	0	DYNC2LI1	43876559	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	0.663000	0.25053	0.111000	0.17947	-0.374000	0.07098	CGG		PASS	0.348	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		66	91	66	91	---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44051508	44051508	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:44051508T>A	ENST00000260645.1	-	8	1107	c.968A>T	c.(967-969)cAg>cTg	p.Q323L	ABCG5_ENST00000405322.1_Missense_Mutation_p.Q152L|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	323					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.Q323L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTCTATCATCTGGACTCTCTT	0.388																																						uc002rtn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(967-969)CAG>CTG		ATP-binding cassette sub-family G member 5							130.0	138.0	135.0					2																	44051508		2202	4299	6501	SO:0001583	missense	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051508T>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.968A>T	2.37:g.44051508T>A	ENSP00000260645:p.Gln323Leu					ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Missense_Mutation_p.Q152L|ABCG5_uc002rtp.2_Intron	p.Q323L	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			8	1108	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	323			Cytoplasmic (Potential).		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	37	c.968A>T	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974823	0.53720	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	T;T	0.80480	1.88;-1.38	5.75	5.75	0.90469	.	0.677681	0.12703	N	0.446206	T	0.69557	0.3124	L	0.27053	0.805	0.80722	D	1	P;P	0.44195	0.828;0.651	B;B	0.38428	0.221;0.273	T	0.68138	-0.5488	10	0.41790	T	0.15	.	10.8785	0.46925	0.0:0.0736:0.0:0.9264	.	152;323	E7EX35;Q9H222	.;ABCG5_HUMAN	L	323;152	ENSP00000260645:Q323L;ENSP00000384513:Q152L	ENSP00000260645:Q323L	Q	-	2	0	ABCG5	43905012	1.000000	0.71417	0.947000	0.38551	0.982000	0.71751	4.390000	0.59646	2.194000	0.70268	0.533000	0.62120	CAG		PASS	0.388	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		244	267	244	267	---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74750078	74750078	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:74750078G>T	ENST00000404568.3	-	7	1427	c.1208C>A	c.(1207-1209)cCc>cAc	p.P403H	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Missense_Mutation_p.P403H	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	403	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.P285H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACACACCCTGGGTTGTGGCAA	0.517																																						uc010yrw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1207-1209)CCC>CAC		DEAQ box polypeptide 1 (RNA-dependent ATPase)							89.0	89.0	89.0					2																	74750078		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750078G>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1208C>A	2.37:g.74750078G>T	ENSP00000384621:p.Pro403His					DQX1_uc002smc.2_5'UTR	p.P403H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			7	1373	-			403			Helicase C-terminal.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1208C>A	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722016	0.68959	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.03272	3.99;3.99	4.99	4.99	0.66335	Helicase, C-terminal (1);	0.077426	0.51477	D	0.000086	T	0.26557	0.0649	H	0.96333	3.805	0.43588	D	0.995932	D	0.76494	0.999	D	0.65573	0.936	T	0.34254	-0.9836	10	0.87932	D	0	-21.9458	13.7717	0.63029	0.0:0.0:1.0:0.0	.	403	Q8TE96	DQX1_HUMAN	H	403	ENSP00000377523:P403H;ENSP00000384621:P403H	ENSP00000377523:P403H	P	-	2	0	DQX1	74603586	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.226000	0.89785	2.320000	0.78422	0.555000	0.69702	CCC		PASS	0.517	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		43	135	43	135	---	---	---	---
RNF181	51255	broad.mit.edu	37	2	85823972	85823972	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:85823972A>T	ENST00000306368.4	+	3	275	c.245A>T	c.(244-246)gAa>gTa	p.E82V	RNF181_ENST00000441634.1_Missense_Mutation_p.E82V	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	82					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E82V(1)		lung(1)|stomach(1)	2						TGTCTTTTGGAATTTGAGGAG	0.527																																						uc002spv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GAA>GTA		ring finger protein 181							205.0	196.0	199.0					2																	85823972		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85823972A>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.245A>T	2.37:g.85823972A>T	ENSP00000306906:p.Glu82Val						p.E82V	NM_016494	NP_057578	Q9P0P0	RN181_HUMAN			3	295	+			82			RING-type; atypical.		Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.245A>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	A	32	5.143479	0.94603	.	.	ENSG00000168894	ENST00000441634;ENST00000306368	T;T	0.49432	0.78;0.78	5.75	5.75	0.90469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.48174	1.505	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	T	0.59857	-0.7375	10	0.41790	T	0.15	.	14.0112	0.64498	1.0:0.0:0.0:0.0	.	82	Q9P0P0	RN181_HUMAN	V	82	ENSP00000412025:E82V;ENSP00000306906:E82V	ENSP00000306906:E82V	E	+	2	0	RNF181	85677483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.415000	0.73328	2.185000	0.69588	0.533000	0.62120	GAA		PASS	0.527	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		125	245	125	245	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98736131	98736131	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:98736131C>T	ENST00000477737.1	+	4	651	c.447C>T	c.(445-447)ggC>ggT	p.G149G	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.G149G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	149								p.G149G(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGATTTTGGCGGCATTCTGG	0.527																																						uc002syo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(445-447)GGC>GGT		von Willebrand factor A domain containing 3B							191.0	187.0	188.0					2																	98736131		1989	4149	6138	SO:0001819	synonymous_variant	200403							g.chr2:98736131C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.447C>T	2.37:g.98736131C>T						VWA3B_uc010yvh.1_Intron|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.G149G|VWA3B_uc002syn.1_RNA	p.G149G	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			4	711	+			149					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.447C>T	CCDS42718.1																																																																																				PASS	0.527	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	370	5	370	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103324932	103324932	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:103324932G>T	ENST00000233969.2	+	12	2565	c.2423G>T	c.(2422-2424)gGg>gTg	p.G808V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	808					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.G808V(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCGATTTGGGAGTGAGAAG	0.557																																						uc002tca.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(3)|breast(2)	8						c.(2422-2424)GGG>GTG		solute carrier family 9 (sodium/hydrogen							55.0	65.0	62.0					2																	103324932		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103324932G>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2423G>T	2.37:g.103324932G>T	ENSP00000233969:p.Gly808Val						p.G808V	NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN			12	2565	+			808			Cytoplasmic (Potential).		B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.2423G>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997760	0.54147	.	.	ENSG00000115616	ENST00000233969	T	0.57907	0.37	5.77	5.77	0.91146	.	0.227961	0.38897	N	0.001522	T	0.48786	0.1519	N	0.24115	0.695	0.58432	D	0.999992	D	0.58268	0.982	P	0.52793	0.709	T	0.51560	-0.8690	10	0.72032	D	0.01	.	10.2622	0.43434	0.0933:0.0:0.9067:0.0	.	808	Q9UBY0	SL9A2_HUMAN	V	808	ENSP00000233969:G808V	ENSP00000233969:G808V	G	+	2	0	SLC9A2	102691364	0.996000	0.38824	0.536000	0.28039	0.486000	0.33341	3.085000	0.50151	2.712000	0.92718	0.650000	0.86243	GGG		PASS	0.557	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			33	102	33	102	---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106498213	106498213	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:106498213G>T	ENST00000233154.4	+	4	1098	c.656G>T	c.(655-657)gGg>gTg	p.G219V	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.G219V|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	219	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.G219V(1)		endometrium(1)|lung(3)|ovary(1)	5						TTCGAGAAGGGGGAGACCATG	0.612																																						uc002tdg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(655-657)GGG>GTG		NCK adaptor protein 2 isoform A							78.0	86.0	84.0					2																	106498213		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498213G>T	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.656G>T	2.37:g.106498213G>T	ENSP00000233154:p.Gly219Val					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.G219V	p.G219V	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	1098	+			219			SH3 3.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.656G>T	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686360	0.88639	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.72615	-0.67;-0.67	5.41	5.41	0.78517	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.89836	0.6830	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92605	0.6094	10	0.87932	D	0	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	219	O43639	NCK2_HUMAN	V	219	ENSP00000233154:G219V;ENSP00000377018:G219V	ENSP00000233154:G219V	G	+	2	0	NCK2	105864645	1.000000	0.71417	0.977000	0.42913	0.963000	0.63663	9.354000	0.97083	2.700000	0.92200	0.462000	0.41574	GGG		PASS	0.612	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		34	74	34	74	---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120702715	120702715	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:120702715A>G	ENST00000263708.2	+	16	2185	c.1414A>G	c.(1414-1416)Aaa>Gaa	p.K472E	PTPN4_ENST00000544261.1_Missense_Mutation_p.K105E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	472					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.K472E(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACAGTCAAAGAAAAACAGTTG	0.363																																						uc002tmf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1414-1416)AAA>GAA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						78.0	81.0	80.0					2																	120702715		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120702715A>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1414A>G	2.37:g.120702715A>G	ENSP00000263708:p.Lys472Glu					PTPN4_uc010flj.1_Missense_Mutation_p.K185E|PTPN4_uc010yyr.1_Missense_Mutation_p.K105E	p.K472E	NM_002830	NP_002821	P29074	PTN4_HUMAN			16	2185	+			472					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1414A>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406602	0.42715	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.71461	-0.57;2.97;0.94	5.2	5.2	0.72013	.	0.045454	0.85682	D	0.000000	T	0.52191	0.1719	L	0.34521	1.04	0.47153	D	0.999339	P	0.40970	0.734	B	0.32211	0.142	T	0.58493	-0.7627	10	0.02654	T	1	.	15.3688	0.74545	1.0:0.0:0.0:0.0	.	472	P29074	PTN4_HUMAN	E	472;105;98	ENSP00000263708:K472E;ENSP00000445841:K105E;ENSP00000387457:K98E	ENSP00000263708:K472E	K	+	1	0	PTPN4	120419185	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.806000	0.62569	2.075000	0.62263	0.533000	0.62120	AAA		PASS	0.363	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			43	86	43	86	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136620287	136620287	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:136620287C>A	ENST00000264156.2	-	8	1170	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	370	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.L370L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CAAAGAGCATCAGCAGGACAC	0.418																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1108-1110)CTG>CTT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						111.0	105.0	107.0					2																	136620287		2203	4300	6503	SO:0001819	synonymous_variant	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136620287C>A		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1110G>T	2.37:g.136620287C>A							p.L370L	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	8	1186	-			370			MCM.		B2R6H2|Q13504|Q99859	Silent	SNP	ENST00000264156.2	37	c.1110G>T	CCDS2179.1																																																																																				PASS	0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		70	116	70	116	---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711340	155711340	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:155711340G>T	ENST00000295101.2	+	3	1498	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	341					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.D341Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTTTAAAGTTGATTACTCCCA	0.423																																						uc002tyv.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(1021-1023)GAT>TAT		potassium inwardly-rectifying channel J3	Halothane(DB01159)						119.0	120.0	120.0					2																	155711340		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711340G>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1021G>T	2.37:g.155711340G>T	ENSP00000295101:p.Asp341Tyr					KCNJ3_uc010zce.1_3'UTR	p.D341Y	NM_002239	NP_002230	P48549	IRK3_HUMAN			3	1216	+			341			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1021G>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993042	0.74703	.	.	ENSG00000162989	ENST00000295101	D	0.94723	-3.5	5.7	5.7	0.88788	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98388	0.9464	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99357	1.0916	10	0.87932	D	0	.	18.8359	0.92162	0.0:0.0:1.0:0.0	.	341	P48549	IRK3_HUMAN	Y	341	ENSP00000295101:D341Y	ENSP00000295101:D341Y	D	+	1	0	KCNJ3	155419586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GAT		PASS	0.423	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		30	131	30	131	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158140834	158140834	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:158140834A>T	ENST00000259056.4	+	2	1980	c.1495A>T	c.(1495-1497)Agt>Tgt	p.S499C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	499	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S499C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCCAACCACCAGTGTCATCAT	0.468																																						uc002tzg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(1495-1497)AGT>TGT		N-acetylgalactosaminyltransferase 5							285.0	231.0	249.0					2																	158140834		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158140834A>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1495A>T	2.37:g.158140834A>T	ENSP00000259056:p.Ser499Cys					GALNT5_uc010zci.1_RNA	p.S499C	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			2	1750	+			499			Catalytic subdomain A.|Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1495A>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896838	0.91962	.	.	ENSG00000136542	ENST00000259056	T	0.73575	-0.76	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.085386	0.85682	D	0.000000	D	0.91626	0.7354	H	0.98629	4.285	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.94716	0.7896	10	0.87932	D	0	.	15.8854	0.79244	1.0:0.0:0.0:0.0	.	499	Q7Z7M9	GALT5_HUMAN	C	499	ENSP00000259056:S499C	ENSP00000259056:S499C	S	+	1	0	GALNT5	157849080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.385000	0.79763	2.371000	0.80710	0.533000	0.62120	AGT		PASS	0.468	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		28	148	28	148	---	---	---	---
FAP	2191	broad.mit.edu	37	2	163031394	163031394	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:163031394G>T	ENST00000188790.4	-	22	2159	c.1952C>A	c.(1951-1953)tCc>tAc	p.S651Y	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.S626Y	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.S651Y(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTCCCAGCTGGAGACTGGAGC	0.388																																						uc002ucd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1951-1953)TCC>TAC		fibroblast activation protein, alpha subunit							104.0	93.0	97.0					2																	163031394		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163031394G>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1952C>A	2.37:g.163031394G>T	ENSP00000188790:p.Ser651Tyr					FAP_uc010fpc.2_Missense_Mutation_p.S200Y|FAP_uc010zct.1_Missense_Mutation_p.S626Y|FAP_uc010fpd.2_Missense_Mutation_p.S130Y	p.S651Y	NM_004460	NP_004451	Q12884	SEPR_HUMAN			22	2160	-			651			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1952C>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610792	0.87258	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29655	1.56;1.56	5.42	5.42	0.78866	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.052035	0.85682	D	0.000000	T	0.65637	0.2710	M	0.90650	3.135	0.80722	D	1	D;D;D	0.89917	0.994;0.998;1.0	D;D;D	0.85130	0.979;0.956;0.997	T	0.72653	-0.4228	10	0.87932	D	0	-13.8421	19.5998	0.95557	0.0:0.0:1.0:0.0	.	626;130;651	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	Y	651;626	ENSP00000188790:S651Y;ENSP00000411391:S626Y	ENSP00000188790:S651Y	S	-	2	0	FAP	162739640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.278000	0.95766	2.717000	0.92951	0.655000	0.94253	TCC		PASS	0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			26	82	26	82	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166451624	166451624	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:166451624C>A	ENST00000342316.4	+	2	321	c.49C>A	c.(49-51)Ccc>Acc	p.P17T	CSRNP3_ENST00000314499.7_Missense_Mutation_p.P17T|CSRNP3_ENST00000409420.1_Missense_Mutation_p.P49T	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	17	Ser-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P17T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CGGCTCCTCACCCTGCTCCTC	0.478																																						uc002udf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(49-51)CCC>ACC		cysteine-serine-rich nuclear protein 3							119.0	109.0	112.0					2																	166451624		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166451624C>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.49C>A	2.37:g.166451624C>A	ENSP00000344042:p.Pro17Thr					CSRNP3_uc002udg.2_Missense_Mutation_p.P17T	p.P17T	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			4	425	+			17			Ser-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.49C>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802101	0.90538	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00984	-1.1491	10	0.38643	T	0.18	-16.1298	20.3206	0.98668	0.0:1.0:0.0:0.0	.	17	Q8WYN3	CSRN3_HUMAN	T	17;24;17;17;17;49	ENSP00000412081:P17T;ENSP00000318258:P17T;ENSP00000386278:P17T;ENSP00000344042:P17T;ENSP00000387195:P49T	ENSP00000318258:P17T	P	+	1	0	CSRNP3	166159870	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.817000	0.69229	2.809000	0.96659	0.655000	0.94253	CCC		PASS	0.478	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		36	133	36	133	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170135900	170135900	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:170135900G>A	ENST00000263816.3	-	12	1832	c.1547C>T	c.(1546-1548)gCc>gTc	p.A516V	LRP2_ENST00000443831.1_Missense_Mutation_p.A516V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	516					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A516V(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGGTCCACGGCAATTCCTCT	0.403																																						uc002ues.2																			2	Substitution - Missense(2)		lung(2)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1546-1548)GCC>GTC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						86.0	89.0	88.0					2																	170135900		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170135900G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1547C>T	2.37:g.170135900G>A	ENSP00000263816:p.Ala516Val					LRP2_uc010zdf.1_Missense_Mutation_p.A516V	p.A516V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1760	-			516			LDL-receptor class B 2.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1547C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542772	0.85917	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.97665	-4.48;-4.48	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	N	0.26042	0.785	0.37032	D	0.896738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97636	1.0145	9	.	.	.	.	19.5773	0.95450	0.0:0.0:1.0:0.0	.	516;516	E9PC35;P98164	.;LRP2_HUMAN	V	516	ENSP00000263816:A516V;ENSP00000409813:A516V	.	A	-	2	0	LRP2	169844146	1.000000	0.71417	0.882000	0.34594	0.972000	0.66771	9.781000	0.99029	2.643000	0.89663	0.650000	0.86243	GCC		PASS	0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	212	5	212	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179434250	179434250	+	Missense_Mutation	SNP	G	G	A	rs527631472		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:179434250G>A	ENST00000591111.1	-	276	71910	c.71686C>T	c.(71686-71688)Cgt>Tgt	p.R23896C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25537C|TTN_ENST00000342992.6_Missense_Mutation_p.R22969C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16664C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16597C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16472C|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23896	Ig-like 120.				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.R16597C(1)|p.R16472C(1)|p.R16664C(1)|p.R22969C(1)|p.R22967C(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)			GGTGTAGGACGACCTTTTATA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20030	0.0		0.001	False		,,,				2504	0.0					uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(68905-68907)CGT>TGT		titin isoform N2-A							96.0	84.0	88.0					2																	179434250		1885	4120	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434250G>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.71686C>T	2.37:g.179434250G>A	ENSP00000465570:p.Arg23896Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16664C|TTN_uc010zfi.1_Missense_Mutation_p.R16597C|TTN_uc010zfj.1_Missense_Mutation_p.R16472C	p.R22969C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69129	-			23896					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.68905C>T		.	.	.	.	.	.	.	.	.	.	G	16.84	3.233154	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.55	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82829	0.5122	M	0.83852	2.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.98;0.98;0.989	D	0.86015	0.1503	9	0.87932	D	0	.	15.958	0.79902	0.0:0.0:0.8644:0.1356	.	16472;16597;16664;23896	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22969;16472;16664;16597;16470	ENSP00000343764:R22969C;ENSP00000434586:R16472C;ENSP00000340554:R16664C;ENSP00000352154:R16597C	ENSP00000340554:R16664C	R	-	1	0	TTN	179142496	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.720000	0.74723	1.316000	0.45131	0.655000	0.94253	CGT		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	72	9	72	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222428482	222428482	+	Silent	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:222428482A>T	ENST00000281821.2	-	3	833	c.792T>A	c.(790-792)gcT>gcA	p.A264A	EPHA4_ENST00000409938.1_Silent_p.A264A|EPHA4_ENST00000409854.1_Silent_p.A264A|EPHA4_ENST00000392071.4_Silent_p.A213A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	264	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.A264A(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCTCATGCCCAGCGTTGCATA	0.488																																						uc002vmq.2																			2	Substitution - coding silent(2)		lung(2)	lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(790-792)GCT>GCA		ephrin receptor EphA4 precursor							464.0	363.0	397.0					2																	222428482		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428482A>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.792T>A	2.37:g.222428482A>T						EPHA4_uc002vmr.2_Silent_p.A264A|EPHA4_uc010zlm.1_Silent_p.A205A|EPHA4_uc010zln.1_Silent_p.A264A	p.A264A	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	834	-		Renal(207;0.0183)	264			Cys-rich.|Extracellular (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.792T>A	CCDS2447.1																																																																																				PASS	0.488	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			42	93	42	93	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225670849	225670849	+	Missense_Mutation	SNP	T	T	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:225670849T>G	ENST00000258390.7	-	34	3875	c.3808A>C	c.(3808-3810)Ata>Cta	p.I1270L	DOCK10_ENST00000409592.3_Missense_Mutation_p.I1264L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1270					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1268L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTACCTGCTATGGAATTTAAA	0.338																																						uc010fwz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3808-3810)ATA>CTA		dedicator of cytokinesis 10							105.0	105.0	105.0					2																	225670849		1857	4091	5948	SO:0001583	missense	55619						GTP binding	g.chr2:225670849T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3808A>C	2.37:g.225670849T>G	ENSP00000258390:p.Ile1270Leu					DOCK10_uc002vob.2_Missense_Mutation_p.I1264L|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.I133L	p.I1270L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	34	4047	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1270					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3808A>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333140	0.60853	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.21734	3.75;1.99	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.53561	1.675	0.44595	D	0.997564	D;D;P	0.59357	0.985;0.96;0.949	D;P;P	0.66716	0.946;0.891;0.603	T	0.12243	-1.0555	10	0.51188	T	0.08	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	1270;133;1264	Q96BY6;B4DF07;B3FL70	DOC10_HUMAN;.;.	L	1264;1270	ENSP00000386694:I1264L;ENSP00000258390:I1270L	ENSP00000258390:I1270L	I	-	1	0	DOCK10	225379093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.879000	0.75572	2.279000	0.76181	0.533000	0.62120	ATA		PASS	0.338	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	38	7	38	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233244989	233244989	+	Missense_Mutation	SNP	G	G	T	rs141711512		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:233244989G>T	ENST00000392027.2	+	6	1020	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	251					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.D251Y(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACCAGGCTGGACGGGAAGAA	0.632																																						uc002vsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)GAC>TAC		placental alkaline phosphatase preproprotein							101.0	98.0	99.0					2																	233244989		2203	4300	6503	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244989G>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.751G>T	2.37:g.233244989G>T	ENSP00000375881:p.Asp251Tyr					ALPP_uc002vsr.2_5'Flank	p.D251Y	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	916	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	251					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.751G>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.208948	0.58343	.	.	ENSG00000163283	ENST00000392027	D	0.97430	-4.38	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.098032	0.64402	D	0.000002	D	0.99093	0.9688	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98358	1.0547	10	0.87932	D	0	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	251	P05187	PPB1_HUMAN	Y	251	ENSP00000375881:D251Y	ENSP00000375881:D251Y	D	+	1	0	ALPP	232953233	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	8.961000	0.93122	1.289000	0.44618	0.298000	0.19748	GAC		PASS	0.632	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		6	182	6	182	---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233273070	233273070	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:233273070G>T	ENST00000295453.3	+	6	794	c.742G>T	c.(742-744)Gac>Tac	p.D248Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	248					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.D248Y(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GACCAGGCTGGACGGGAAGAA	0.622																																						uc002vss.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(742-744)GAC>TAC		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						80.0	84.0	82.0					2																	233273070		2203	4299	6502	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273070G>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.742G>T	2.37:g.233273070G>T	ENSP00000295453:p.Asp248Tyr						p.D248Y	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	795	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	248					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.742G>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	15.84	2.950686	0.53186	.	.	ENSG00000163286	ENST00000295453	D	0.97430	-4.38	3.37	2.44	0.29823	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.097968	0.64402	D	0.000002	D	0.99105	0.9692	H	0.99545	4.62	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.98402	1.0568	10	0.87932	D	0	.	12.3507	0.55146	0.0:0.1723:0.8277:0.0	.	248	P10696	PPBN_HUMAN	Y	248	ENSP00000295453:D248Y	ENSP00000295453:D248Y	D	+	1	0	ALPPL2	232981314	1.000000	0.71417	0.004000	0.12327	0.024000	0.10985	6.172000	0.71932	0.467000	0.27218	0.411000	0.27672	GAC		PASS	0.622	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		8	83	8	83	---	---	---	---
UGT1A6	54578	broad.mit.edu	37	2	234601653	234601653	+	Start_Codon_SNP	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:234601653G>T	ENST00000305139.6	+	1	142	c.3G>T	c.(1-3)atG>atT	p.M1I	AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'Flank|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	1					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M1I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTTCCAGGATGGCCTGCCTCC	0.463																																						uc002vuv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATT		UDP glycosyltransferase 1 family, polypeptide A6							41.0	45.0	44.0					2																	234601653		2203	4300	6503	SO:0001582	initiator_codon_variant	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234601653G>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.3G>T	2.37:g.234601653G>T	ENSP00000303174:p.Met1Ile					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.M1I	p.M1I	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	142	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	1					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.3G>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283891	0.80803	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.57752	1.68;0.38	4.76	4.76	0.60689	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	P;P	0.45531	0.86;0.524	B;B	0.38755	0.281;0.095	T	0.52924	-0.8510	8	0.87932	D	0	.	12.4754	0.55809	0.0:0.0:0.8332:0.1667	.	1;1	B8K289;P19224	.;UD16_HUMAN	I	1	ENSP00000389637:M1I;ENSP00000303174:M1I	ENSP00000303174:M1I	M	+	3	0	UGT1A6	234266392	1.000000	0.71417	0.821000	0.32701	0.167000	0.22549	3.970000	0.56824	2.619000	0.88677	0.655000	0.94253	ATG		PASS	0.463	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	Missense_Mutation	37	124	37	124	---	---	---	---
PDCD1	5133	broad.mit.edu	37	2	242794944	242794944	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr2:242794944G>T	ENST00000334409.5	-	2	334	c.265C>A	c.(265-267)Ccc>Acc	p.P89T		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	89	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.P89T(3)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TCCTGGCCGGGCTGGCTGCGG	0.642																																						uc002wcq.3																			3	Substitution - Missense(3)		prostate(2)|lung(1)	ovary(1)	1						c.(265-267)CCC>ACC		programmed cell death 1 precursor							42.0	43.0	42.0					2																	242794944		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242794944G>T	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.265C>A	2.37:g.242794944G>T	ENSP00000335062:p.Pro89Thr					PDCD1_uc010fzs.2_Missense_Mutation_p.P20T|PDCD1_uc010fzt.2_Intron	p.P89T	NM_005018	NP_005009	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	333	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	89			Ig-like V-type.|Extracellular (Potential).		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.265C>A	CCDS33428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.49|10.49	1.365990|1.365990	0.24684|0.24684	.|.	.|.	ENSG00000188389|ENSG00000188389	ENST00000343705|ENST00000334409;ENST00000539073	.|T	.|0.21361	.|2.01	2.9|2.9	1.02|1.02	0.19986|0.19986	.|Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	.|1.180690	.|0.06298	.|N	.|0.700368	T|T	0.18045|0.18045	0.0433|0.0433	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48694	.|0.914;0.914	.|B;B	.|0.43536	.|0.423;0.423	T|T	0.19778|0.19778	-1.0295|-1.0295	5|10	.|0.59425	.|D	.|0.04	-2.1115|-2.1115	4.0073|4.0073	0.09607|0.09607	0.1426:0.2486:0.6088:0.0|0.1426:0.2486:0.6088:0.0	.|.	.|89;89	.|Q8IX89;Q15116	.|.;PDCD1_HUMAN	D|T	32|89	.|ENSP00000335062:P89T	.|ENSP00000335062:P89T	A|P	-|-	2|1	0|0	PDCD1|PDCD1	242443617|242443617	0.461000|0.461000	0.25783|0.25783	0.005000|0.005000	0.12908|0.12908	0.709000|0.709000	0.40893|0.40893	0.936000|0.936000	0.28938|0.28938	0.260000|0.260000	0.21731|0.21731	0.457000|0.457000	0.33378|0.33378	GCC|CCC		PASS	0.642	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		5	42	5	42	---	---	---	---
SLC6A6	6533	broad.mit.edu	37	3	14509682	14509682	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:14509682A>G	ENST00000454876.2	+	9	1387	c.1058A>G	c.(1057-1059)cAa>cGa	p.Q353R	SLC6A6_ENST00000360861.3_Missense_Mutation_p.Q353R			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	353					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.Q353R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTCATGGCACAAGAGCAAGGG	0.522											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010heg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1057-1059)CAA>CGA		solute carrier family 6 (neurotransmitter							141.0	126.0	131.0					3																	14509682		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14509682A>G		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1058A>G	3.37:g.14509682A>G	ENSP00000398063:p.Gln353Arg		OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	SLC6A6_uc003byq.2_Missense_Mutation_p.Q353R|SLC6A6_uc003byr.2_Intron	p.Q353R	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			16	1349	+			353					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1058A>G	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633914	0.47049	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74632	-0.86;-0.86	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	L	0.61036	1.89	0.58432	D	0.999996	B	0.12630	0.006	B	0.24848	0.056	T	0.71101	-0.4690	10	0.48119	T	0.1	.	15.068	0.72011	1.0:0.0:0.0:0.0	.	353	P31641	SC6A6_HUMAN	R	353	ENSP00000398063:Q353R;ENSP00000354107:Q353R	ENSP00000354107:Q353R	Q	+	2	0	SLC6A6	14484686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.260000	0.78391	1.957000	0.56846	0.383000	0.25322	CAA		PASS	0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		35	115	35	115	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20136868	20136868	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:20136868G>T	ENST00000263754.4	+	3	999	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	182					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.D182Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGAAGATGCAGATACCAAACA	0.368																																						uc003cbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(544-546)GAT>TAT		K(lysine) acetyltransferase 2B							93.0	98.0	96.0					3																	20136868		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20136868G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.544G>T	3.37:g.20136868G>T	ENSP00000263754:p.Asp182Tyr						p.D182Y	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			3	990	+			182					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.544G>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765134	0.90020	.	.	ENSG00000114166	ENST00000263754	T	0.25250	1.81	5.6	5.6	0.85130	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.74647	2.275	0.80722	D	1	P	0.45634	0.863	P	0.51170	0.661	T	0.43686	-0.9376	10	0.66056	D	0.02	-25.5959	19.6097	0.95600	0.0:0.0:1.0:0.0	.	182	Q92831	KAT2B_HUMAN	Y	182	ENSP00000263754:D182Y	ENSP00000263754:D182Y	D	+	1	0	KAT2B	20111872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.768000	0.98965	2.635000	0.89317	0.555000	0.69702	GAT		PASS	0.368	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		22	96	22	96	---	---	---	---
MLH1	4292	broad.mit.edu	37	3	37070325	37070325	+	Missense_Mutation	SNP	G	G	T	rs63749876|rs587778919|rs587778917		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:37070325G>T	ENST00000231790.2	+	13	1676	c.1460G>T	c.(1459-1461)cGa>cTa	p.R487L	MLH1_ENST00000455445.2_Missense_Mutation_p.R246L|MLH1_ENST00000539477.1_Missense_Mutation_p.R246L|MLH1_ENST00000536378.1_Missense_Mutation_p.R246L|MLH1_ENST00000435176.1_Missense_Mutation_p.R389L|MLH1_ENST00000458205.2_Missense_Mutation_p.R246L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	487	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.R487L(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GATGATTCCCGAAAGGAAATG	0.418		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		2	Substitution - Missense(1)|Whole gene deletion(1)	p.0?(1)	ovary(1)|lung(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(1459-1461)CGA>CTA	MMR	MutL protein homolog 1							209.0	214.0	212.0					3																	37070325		2203	4300	6503	SO:0001583	missense	4292	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	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37070325G>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1460G>T	3.37:g.37070325G>T	ENSP00000231790:p.Arg487Leu					MLH1_uc011aye.1_Missense_Mutation_p.R246L|MLH1_uc011ayb.1_Missense_Mutation_p.R246L|MLH1_uc010hge.2_Missense_Mutation_p.R487L|MLH1_uc003cgn.3_Missense_Mutation_p.R246L|MLH1_uc011ayc.1_Missense_Mutation_p.R389L|MLH1_uc011ayd.1_Missense_Mutation_p.R246L|MLH1_uc003cgo.2_Missense_Mutation_p.R246L|MLH1_uc010hgi.1_Missense_Mutation_p.R129L|MLH1_uc010hgj.1_Missense_Mutation_p.R129L|MLH1_uc010hgk.2_Missense_Mutation_p.R129L|MLH1_uc010hgl.1_Missense_Mutation_p.R62L|MLH1_uc010hgn.2_Missense_Mutation_p.R129L|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Missense_Mutation_p.R129L	p.R487L	NM_000249	NP_000240	P40692	MLH1_HUMAN			13	1520	+			487			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1460G>T	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.561|8.561	0.877711|0.877711	0.17395|0.17395	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000383761;ENST00000421440;ENST00000396438;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378;ENST00000450420;ENST00000413740	.|D;D;D;D;D;D;D;D	.|0.91068	.|-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.72|5.72	-1.86|-1.86	0.07760|0.07760	.|.	.|1.288720	.|0.05174	.|N	.|0.500017	.|D	.|0.82793	.|0.5114	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.33857	.|0.078;0.035;0.078;0.429;0.02;0.078;0.0	.|B;B;B;B;B;B;B	.|0.35470	.|0.023;0.014;0.039;0.203;0.014;0.023;0.001	.|T	.|0.68750	.|-0.5326	.|10	.|0.08599	.|T	.|0.76	-2.0E-4|-2.0E-4	6.9925|6.9925	0.24763|0.24763	0.4776:0.0:0.4139:0.1085|0.4776:0.0:0.4139:0.1085	.|.	.|389;389;246;30;246;487;487	.|E9PCU2;B4DQ11;B7Z821;E9PE33;B4DI13;Q53GX1;P40692	.|.;.;.;.;.;.;MLH1_HUMAN	X|L	479|487;351;30;30;246;246;246;389;246;28;28	.|ENSP00000231790:R487L;ENSP00000402667:R246L;ENSP00000443665:R246L;ENSP00000398272:R246L;ENSP00000402564:R389L;ENSP00000444286:R246L;ENSP00000393006:R28L;ENSP00000416476:R28L	.|ENSP00000231790:R487L	E|R	+|+	1|2	0|0	MLH1|MLH1	37045329|37045329	0.000000|0.000000	0.05858|0.05858	0.303000|0.303000	0.25071|0.25071	0.958000|0.958000	0.62258|0.62258	0.347000|0.347000	0.20014|0.20014	-0.305000|-0.305000	0.08831|0.08831	-0.251000|-0.251000	0.11542|0.11542	GAA|CGA		PASS	0.418	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		144	148	144	148	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38087137	38087137	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:38087137G>T	ENST00000308059.6	+	2	536	c.515G>T	c.(514-516)aGc>aTc	p.S172I	DLEC1_ENST00000452631.2_Missense_Mutation_p.S172I|DLEC1_ENST00000346219.3_Missense_Mutation_p.S172I					deleted in lung and esophageal cancer 1									p.S172I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGGGTCATGAGCCAGGCTGGA	0.532																																						uc003cho.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(514-516)AGC>ATC		deleted in lung and esophageal cancer 1 isoform							63.0	64.0	64.0					3																	38087137		1938	4140	6078	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087137G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.515G>T	3.37:g.38087137G>T	ENSP00000308597:p.Ser172Ile					DLEC1_uc003chp.1_Missense_Mutation_p.S172I|DLEC1_uc010hgv.1_Missense_Mutation_p.S172I	p.S172I	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	2	536	+			172						Missense_Mutation	SNP	ENST00000308059.6	37	c.515G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419169	0.25552	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05382	3.47;3.45;3.69	4.8	-0.721	0.11189	.	0.730350	0.13505	N	0.382921	T	0.04770	0.0129	L	0.38175	1.15	0.09310	N	1	P;P;P	0.47106	0.89;0.826;0.89	B;B;B	0.40565	0.333;0.333;0.333	T	0.35276	-0.9795	10	0.56958	D	0.05	-3.0126	4.5326	0.12013	0.4423:0.3602:0.1975:0.0	.	172;172;172	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	I	172	ENSP00000308597:S172I;ENSP00000315914:S172I;ENSP00000410427:S172I	ENSP00000308597:S172I	S	+	2	0	DLEC1	38062141	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.060000	0.11712	0.031000	0.15407	-0.910000	0.02820	AGC		PASS	0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		17	41	17	41	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38167686	38167686	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:38167686C>A	ENST00000333167.8	-	9	1136	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	ACAA1_ENST00000544624.1_3'UTR|ACAA1_ENST00000301810.7_Intron|ACAA1_ENST00000450296.1_Missense_Mutation_p.A281S|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	322					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.A322S(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ATGGCATAGGCAGGTCCAATG	0.562																																						uc003cht.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(964-966)GCC>TCC		acetyl-Coenzyme A acyltransferase 1 isoform a							90.0	73.0	79.0					3																	38167686		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167686C>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.964G>T	3.37:g.38167686C>A	ENSP00000333664:p.Ala322Ser					ACAA1_uc003chu.2_Intron|ACAA1_uc010hgy.2_Missense_Mutation_p.A281S|ACAA1_uc010hgz.2_Missense_Mutation_p.A322S|ACAA1_uc003chv.2_Missense_Mutation_p.A170S	p.A322S	NM_001607	NP_001598	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	9	1171	-			322					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.964G>T	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476406	0.84640	.	.	ENSG00000060971	ENST00000333167;ENST00000450296;ENST00000358122	D;D	0.83075	-1.68;-1.68	5.34	5.34	0.76211	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.054007	0.64402	D	0.000001	D	0.84929	0.5581	L	0.54965	1.715	0.80722	D	1	B;P;P	0.48162	0.094;0.906;0.467	B;B;P	0.49301	0.416;0.431;0.606	D	0.83479	0.0063	10	0.33141	T	0.24	-26.6024	19.043	0.93008	0.0:1.0:0.0:0.0	.	254;281;322	F5GXL8;C9JDE9;P09110	.;.;THIK_HUMAN	S	322;281;254	ENSP00000333664:A322S;ENSP00000395183:A281S	ENSP00000333664:A322S	A	-	1	0	ACAA1	38142690	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	7.366000	0.79548	2.486000	0.83907	0.650000	0.86243	GCC		PASS	0.562	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		3	57	3	57	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38798291	38798291	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:38798291C>A	ENST00000449082.2	-	9	1163	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	388					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L388L(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCAAGTTGACCAGGTAGAAAG	0.468																																						uc003ciq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1162-1164)CTG>CTT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						141.0	138.0	139.0					3																	38798291		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798291C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1164G>T	3.37:g.38798291C>A							p.L388L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1164	-			388			Helical; Name=S6 of repeat I; (Potential).|I.		A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1164G>T	CCDS33736.1																																																																																				PASS	0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		72	100	72	100	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38805035	38805035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:38805035T>A	ENST00000449082.2	-	5	651	c.652A>T	c.(652-654)Aga>Tga	p.R218*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	218					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R218*(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTAAGAACTCTGAATGTCCGC	0.453																																						uc003ciq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(652-654)AGA>TGA		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						159.0	154.0	156.0					3																	38805035		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38805035T>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.652A>T	3.37:g.38805035T>A	ENSP00000390600:p.Arg218*						p.R218*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	5	652	-			218			I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.652A>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	T	35	5.464643	0.96257	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.53	0.239	0.15484	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8487	0.70281	0.0:0.0:0.6289:0.3711	.	.	.	.	X	218	.	ENSP00000390600:R218X	R	-	1	2	SCN10A	38780039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.721000	0.25911	0.271000	0.22005	0.455000	0.32223	AGA		PASS	0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		75	94	75	94	---	---	---	---
KLHL40	131377	broad.mit.edu	37	3	42728049	42728049	+	Silent	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:42728049C>G	ENST00000287777.4	+	1	1039	c.939C>G	c.(937-939)ggC>ggG	p.G313G		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	313					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.G313G(1)									TGCGCTTCGGCATGTTCCTGC	0.567																																						uc003clv.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(937-939)GGC>GGG		kelch repeat and BTB (POZ) domain containing 5							153.0	149.0	150.0					3																	42728049		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42728049C>G	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.939C>G	3.37:g.42728049C>G							p.G313G	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	1039	+			313					Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.939C>G	CCDS2703.1																																																																																				PASS	0.567	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		65	99	65	99	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43640090	43640090	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:43640090T>A	ENST00000292246.3	-	4	576	c.406A>T	c.(406-408)Aga>Tga	p.R136*	ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Nonsense_Mutation_p.R136*|ANO10_ENST00000414522.2_Nonsense_Mutation_p.R136*|ANO10_ENST00000396091.3_Nonsense_Mutation_p.R70*	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	136					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.R136*(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TCTTTAGCTCTAAGATTTTCA	0.313																																						uc003cmv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(406-408)AGA>TGA		transmembrane protein 16K							127.0	122.0	124.0					3																	43640090		2203	4298	6501	SO:0001587	stop_gained	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43640090T>A	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.406A>T	3.37:g.43640090T>A	ENSP00000292246:p.Arg136*					ANO10_uc011azs.1_Nonsense_Mutation_p.R136*|ANO10_uc003cmw.2_Nonsense_Mutation_p.R70*|ANO10_uc010hil.2_Nonsense_Mutation_p.R136*|ANO10_uc011azt.1_Intron	p.R136*	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			4	577	-			136			Cytoplasmic (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Nonsense_Mutation	SNP	ENST00000292246.3	37	c.406A>T	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752264	0.69533	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397	.	.	.	5.87	1.85	0.25348	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0045	0.64453	0.0:0.0:0.4618:0.5382	.	.	.	.	X	136;136;70;136;136;136;136;136	.	ENSP00000292246:R136X	R	-	1	2	ANO10	43615094	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.090000	0.30902	1.031000	0.39867	0.533000	0.62120	AGA		PASS	0.313	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		32	46	32	46	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111664201	111664201	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:111664201A>G	ENST00000431670.2	+	9	2895	c.2484A>G	c.(2482-2484)aaA>aaG	p.K828K	PHLDB2_ENST00000393925.3_Silent_p.K828K|PHLDB2_ENST00000481953.1_Silent_p.K785K|PHLDB2_ENST00000495180.1_Silent_p.K414K|PHLDB2_ENST00000393923.3_Silent_p.K812K|PHLDB2_ENST00000412622.1_Silent_p.K785K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	828						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.K812K(1)|p.K828K(1)|p.K785K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATACTTTAAAAGAGGTAAGCT	0.348																																						uc010hqa.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|skin(2)	6						c.(2482-2484)AAA>AAG		pleckstrin homology-like domain, family B,							54.0	59.0	57.0					3																	111664201		2203	4299	6502	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111664201A>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2484A>G	3.37:g.111664201A>G						PHLDB2_uc003dyc.2_Silent_p.K812K|PHLDB2_uc003dyd.2_Silent_p.K785K|PHLDB2_uc003dyg.2_Silent_p.K828K|PHLDB2_uc003dyh.2_Silent_p.K785K|PHLDB2_uc003dyi.2_Silent_p.K414K	p.K828K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			9	2895	+			828					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2484A>G	CCDS46886.1																																																																																				PASS	0.348	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		70	95	70	95	---	---	---	---
CD86	942	broad.mit.edu	37	3	121822396	121822396	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:121822396G>T	ENST00000330540.2	+	3	218	c.102G>T	c.(100-102)gaG>gaT	p.E34D	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.E28D|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	34	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.E34D(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	ATTTCAATGAGACTGCAGACC	0.433																																					GBM(67;1379 1389 36064 39806)	uc003eet.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(100-102)GAG>GAT		CD86 antigen isoform 1	Abatacept(DB01281)						73.0	73.0	73.0					3																	121822396		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822396G>T		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.102G>T	3.37:g.121822396G>T	ENSP00000332049:p.Glu34Asp					CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.E28D	p.E34D	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	218	+			34			Ig-like V-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.102G>T	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903822|1.903822	0.33628|0.33628	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000330540;ENST00000482356;ENST00000393627	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.24|5.24	1.35|1.35	0.21983|0.21983	.|Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.078560	.|0.07109	.|N	.|0.841900	T|T	0.26231|0.26231	0.0640|0.0640	L|L	0.56124|0.56124	1.755|1.755	0.21861|0.21861	N|N	0.999507|0.999507	.|B	.|0.30439	.|0.279	.|B	.|0.28991	.|0.097	T|T	0.32798|0.32798	-0.9893|-0.9893	5|10	.|0.48119	.|T	.|0.1	-4.6105|-4.6105	2.2698|2.2698	0.04087|0.04087	0.169:0.1517:0.5225:0.1568|0.169:0.1517:0.5225:0.1568	.|.	.|34	.|P42081	.|CD86_HUMAN	Y|D	30|34;28;28	.|ENSP00000332049:E34D;ENSP00000419116:E28D;ENSP00000377248:E28D	.|ENSP00000332049:E34D	D|E	+|+	1|3	0|2	CD86|CD86	123305086|123305086	0.200000|0.200000	0.23398|0.23398	0.193000|0.193000	0.23327|0.23327	0.871000|0.871000	0.50021|0.50021	-0.157000|-0.157000	0.10085|0.10085	0.127000|0.127000	0.18452|0.18452	0.655000|0.655000	0.94253|0.94253	GAC|GAG		PASS	0.433	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		50	169	50	169	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129267964	129267964	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:129267964C>G	ENST00000324382.2	+	3	504	c.499C>G	c.(499-501)Cct>Gct	p.P167A	H1FOO_ENST00000503977.1_Missense_Mutation_p.P28A	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	167					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)	p.P167A(1)		endometrium(1)|lung(4)|skin(1)	6						CAAGGAGGACCCTCCCAACGT	0.632																																						uc003emu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(499-501)CCT>GCT		H1 histone family, member O, oocyte-specific							40.0	33.0	35.0					3																	129267964		2197	4295	6492	SO:0001583	missense	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129267964C>G	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.499C>G	3.37:g.129267964C>G	ENSP00000319799:p.Pro167Ala					H1FOO_uc003emv.2_Missense_Mutation_p.P28A	p.P167A	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN			3	504	+			167			Nuclear localization signal (Potential).		Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	c.499C>G	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015803	0.35606	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.49139	0.94;0.79	2.55	0.599	0.17519	.	.	.	.	.	T	0.49626	0.1568	L	0.55481	1.735	0.09310	N	1	D	0.61080	0.989	P	0.55303	0.773	T	0.35425	-0.9789	9	0.32370	T	0.25	0.8174	5.9563	0.19275	0.0:0.5087:0.3691:0.1222	.	167	Q8IZA3	H1FOO_HUMAN	A	167;28	ENSP00000319799:P167A;ENSP00000422964:P28A	ENSP00000319799:P167A	P	+	1	0	H1FOO	130750654	0.000000	0.05858	0.003000	0.11579	0.087000	0.18053	0.223000	0.17719	0.129000	0.18514	0.460000	0.39030	CCT		PASS	0.632	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		12	9	12	9	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130282165	130282165	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:130282165G>T	ENST00000358511.6	+	2	349	c.318G>T	c.(316-318)caG>caT	p.Q106H	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q106H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	106	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q106H(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						GGTCCCTGCAGATAGGAAAGG	0.498																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(316-318)CAG>CAT		collagen type VI alpha 6 precursor							37.0	36.0	36.0					3																	130282165		1850	4079	5929	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282165G>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.318G>T	3.37:g.130282165G>T	ENSP00000351310:p.Gln106His						p.Q106H	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	349	+			106			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.318G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614704	0.14129	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83250	-1.7;-1.7	5.36	1.35	0.21983	von Willebrand factor, type A (3);	0.739315	0.12383	N	0.473723	T	0.72145	0.3424	N	0.20986	0.625	0.09310	N	1	P	0.42941	0.794	P	0.45377	0.478	T	0.59354	-0.7470	10	0.15499	T	0.54	.	7.514	0.27590	0.163:0.379:0.458:0.0	.	106	A6NMZ7	CO6A6_HUMAN	H	106	ENSP00000351310:Q106H;ENSP00000399236:Q106H	ENSP00000351310:Q106H	Q	+	3	2	COL6A6	131764855	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	0.023000	0.13533	0.297000	0.22615	0.561000	0.74099	CAG		PASS	0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		19	69	19	69	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136136806	136136806	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:136136806T>C	ENST00000383202.2	-	21	2373	c.2117A>G	c.(2116-2118)gAt>gGt	p.D706G	STAG1_ENST00000236698.5_Missense_Mutation_p.D706G|STAG1_ENST00000536929.1_Missense_Mutation_p.D290G|STAG1_ENST00000434713.2_Missense_Mutation_p.D480G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	706					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.D706G(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						TTTTGTGAGATCATGTGCACT	0.348																																						uc003era.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2116-2118)GAT>GGT		stromal antigen 1							118.0	107.0	111.0					3																	136136806		2203	4300	6503	SO:0001583	missense	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136136806T>C	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.2117A>G	3.37:g.136136806T>C	ENSP00000372689:p.Asp706Gly					STAG1_uc003erb.1_Missense_Mutation_p.D706G|STAG1_uc003erc.1_Missense_Mutation_p.D480G|STAG1_uc010hua.1_Missense_Mutation_p.D569G	p.D706G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			21	2409	-			706					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2117A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407347	0.83230	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.45668	1.19;1.2;1.33;0.89	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.988;0.999;0.979	T	0.75473	-0.3305	10	0.72032	D	0.01	.	14.4178	0.67163	0.0:0.0:0.0:1.0	.	723;706;706	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	G	706;706;480;290	ENSP00000372689:D706G;ENSP00000236698:D706G;ENSP00000404396:D480G;ENSP00000445787:D290G	ENSP00000236698:D706G	D	-	2	0	STAG1	137619496	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.952000	0.87827	1.790000	0.52503	0.454000	0.30748	GAT		PASS	0.348	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		11	123	11	123	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137843132	137843132	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:137843132C>T	ENST00000236709.3	-	3	1198	c.997G>A	c.(997-999)Ggg>Agg	p.G333R		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	333					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.G333R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						CCCAGCTCCCCAGTCACTGAC	0.493																																						uc003ers.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(997-999)GGG>AGG		alpha-1,4-N-acetylglucosaminyltransferase							88.0	99.0	95.0					3																	137843132		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843132C>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.997G>A	3.37:g.137843132C>T	ENSP00000236709:p.Gly333Arg						p.G333R	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	1199	-			333			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.997G>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	2.255	-0.370698	0.05069	.	.	ENSG00000118017	ENST00000236709	D	0.83163	-1.69	5.53	-2.64	0.06114	.	1.626860	0.03241	N	0.180450	T	0.62036	0.2395	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.55872	-0.8072	10	0.07482	T	0.82	-25.3902	5.6868	0.17807	0.0:0.3071:0.2476:0.4452	.	333	Q9UNA3	A4GCT_HUMAN	R	333	ENSP00000236709:G333R	ENSP00000236709:G333R	G	-	1	0	A4GNT	139325822	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.378000	0.07446	-0.365000	0.08076	0.563000	0.77884	GGG		PASS	0.493	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		46	248	46	248	---	---	---	---
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:139297773G>T	ENST00000296202.7	-	4	615	c.234C>A	c.(232-234)atC>atA	p.I78I	NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_Silent_p.I41I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000511444.1_Silent_p.I41I|NMNAT3_ENST00000339837.5_Silent_p.I41I|NMNAT3_ENST00000512391.1_Silent_p.I78I			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	78					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587																																						uc003etj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(232-234)ATC>ATA		nicotinamide mononucleotide adenylyltransferase							119.0	99.0	106.0					3																	139297773		2203	4300	6503	SO:0001819	synonymous_variant	349565				water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr3:139297773G>T	AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.234C>A	3.37:g.139297773G>T						NMNAT3_uc003etk.2_Silent_p.I41I|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Intron	p.I78I	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN			2	274	-			78					B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Silent	SNP	ENST00000296202.7	37	c.234C>A																																																																																					PASS	0.587	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177		11	55	11	55	---	---	---	---
PTX3	5806	broad.mit.edu	37	3	157160709	157160709	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:157160709A>T	ENST00000295927.3	+	3	1232	c.1087A>T	c.(1087-1089)Att>Ttt	p.I363F	VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	363	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)	p.I363F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGGGGGAATATTGTTGGGTG	0.468																																						uc003fbl.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1087-1089)ATT>TTT		pentraxin 3 precursor							67.0	73.0	71.0					3																	157160709		2203	4300	6503	SO:0001583	missense	5806				inflammatory response	extracellular region		g.chr3:157160709A>T	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.1087A>T	3.37:g.157160709A>T	ENSP00000295927:p.Ile363Phe					VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	p.I363F	NM_002852	NP_002843	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	1230	+			363			Pentaxin.		B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	c.1087A>T	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.043416	0.55003	.	.	ENSG00000163661	ENST00000295927	T	0.11604	2.76	5.71	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.446334	0.26180	N	0.025876	T	0.17152	0.0412	L	0.43152	1.355	0.42707	D	0.993639	P	0.44877	0.845	P	0.53062	0.717	T	0.00740	-1.1586	10	0.87932	D	0	-10.9815	9.5019	0.39022	0.4152:0.0:0.5848:0.0	.	363	P26022	PTX3_HUMAN	F	363	ENSP00000295927:I363F	ENSP00000295927:I363F	I	+	1	0	PTX3	158643403	0.649000	0.27322	0.048000	0.18961	0.953000	0.61014	0.291000	0.18994	0.315000	0.23110	-0.242000	0.12053	ATT		PASS	0.468	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		52	155	52	155	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908179	164908179	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:164908179C>A	ENST00000475390.1	-	2	883	c.440G>T	c.(439-441)gGc>gTc	p.G147V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G147V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	147					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G147V(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						ACTTTCCAAGCCAAGGAAGGT	0.373										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(439-441)GGC>GTC		slit and trk like 3 protein precursor							57.0	52.0	54.0					3																	164908179		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908179C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.440G>T	3.37:g.164908179C>A	ENSP00000420091:p.Gly147Val	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G147V	p.G147V	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	884	-			147			LRR 3.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.440G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455876	0.63401	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.62941	-0.01;-0.01;-0.01	5.99	5.99	0.97316	.	0.000000	0.38436	N	0.001686	D	0.85703	0.5758	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88142	0.2845	10	0.87932	D	0	-13.7122	20.4756	0.99175	0.0:1.0:0.0:0.0	.	147	O94933	SLIK3_HUMAN	V	147	ENSP00000420091:G147V;ENSP00000241274:G147V;ENSP00000419611:G147V	ENSP00000241274:G147V	G	-	2	0	SLITRK3	166390873	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.818000	0.86416	2.847000	0.97988	0.655000	0.94253	GGC		PASS	0.373	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		45	165	45	165	---	---	---	---
GHSR	2693	broad.mit.edu	37	3	172166131	172166131	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:172166131G>A	ENST00000241256.2	-	1	115	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	GHSR_ENST00000427970.1_Missense_Mutation_p.P25S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	25					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.P25S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCGTTGCCGGGGGAAGCATCC	0.682																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(1)|central_nervous_system(1)	5						c.(73-75)CCC>TCC		growth hormone secretagogue receptor isoform 1a							27.0	27.0	27.0					3																	172166131		2202	4300	6502	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172166131G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.73C>T	3.37:g.172166131G>A	ENSP00000241256:p.Pro25Ser					GHSR_uc011bpv.1_Missense_Mutation_p.P25S	p.P25S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	73	-	Ovarian(172;0.00143)|Breast(254;0.197)		25			Extracellular (Potential).		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.73C>T	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	0.970	-0.700623	0.03279	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.66815	-0.23;0.09	3.62	0.763	0.18459	.	0.551802	0.17622	N	0.167698	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.0	T	0.12967	-1.0527	10	0.18710	T	0.47	-6.4915	3.6405	0.08165	0.2359:0.2097:0.5543:0.0	.	25;25	Q92847-2;Q92847	.;GHSR_HUMAN	S	25	ENSP00000241256:P25S;ENSP00000395344:P25S	ENSP00000241256:P25S	P	-	1	0	GHSR	173648825	0.529000	0.26322	0.000000	0.03702	0.363000	0.29612	0.575000	0.23729	0.137000	0.18759	0.462000	0.41574	CCC		PASS	0.682	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		9	46	9	46	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173993318	173993318	+	Splice_Site	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:173993318G>T	ENST00000457714.1	+	5	1288		c.e5+1		NLGN1_ENST00000545397.1_Splice_Site|NLGN1_ENST00000401917.3_Splice_Site|NLGN1_ENST00000466350.1_Splice_Site|NLGN1_ENST00000361589.4_Splice_Site	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1						alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAACCAAAGGTATTATGCAA	0.413																																						uc003fio.1																			1	Unknown(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.e5+1		neuroligin 1							55.0	54.0	55.0					3																	173993318		2203	4299	6502	SO:0001630	splice_region_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993318G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.859+1G>T	3.37:g.173993318G>T						NLGN1_uc010hww.1_Splice_Site_p.G327_splice|NLGN1_uc003fip.1_Splice_Site_p.G287_splice	p.G287_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1282	+	Ovarian(172;0.0025)							Q9UPT2	Splice_Site	SNP	ENST00000457714.1	37	c.859_splice	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661524	0.88154	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLGN1	175476012	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.624000	0.98398	2.937000	0.99478	0.650000	0.86243	.		PASS	0.413	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	Intron	66	87	66	87	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173998935	173998935	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:173998935G>T	ENST00000457714.1	+	7	2743	c.2314G>T	c.(2314-2316)Gat>Tat	p.D772Y	NLGN1_ENST00000545397.1_Missense_Mutation_p.D772Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D812Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D772Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	789					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.D772Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCACCTGATGATGTTCCCTT	0.453																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2314-2316)GAT>TAT		neuroligin 1							196.0	177.0	183.0					3																	173998935		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998935G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2314G>T	3.37:g.173998935G>T	ENSP00000392500:p.Asp772Tyr					NLGN1_uc003fip.1_Missense_Mutation_p.D772Y	p.D772Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2737	+	Ovarian(172;0.0025)		789			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2314G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817264	0.90790	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87301	0.6143	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87883	0.2679	10	0.87932	D	0	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	772	Q8N2Q7-2	.	Y	772;772;772;812	ENSP00000392500:D772Y;ENSP00000354541:D772Y;ENSP00000441108:D772Y;ENSP00000385750:D812Y	ENSP00000354541:D772Y	D	+	1	0	NLGN1	175481629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.793000	0.96121	0.591000	0.81541	GAT		PASS	0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		95	211	95	211	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184297702	184297702	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:184297702G>T	ENST00000330394.2	+	11	2604	c.2152G>T	c.(2152-2154)Gcc>Tcc	p.A718S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.A718S(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAAAACTGCGCCCTGGACTC	0.577																																						uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2152-2154)GCC>TCC		ephrin receptor EphB3 precursor							62.0	64.0	63.0					3																	184297702		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297702G>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2152G>T	3.37:g.184297702G>T	ENSP00000332118:p.Ala718Ser						p.A718S	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2589	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		718			Cytoplasmic (Potential).|Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.2152G>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636217	0.29068	.	.	ENSG00000182580	ENST00000330394	T	0.57107	0.42	4.98	4.11	0.48088	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	N	0.00116	-2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51092	-0.8749	10	0.02654	T	1	.	12.6771	0.56901	0.0801:0.0:0.9199:0.0	.	718	P54753	EPHB3_HUMAN	S	718	ENSP00000332118:A718S	ENSP00000332118:A718S	A	+	1	0	EPHB3	185780396	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	6.615000	0.74201	1.241000	0.43820	0.551000	0.68910	GCC		PASS	0.577	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		60	175	60	175	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192516749	192516749	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:192516749C>T	ENST00000392452.2	-	2	1222	c.902G>A	c.(901-903)tGc>tAc	p.C301Y		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	301							protein complex binding (GO:0032403)	p.C299Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGGAGATGCACTTCTTCAA	0.542																																						uc011bsp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(901-903)TGC>TAC		hypothetical protein LOC151963							38.0	34.0	35.0					3																	192516749		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516749C>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.902G>A	3.37:g.192516749C>T	ENSP00000376246:p.Cys301Tyr						p.C301Y	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1223	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		301					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.902G>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	C	7.650	0.682655	0.14907	.	.	ENSG00000180611	ENST00000392452	T	0.07688	3.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.51422	1.61	0.80722	D	1	P	0.43885	0.82	B	0.43623	0.425	T	0.04635	-1.0937	10	0.02654	T	1	-6.4487	17.9818	0.89144	0.0:1.0:0.0:0.0	.	301	Q8IYB1	M21D2_HUMAN	Y	301	ENSP00000376246:C301Y	ENSP00000376246:C301Y	C	-	2	0	MB21D2	193999443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.482000	0.83794	0.655000	0.94253	TGC		PASS	0.542	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		21	81	21	81	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193372726	193372726	+	Silent	SNP	G	G	T	rs138114609	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:193372726G>T	ENST00000392438.3	+	20	2157	c.1923G>T	c.(1921-1923)gcG>gcT	p.A641A	OPA1_ENST00000361828.2_Silent_p.A659A|OPA1_ENST00000361150.2_Silent_p.A642A|OPA1_ENST00000361908.3_Silent_p.A678A|OPA1_ENST00000361715.2_Silent_p.A660A|OPA1_ENST00000361510.2_Silent_p.A696A	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	641					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.A696A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCCAGCTGCGCAGACCATGA	0.373																																						uc003ftm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1921-1923)GCG>GCT		optic atrophy 1 isoform 1							88.0	84.0	85.0					3																	193372726		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193372726G>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1923G>T	3.37:g.193372726G>T						OPA1_uc003ftg.2_Silent_p.A696A|OPA1_uc003fth.2_Silent_p.A660A|OPA1_uc003fti.2_Silent_p.A678A|OPA1_uc003ftj.2_Silent_p.A659A|OPA1_uc003ftk.2_Silent_p.A642A|OPA1_uc003ftl.2_Silent_p.A623A|OPA1_uc003ftn.2_Silent_p.A605A	p.A641A	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	20	2157	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		641			Mitochondrial intermembrane (By similarity).		D3DNW4	Silent	SNP	ENST00000392438.3	37	c.1923G>T	CCDS43186.1																																																																																				PASS	0.373	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		20	117	20	117	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194373764	194373764	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:194373764C>G	ENST00000265245.5	-	8	1181	c.867G>C	c.(865-867)agG>agC	p.R289S		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	289	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R289S(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AAGGAGAATCCCTAGCTGGGA	0.478																																						uc003fui.2																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)AGG>AGC		large subunit GTPase 1							116.0	100.0	105.0					3																	194373764		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373764C>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.867G>C	3.37:g.194373764C>G	ENSP00000265245:p.Arg289Ser						p.R289S	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	8	1182	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		289					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.867G>C	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.883|8.883	0.952103|0.952103	0.18431|0.18431	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000437613|ENST00000265245	.|T	.|0.38722	.|1.12	4.69|4.69	-0.407|-0.407	0.12385|0.12385	.|.	.|0.760795	.|0.12870	.|N	.|0.432393	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.26395|0.26395	-1.0104|-1.0104	5|10	.|0.10111	.|T	.|0.7	.|.	4.0269|4.0269	0.09692|0.09692	0.1561:0.4796:0.0:0.3643|0.1561:0.4796:0.0:0.3643	.|.	.|289	.|Q9H089	.|LSG1_HUMAN	A|S	23|289	.|ENSP00000265245:R289S	.|ENSP00000265245:R289S	G|R	-|-	2|3	0|2	LSG1|LSG1	195855053|195855053	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.026000|0.026000	0.11368|0.11368	0.210000|0.210000	0.17455|0.17455	-0.206000|-0.206000	0.10203|0.10203	-0.229000|-0.229000	0.12294|0.12294	GGG|AGG		PASS	0.478	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		35	223	35	223	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195481244	195481244	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:195481244C>A	ENST00000346145.4	-	18	2500		c.e18-1		MUC4_ENST00000463781.3_Splice_Site|MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.?(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCAGCCACCTGGAGGAGGG	0.647																																						uc011bto.1																			3	Unknown(3)		lung(3)		0						c.e20-1		mucin 4 isoform a							30.0	33.0	32.0					3																	195481244		2203	4299	6502	SO:0001630	splice_region_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481244C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2461-1G>T	3.37:g.195481244C>A						MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Splice_Site_p.V655_splice|MUC4_uc003fva.2_Splice_Site_p.V537_splice|MUC4_uc003fvb.2_Splice_Site_p.V573_splice|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Splice_Site_p.V573_splice|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Splice_Site_p.V537_splice|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Splice_Site_p.V621_splice|MUC4_uc011bti.1_Splice_Site_p.V621_splice|MUC4_uc011btj.1_Splice_Site_p.V798_splice|MUC4_uc011btk.1_Splice_Site_p.V537_splice|MUC4_uc011btl.1_Splice_Site_p.V566_splice|MUC4_uc011btm.1_Splice_Site_p.V746_splice|MUC4_uc011btn.1_Splice_Site_p.V537_splice|MUC4_uc003fvo.2_Splice_Site_p.V821_splice|MUC4_uc003fvp.2_Splice_Site_p.V770_splice	p.V4929_splice	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	20	15245	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)						O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Splice_Site	SNP	ENST00000346145.4	37	c.14785_splice	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.333669	0.24167	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6746	0.77307	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC4	196966915	1.000000	0.71417	0.933000	0.37362	0.010000	0.07245	4.436000	0.59948	2.492000	0.84095	0.450000	0.29827	.		PASS	0.647	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	Intron	11	70	11	70	---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197640840	197640840	+	Missense_Mutation	SNP	C	C	A	rs141338847		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr3:197640840C>A	ENST00000265239.6	-	8	1224	c.800G>T	c.(799-801)cGc>cTc	p.R267L	IQCG_ENST00000455191.1_Missense_Mutation_p.R267L|IQCG_ENST00000453254.1_Missense_Mutation_p.R267L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	267						extracellular vesicular exosome (GO:0070062)		p.R267L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TTTCATGTAGCGATTCTCCAA	0.443																																						uc003fyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(799-801)CGC>CTC		IQ motif containing G							361.0	340.0	347.0					3																	197640840		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197640840C>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.800G>T	3.37:g.197640840C>A	ENSP00000265239:p.Arg267Leu					IQCG_uc003fyn.2_Missense_Mutation_p.R169L|IQCG_uc003fyp.2_Missense_Mutation_p.R267L|IQCG_uc003fyq.3_Missense_Mutation_p.R267L|IQCG_uc003fym.2_5'Flank	p.R267L	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	7	946	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		267					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.800G>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426180	0.25726	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254	T;T;T	0.49720	0.77;0.77;1.14	5.92	-1.31	0.09230	.	0.602852	0.16899	N	0.194978	T	0.28962	0.0719	L	0.38531	1.155	0.09310	N	0.999997	B;B	0.29253	0.239;0.018	B;B	0.26416	0.069;0.011	T	0.11179	-1.0598	10	0.30854	T	0.27	4.5066	4.6866	0.12760	0.2046:0.4588:0.0:0.3366	.	267;267	C9JKX8;Q9H095	.;IQCG_HUMAN	L	267	ENSP00000265239:R267L;ENSP00000407736:R267L;ENSP00000389897:R267L	ENSP00000265239:R267L	R	-	2	0	IQCG	199125237	0.000000	0.05858	0.192000	0.23308	0.577000	0.36160	-0.411000	0.07142	-0.593000	0.05844	-0.376000	0.06991	CGC		PASS	0.443	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		167	424	167	424	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16504392	16504392	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:16504392G>T	ENST00000304523.5	-	8	1319	c.996C>A	c.(994-996)aaC>aaA	p.N332K	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.N330K	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	332	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.N332K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CGTCCATGCCGTTGGCCGCAT	0.522																																						uc003goz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)AAC>AAA		LIM domain binding 2 isoform a							239.0	210.0	220.0					4																	16504392		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16504392G>T	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.996C>A	4.37:g.16504392G>T	ENSP00000306772:p.Asn332Lys					LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.N330K|LDB2_uc011bxh.1_Missense_Mutation_p.N304K|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.N207K|LDB2_uc011bxi.1_3'UTR	p.N332K	NM_001290	NP_001281	O43679	LDB2_HUMAN			8	1312	-			332			LIM-binding domain (LID) (By similarity).		O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.996C>A	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.036470|3.036470	0.54896|0.54896	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000304523|ENST00000507464	T;T|.	0.28255|.	1.62;1.62|.	5.48|5.48	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.67429|0.67429	0.2892|0.2892	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.993;0.997;0.998;0.999|.	D;D;D;D|.	0.83275|.	0.962;0.951;0.992;0.996|.	T|T	0.68800|0.68800	-0.5313|-0.5313	10|5	0.72032|.	D|.	0.01|.	-23.5968|-23.5968	6.8476|6.8476	0.23996|0.23996	0.2667:0.0:0.7333:0.0|0.2667:0.0:0.7333:0.0	.|.	296;330;332;306|.	B7Z6D0;G5E9Y7;O43679;O43679-3|.	.;.;LDB2_HUMAN;.|.	K|K	330;332|253	ENSP00000422552:N330K;ENSP00000306772:N332K|.	ENSP00000306772:N332K|.	N|T	-|-	3|2	2|0	LDB2|LDB2	16113490|16113490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.403000|2.403000	0.44530|0.44530	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	AAC|ACG		PASS	0.522	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			118	139	118	139	---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47809040	47809040	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:47809040T>C	ENST00000273857.4	-	2	87	c.88A>G	c.(88-90)Atg>Gtg	p.M30V	CORIN_ENST00000505909.1_Missense_Mutation_p.M30V|CORIN_ENST00000502252.1_Missense_Mutation_p.M30V|CORIN_ENST00000504584.1_Missense_Mutation_p.M30V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	30					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.M30V(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCATTGCCCATGTTATTGTCA	0.433																																						uc003gxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(88-90)ATG>GTG		corin							100.0	86.0	91.0					4																	47809040		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47809040T>C	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.88A>G	4.37:g.47809040T>C	ENSP00000273857:p.Met30Val					CORIN_uc011bzg.1_Missense_Mutation_p.M30V|CORIN_uc011bzh.1_Missense_Mutation_p.M30V|CORIN_uc011bzi.1_Missense_Mutation_p.M30V|CORIN_uc003gxn.3_Missense_Mutation_p.M30V	p.M30V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			2	181	-			30			Cytoplasmic (Potential).		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.88A>G	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	2.074	-0.412418	0.04799	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.92299	-2.48;-2.57;-2.39;-3.01	4.95	-1.71	0.08133	.	0.514767	0.19709	N	0.107841	T	0.78136	0.4236	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.64123	-0.6481	10	0.07325	T	0.83	.	6.8666	0.24096	0.0:0.3502:0.1203:0.5294	.	30;30;30;30	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	V	30	ENSP00000273857:M30V;ENSP00000424212:M30V;ENSP00000425401:M30V;ENSP00000423216:M30V	ENSP00000273857:M30V	M	-	1	0	CORIN	47503797	0.015000	0.18098	0.001000	0.08648	0.041000	0.13682	-0.099000	0.11007	-0.450000	0.07107	-0.263000	0.10527	ATG		PASS	0.433	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			3	41	3	41	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70078389	70078389	+	Missense_Mutation	SNP	T	T	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:70078389T>G	ENST00000446444.1	-	2	780	c.772A>C	c.(772-774)Atg>Ctg	p.M258L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	258					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.M258L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGTTTCGCATAAGCCATATG	0.393																																						uc003heh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(772-774)ATG>CTG		UDP glucuronosyltransferase 2 family,							140.0	147.0	145.0					4																	70078389		2203	4299	6502	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70078389T>G	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.772A>C	4.37:g.70078389T>G	ENSP00000387683:p.Met258Leu					uc003hei.1_Intron	p.M258L	NM_001073	NP_001064	O75310	UDB11_HUMAN			2	781	-			258					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.772A>C	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	2.233	-0.375714	0.05034	.	.	ENSG00000213759	ENST00000446444	T	0.49720	0.77	1.96	0.458	0.16670	.	0.211790	0.39985	U	0.001205	T	0.19167	0.0460	N	0.04373	-0.215	0.22701	N	0.998835	B	0.02656	0.0	B	0.06405	0.002	T	0.14282	-1.0478	10	0.22706	T	0.39	.	5.4452	0.16531	0.0:0.1694:0.0:0.8306	.	258	O75310	UDB11_HUMAN	L	258	ENSP00000387683:M258L	ENSP00000387683:M258L	M	-	1	0	UGT2B11	70112978	1.000000	0.71417	0.105000	0.21289	0.027000	0.11550	5.126000	0.64721	-0.010000	0.14271	0.155000	0.16302	ATG		PASS	0.393	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		12	213	12	213	---	---	---	---
MEPE	56955	broad.mit.edu	37	4	88766576	88766576	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:88766576T>C	ENST00000424957.3	+	4	629	c.556T>C	c.(556-558)Tat>Cat	p.Y186H	MEPE_ENST00000560249.1_Missense_Mutation_p.Y73H|MEPE_ENST00000395102.4_Missense_Mutation_p.Y217H|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.Y73H|MEPE_ENST00000361056.3_Missense_Mutation_p.Y186H|MEPE_ENST00000497649.2_Missense_Mutation_p.Y162H	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	186					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.Y186H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGTATGAATTATGCTAAAGC	0.408																																						uc003hqy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(556-558)TAT>CAT		matrix, extracellular phosphoglycoprotein with							75.0	81.0	79.0					4																	88766576		2203	4300	6503	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766576T>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.556T>C	4.37:g.88766576T>C	ENSP00000416984:p.Tyr186His					MEPE_uc010ikn.2_Missense_Mutation_p.Y73H	p.Y186H	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	4	595	+		Hepatocellular(203;0.114)	186					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.556T>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006267	0.35415	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.46451	4.2;0.87;0.87;0.89;4.2	4.84	-2.18	0.07037	.	0.953137	0.08681	N	0.909401	T	0.35278	0.0926	M	0.63843	1.955	0.09310	N	1	P	0.40250	0.709	B	0.42593	0.392	T	0.27123	-1.0083	10	0.38643	T	0.18	-3.7289	0.1603	0.00102	0.3033:0.18:0.1566:0.3602	.	186	Q9NQ76	MEPE_HUMAN	H	186;186;217;162;73;186	ENSP00000416984:Y186H;ENSP00000378534:Y217H;ENSP00000422747:Y162H;ENSP00000443491:Y73H;ENSP00000354341:Y186H	ENSP00000354341:Y186H	Y	+	1	0	MEPE	88985600	0.001000	0.12720	0.006000	0.13384	0.016000	0.09150	-0.816000	0.04477	-0.518000	0.06452	0.533000	0.62120	TAT		PASS	0.408	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			49	62	49	62	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96171649	96171649	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:96171649A>T	ENST00000453304.1	-	5	1112	c.764T>A	c.(763-765)gTc>gAc	p.V255D	UNC5C_ENST00000504962.1_Missense_Mutation_p.V255D|UNC5C_ENST00000506749.1_Missense_Mutation_p.V255D	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	255	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.V255D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAGACTATGACAGTGGCAGT	0.433																																						uc003htp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(763-765)GTC>GAC		unc5C precursor							109.0	103.0	105.0					4																	96171649		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96171649A>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.764T>A	4.37:g.96171649A>T	ENSP00000406022:p.Val255Asp					UNC5C_uc010ilc.1_Missense_Mutation_p.V255D|UNC5C_uc003htq.2_Missense_Mutation_p.V255D	p.V255D	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	5	918	-		Hepatocellular(203;0.114)	255			Extracellular (Potential).|Ig-like C2-type.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.764T>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477570	0.84640	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.6	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.93763	3.455	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.81914	0.992;0.995;0.992	T	0.83041	-0.0157	10	0.87932	D	0	.	14.4434	0.67333	1.0:0.0:0.0:0.0	.	255;255;255	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	D	255;214;255;255;255	ENSP00000406022:V255D;ENSP00000426924:V255D;ENSP00000426153:V255D;ENSP00000425117:V255D	ENSP00000328673:V214D	V	-	2	0	UNC5C	96390672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	2.056000	0.61249	0.460000	0.39030	GTC		PASS	0.433	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		44	52	44	52	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123264619	123264619	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr4:123264619C>T	ENST00000264501.4	+	73	12780	c.12407C>T	c.(12406-12408)tCa>tTa	p.S4136L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4136L			Q2LD37	K1109_HUMAN	KIAA1109	4136	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4136L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTAGTCAGTCAGACCTGACC	0.438																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12406-12408)TCA>TTA		fragile site-associated protein							107.0	101.0	103.0					4																	123264619		1976	4161	6137	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123264619C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12407C>T	4.37:g.123264619C>T	ENSP00000264501:p.Ser4136Leu					KIAA1109_uc003iem.2_Missense_Mutation_p.S492L|KIAA1109_uc003ien.2_Missense_Mutation_p.S70L	p.S4136L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			71	12452	+			4136			Ser-rich.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.12407C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.596347|5.596347	0.96602|0.96602	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.34275	.|2.27;2.27;1.37	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.53834	.|0.1821	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.989;0.993	.|D;D	.|0.75020	.|0.985;0.977	.|T	.|0.43507	.|-0.9387	.|10	.|0.42905	.|T	.|0.14	.|.	20.2187|20.2187	0.98312|0.98312	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4135;4136	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	X|L	512|4136;4136;805	.|ENSP00000264501:S4136L;ENSP00000373390:S4136L;ENSP00000410874:S805L	.|ENSP00000264501:S4136L	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123484069|123484069	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	7.818000|7.818000	0.86416|0.86416	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CAG|TCA		PASS	0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		64	64	64	64	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10403543	10403543	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:10403543G>C	ENST00000274140.5	+	15	1354	c.1222G>C	c.(1222-1224)Gat>Cat	p.D408H	MARCH6_ENST00000503788.1_Missense_Mutation_p.D303H|MARCH6_ENST00000510792.1_Missense_Mutation_p.D106H|MARCH6_ENST00000449913.2_Missense_Mutation_p.D360H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	408					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D408H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TACTCTGAAAGATCGAGAACT	0.423																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1222-1224)GAT>CAT		membrane-associated ring finger (C3HC4) 6							147.0	133.0	138.0					5																	10403543		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10403543G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1222G>C	5.37:g.10403543G>C	ENSP00000274140:p.Asp408His					MARCH6_uc011cmu.1_Missense_Mutation_p.D360H|MARCH6_uc003jeu.1_Missense_Mutation_p.D106H|MARCH6_uc011cmv.1_Missense_Mutation_p.D303H	p.D408H	NM_005885	NP_005876	O60337	MARH6_HUMAN			15	1405	+			408			Extracellular (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1222G>C	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405758	0.96051	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.64260	1.97	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.71414	0.951;0.973;0.942	T	0.59915	-0.7364	10	0.41790	T	0.15	-27.6405	19.4918	0.95052	0.0:0.0:1.0:0.0	.	303;360;408	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	360;303;408;106	ENSP00000414643:D360H;ENSP00000425930:D303H;ENSP00000274140:D408H;ENSP00000424512:D106H	ENSP00000274140:D408H	D	+	1	0	MARCH6	10456543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.505000	0.97989	2.616000	0.88540	0.557000	0.71058	GAT		PASS	0.423	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		9	203	9	203	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14485270	14485270	+	Missense_Mutation	SNP	T	T	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:14485270T>G	ENST00000344204.4	+	47	6774	c.6750T>G	c.(6748-6750)atT>atG	p.I2250M	TRIO_ENST00000537187.1_Missense_Mutation_p.I2250M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2250	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I2250M(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)					AGACCTTCATTTTGCATTCAT	0.408																																						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.(6748-6750)ATT>ATG		triple functional domain (PTPRF interacting)							144.0	135.0	138.0					5																	14485270		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14485270T>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.6750T>G	5.37:g.14485270T>G	ENSP00000339299:p.Ile2250Met					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899M	p.I2250M	NM_007118	NP_009049	O75962	TRIO_HUMAN			47	6756	+	Lung NSC(4;0.000742)		2250			PH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6750T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329528	0.60743	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.27402	1.67;1.67	5.34	1.76	0.24704	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.397630	0.28488	N	0.015180	T	0.32496	0.0831	L	0.51914	1.62	0.29882	N	0.825939	P;B	0.41102	0.738;0.077	P;B	0.46796	0.527;0.092	T	0.22138	-1.0225	10	0.62326	D	0.03	.	8.1681	0.31239	0.0:0.2392:0.0:0.7608	.	2250;2250	O75962-5;O75962	.;TRIO_HUMAN	M	2250;2250;1937	ENSP00000339299:I2250M;ENSP00000446348:I2250M	ENSP00000339299:I2250M	I	+	3	3	TRIO	14538270	0.654000	0.27367	0.998000	0.56505	0.997000	0.91878	-0.091000	0.11146	0.364000	0.24374	0.528000	0.53228	ATT		PASS	0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		67	86	67	86	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45396618	45396618	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:45396618A>G	ENST00000303230.4	-	4	1263	c.1206T>C	c.(1204-1206)tcT>tcC	p.S402S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	402					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.S402S(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						GCCGCCTCGAAGAATCCAGAG	0.453																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1204-1206)TCT>TCC		hyperpolarization activated cyclic							52.0	51.0	51.0					5																	45396618		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396618A>G	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.1206T>C	5.37:g.45396618A>G							p.S402S	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1231	-			402			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1206T>C	CCDS3952.1																																																																																				PASS	0.453	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		21	24	21	24	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52358644	52358644	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:52358644G>C	ENST00000296585.5	+	13	1630	c.1487G>C	c.(1486-1488)tGt>tCt	p.C496S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	496					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.C496S(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)				AGTGTGCTGTGTTCAGTTGAT	0.378																																						uc003joy.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1486-1488)TGT>TCT		integrin alpha 2 precursor							211.0	195.0	201.0					5																	52358644		2203	4300	6503	SO:0001583	missense	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.chr5:52358644G>C		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.1487G>C	5.37:g.52358644G>C	ENSP00000296585:p.Cys496Ser					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.C420S|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.C496S	NM_002203	NP_002194	P17301	ITA2_HUMAN			13	1630	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	496			FG-GAP 5.|Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1487G>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039161	0.55003	.	.	ENSG00000164171	ENST00000296585	T	0.37235	1.21	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.642;0.999	T	0.55903	-0.8067	10	0.48119	T	0.1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	496;496	E7ESP4;P17301	.;ITA2_HUMAN	S	496	ENSP00000296585:C496S	ENSP00000296585:C496S	C	+	2	0	ITGA2	52394401	1.000000	0.71417	0.957000	0.39632	0.790000	0.44656	9.444000	0.97578	2.824000	0.97209	0.655000	0.94253	TGT		PASS	0.378	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		94	141	94	141	---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87492090	87492090	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:87492090C>G	ENST00000296595.6	-	12	1526	c.1402G>C	c.(1402-1404)Gct>Cct	p.A468P	TMEM161B_ENST00000512429.1_Missense_Mutation_p.A457P|TMEM161B_ENST00000515293.1_5'Flank|TMEM161B_ENST00000506536.1_3'UTR|TMEM161B_ENST00000511218.1_Missense_Mutation_p.A259P|TMEM161B_ENST00000514135.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	468						integral component of membrane (GO:0016021)		p.A468P(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAGAGGCAAGCAGCAATCCAC	0.388																																						uc003kjc.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1402-1404)GCT>CCT		transmembrane protein 161B							49.0	50.0	49.0					5																	87492090		2203	4299	6502	SO:0001583	missense	153396					integral to membrane		g.chr5:87492090C>G	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1402G>C	5.37:g.87492090C>G	ENSP00000296595:p.Ala468Pro					TMEM161B_uc011cty.1_Missense_Mutation_p.A457P|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A259P	p.A468P	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	12	1527	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	468			Helical; (Potential).		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1402G>C	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970535	0.74246	.	.	ENSG00000164180	ENST00000296595;ENST00000511218;ENST00000512429	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78278	0.4258	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.72534	-0.4264	9	0.32370	T	0.25	-45.3596	20.6593	0.99626	0.0:1.0:0.0:0.0	.	259;468	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	P	468;259;457	.	ENSP00000296595:A468P	A	-	1	0	TMEM161B	87527846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.463000	0.80869	2.885000	0.99019	0.655000	0.94253	GCT		PASS	0.388	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		24	39	24	39	---	---	---	---
WNT8A	7478	broad.mit.edu	37	5	137426719	137426719	+	Missense_Mutation	SNP	G	G	C	rs375752131	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:137426719G>C	ENST00000398754.1	+	6	1018	c.1013G>C	c.(1012-1014)cGc>cCc	p.R338P	WNT8A_ENST00000506684.1_Missense_Mutation_p.R356P	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	338					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R338P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACTGCGCACGCTCCCCAGGC	0.507																																						uc003lcd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(1012-1014)CGC>CCC		wingless-type MMTV integration site family,							106.0	101.0	103.0					5																	137426719		2030	4190	6220	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137426719G>C	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.1013G>C	5.37:g.137426719G>C	ENSP00000381739:p.Arg338Pro					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Intron|WNT8A_uc011cyk.1_Missense_Mutation_p.R356P	p.R338P	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1018	+			338					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.1013G>C	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818836	0.32145	.	.	ENSG00000061492	ENST00000506684;ENST00000398754	T;T	0.76578	-0.92;-1.03	4.58	1.86	0.25419	.	0.471600	0.21621	N	0.071651	T	0.64638	0.2616	N	0.25647	0.755	0.09310	N	1	B;P	0.44946	0.016;0.846	B;B	0.42188	0.024;0.379	T	0.58137	-0.7689	10	0.87932	D	0	.	8.1385	0.31069	0.2411:0.0:0.7589:0.0	.	356;338	D6RF47;Q9H1J5	.;WNT8A_HUMAN	P	356;338	ENSP00000426653:R356P;ENSP00000381739:R338P	ENSP00000354726:R338P	R	+	2	0	WNT8A	137454618	0.001000	0.12720	0.075000	0.20258	0.132000	0.20833	0.687000	0.25407	0.207000	0.20607	0.557000	0.71058	CGC		PASS	0.507	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		34	72	34	72	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140724612	140724612	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:140724612C>G	ENST00000253812.6	+	1	1012	c.1012C>G	c.(1012-1014)Ctg>Gtg	p.L338V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L338V(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCACGGTTCTGGATGTGAA	0.423																																						uc003ljm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1012-1014)CTG>GTG		protocadherin gamma subfamily A, 3 isoform 1							85.0	89.0	88.0					5																	140724612		2061	4238	6299	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724612C>G	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1012C>G	5.37:g.140724612C>G	ENSP00000253812:p.Leu338Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L98V|PCDHGA3_uc011dap.1_Missense_Mutation_p.L338V	p.L338V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1012	+			338			Cadherin 3.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1012C>G	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	6.774	0.511644	0.12944	.	.	ENSG00000254245	ENST00000253812	T	0.01685	4.69	5.41	2.34	0.29019	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.378426	0.14430	U	0.320057	T	0.01523	0.0049	L	0.28776	0.89	0.09310	N	0.999997	B;B	0.22003	0.063;0.019	B;B	0.24006	0.03;0.05	T	0.47407	-0.9120	10	0.32370	T	0.25	.	3.5559	0.07863	0.2245:0.281:0.408:0.0865	.	338;338	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	338	ENSP00000253812:L338V	ENSP00000253812:L338V	L	+	1	2	PCDHGA3	140704796	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-1.295000	0.02764	0.753000	0.32945	0.655000	0.94253	CTG		PASS	0.423	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		49	65	49	65	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149754232	149754232	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:149754232A>T	ENST00000504761.2	+	9	1136	c.1136A>T	c.(1135-1137)aAg>aTg	p.K379M	TCOF1_ENST00000445265.2_Missense_Mutation_p.K302M|TCOF1_ENST00000394269.3_Missense_Mutation_p.K379M|TCOF1_ENST00000451292.1_Missense_Mutation_p.K379M|TCOF1_ENST00000323668.7_Missense_Mutation_p.K302M|TCOF1_ENST00000439160.2_Missense_Mutation_p.K379M|TCOF1_ENST00000513346.1_Missense_Mutation_p.K379M|TCOF1_ENST00000377797.3_Missense_Mutation_p.K379M			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	379					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K302M(1)|p.K379M(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCCTGCCAAGGAGTCCCCC	0.652																																						uc003lry.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1135-1137)AAG>ATG		Treacher Collins-Franceschetti syndrome 1							42.0	49.0	47.0					5																	149754232		2202	4298	6500	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149754232A>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1136A>T	5.37:g.149754232A>T	ENSP00000421655:p.Lys379Met					TCOF1_uc003lrw.2_Missense_Mutation_p.K379M|TCOF1_uc011dch.1_Missense_Mutation_p.K379M|TCOF1_uc003lrz.2_Missense_Mutation_p.K379M|TCOF1_uc003lrx.2_Missense_Mutation_p.K302M|TCOF1_uc003lsa.2_Missense_Mutation_p.K302M|TCOF1_uc011dci.1_5'Flank	p.K379M	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1244	+		all_hematologic(541;0.224)	379					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.1136A>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044020	0.75732	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	3.52	2.35	0.29111	Treacher Collins syndrome, treacle (1);	0.341226	0.21099	N	0.080199	T	0.78181	0.4243	M	0.80183	2.485	0.35397	D	0.791248	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.995;0.994;0.995;0.996;0.994;0.987	T	0.79955	-0.1585	10	0.72032	D	0.01	.	5.5957	0.17325	0.8624:0.0:0.1376:0.0	.	379;302;379;379;302;379	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;TCOF_HUMAN;.;.	M	379;379;302;302;379;379;379;379;379	ENSP00000400939:K379M;ENSP00000367028:K379M;ENSP00000409944:K302M;ENSP00000325223:K302M;ENSP00000406888:K379M;ENSP00000377811:K379M;ENSP00000390717:K379M;ENSP00000421655:K379M;ENSP00000427484:K379M	ENSP00000325223:K302M	K	+	2	0	TCOF1	149734425	0.998000	0.40836	0.605000	0.28930	0.807000	0.45602	1.051000	0.30417	0.530000	0.28619	0.260000	0.18958	AAG		PASS	0.652	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		10	32	10	32	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167920938	167920938	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr5:167920938A>G	ENST00000231572.3	+	4	463	c.409A>G	c.(409-411)Att>Gtt	p.I137V	RARS_ENST00000538719.1_Intron	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	137				REI -> GEF (in Ref. 1; AAB35627). {ECO:0000305}.	arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I137V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TCCAAGAGAAATTGCTGAAAA	0.338																																						uc003lzx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(409-411)ATT>GTT		arginyl-tRNA synthetase							128.0	121.0	124.0					5																	167920938		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167920938A>G	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.409A>G	5.37:g.167920938A>G	ENSP00000231572:p.Ile137Val					RARS_uc011deo.1_Intron	p.I137V	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	4	450	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	137	REI -> GEF (in Ref. 1; AAB35627).				B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.409A>G	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269200	0.23221	.	.	ENSG00000113643	ENST00000231572	T	0.52526	0.66	5.93	5.93	0.95920	Arginyl tRNA synthetase, class Ia, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	N	0.25825	0.765	0.80722	D	1	B	0.16166	0.016	B	0.25291	0.059	T	0.17410	-1.0370	10	0.17832	T	0.49	-20.0491	16.3797	0.83452	1.0:0.0:0.0:0.0	.	137	P54136	SYRC_HUMAN	V	137	ENSP00000231572:I137V	ENSP00000231572:I137V	I	+	1	0	RARS	167853516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.671000	0.91174	2.271000	0.75665	0.533000	0.62120	ATT		PASS	0.338	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		27	42	27	42	---	---	---	---
HIST1H4C	8364	broad.mit.edu	37	6	26104417	26104417	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:26104417C>T	ENST00000377803.2	+	1	314	c.242C>T	c.(241-243)aCt>aTt	p.T81I		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	81					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.T81I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAGCGCAAAACTGTCACAGCC	0.502																																						uc003ngi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)ACT>ATT		histone cluster 1, H4c							73.0	65.0	68.0					6																	26104417		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104417C>T	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.242C>T	6.37:g.26104417C>T	ENSP00000367034:p.Thr81Ile						p.T81I	NM_003542	NP_003533	P62805	H4_HUMAN			1	242	+			81					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.242C>T	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742355	0.49151	.	.	ENSG00000197061	ENST00000377803	T	0.78003	-1.14	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.83229	0.5209	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84754	0.0758	7	0.59425	D	0.04	.	16.8557	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	I	81	ENSP00000367034:T81I	ENSP00000367034:T81I	T	+	2	0	HIST1H4C	26212396	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	7.651000	0.83577	2.533000	0.85409	0.555000	0.69702	ACT		PASS	0.502	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		79	45	79	45	---	---	---	---
OR2W1	26692	broad.mit.edu	37	6	29012897	29012897	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:29012897T>C	ENST00000377175.1	-	1	120	c.56A>G	c.(55-57)aAc>aGc	p.N19S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N19S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTTTGGATGGTTAGAGAAGCC	0.413																																						uc003nlw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(55-57)AAC>AGC		olfactory receptor, family 2, subfamily W,							105.0	113.0	110.0					6																	29012897		1412	2664	4076	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012897T>C	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.56A>G	6.37:g.29012897T>C	ENSP00000366380:p.Asn19Ser						p.N19S	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	56	-			19			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.56A>G	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	T	9.010	0.982177	0.18889	.	.	ENSG00000204704	ENST00000377175	T	0.00316	8.13	4.45	3.18	0.36537	.	0.116481	0.38436	N	0.001696	T	0.00039	0.0001	N	0.20807	0.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50101	-0.8867	10	0.59425	D	0.04	.	4.238	0.10635	0.0:0.1075:0.2082:0.6843	.	19	Q9Y3N9	OR2W1_HUMAN	S	19	ENSP00000366380:N19S	ENSP00000366380:N19S	N	-	2	0	OR2W1	29120876	0.000000	0.05858	0.989000	0.46669	0.381000	0.30169	-0.062000	0.11674	1.762000	0.52044	0.477000	0.44152	AAC		PASS	0.413	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			62	224	62	224	---	---	---	---
OOEP	441161	broad.mit.edu	37	6	74079068	74079068	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:74079068G>T	ENST00000370359.5	-	2	230	c.231C>A	c.(229-231)agC>agA	p.S77R	OOEP_ENST00000370363.1_Missense_Mutation_p.S22R|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	77	KH; atypical.				cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)	p.S77R(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCAGGGCCTGGCTCGTCCACT	0.542																																						uc003pgu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)AGC>AGA		oocyte expressed protein homolog							38.0	37.0	37.0					6																	74079068		1968	4129	6097	SO:0001583	missense	441161					cytoplasm		g.chr6:74079068G>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.231C>A	6.37:g.74079068G>T	ENSP00000359384:p.Ser77Arg					OOEP_uc003pgv.3_Missense_Mutation_p.S22R	p.S77R	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			2	231	-			77			KH; atypical.		A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.231C>A	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052634	0.55218	.	.	ENSG00000203907	ENST00000370363;ENST00000370359;ENST00000441145	T;T;T	0.12879	2.64;2.64;2.64	3.93	3.06	0.35304	.	0.338646	0.26016	N	0.026841	T	0.16769	0.0403	M	0.74881	2.28	0.24806	N	0.992679	D;D	0.63046	0.98;0.992	P;P	0.60541	0.814;0.876	T	0.02196	-1.1197	10	0.66056	D	0.02	-7.9637	7.7189	0.28721	0.1139:0.0:0.8861:0.0	.	22;77	F2Z364;A6NGQ2	.;OOEP_HUMAN	R	22;77;22	ENSP00000359388:S22R;ENSP00000359384:S77R;ENSP00000397430:S22R	ENSP00000359384:S77R	S	-	3	2	OOEP	74135789	1.000000	0.71417	0.715000	0.30552	0.016000	0.09150	1.248000	0.32827	1.248000	0.43934	0.655000	0.94253	AGC		PASS	0.542	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		15	10	15	10	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96986576	96986576	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:96986576A>T	ENST00000369278.4	+	10	1114	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	350					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.S350C(1)									GAGGGCATTCAGCAAACAGGC	0.398																																						uc003por.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)AGC>TGC		hypothetical protein LOC23376							83.0	78.0	80.0					6																	96986576		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96986576A>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1048A>T	6.37:g.96986576A>T	ENSP00000358283:p.Ser350Cys					KIAA0776_uc010kck.2_RNA	p.S350C	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	10	1096	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	350					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.1048A>T	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212515	0.58452	.	.	ENSG00000014123	ENST00000369278	T	0.46063	0.88	5.83	3.44	0.39384	.	0.248409	0.51477	D	0.000093	T	0.14184	0.0343	L	0.44542	1.39	0.28128	N	0.930304	P	0.48503	0.911	B	0.38562	0.276	T	0.07751	-1.0756	10	0.56958	D	0.05	-0.728	5.6837	0.17790	0.7703:0.0:0.0803:0.1494	.	350	O94874	UFL1_HUMAN	C	350	ENSP00000358283:S350C	ENSP00000358283:S350C	S	+	1	0	KIAA0776	97093297	1.000000	0.71417	0.983000	0.44433	0.963000	0.63663	6.547000	0.73892	0.462000	0.27095	0.533000	0.62120	AGC		PASS	0.398	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		77	48	77	48	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101075504	101075504	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:101075504C>A	ENST00000369162.2	-	29	4948	c.4604G>T	c.(4603-4605)tGt>tTt	p.C1535F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1535					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.C1535F(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CATACGAGGACAGTAATGTTG	0.403																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(4603-4605)TGT>TTT		activating signal cointegrator 1 complex subunit							96.0	88.0	91.0					6																	101075504		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075504C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4604G>T	6.37:g.101075504C>A	ENSP00000358159:p.Cys1535Phe						p.C1535F	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4933	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1535					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4604G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344140	0.82022	.	.	ENSG00000112249	ENST00000369162	D	0.90955	-2.76	5.67	5.67	0.87782	.	0.113518	0.64402	D	0.000005	D	0.94618	0.8265	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94293	0.7530	10	0.62326	D	0.03	.	19.7584	0.96304	0.0:1.0:0.0:0.0	.	1535	Q8N3C0	HELC1_HUMAN	F	1535	ENSP00000358159:C1535F	ENSP00000358159:C1535F	C	-	2	0	ASCC3	101182225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.757000	0.85209	2.672000	0.90937	0.555000	0.69702	TGT		PASS	0.403	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		6	126	6	126	---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107824935	107824935	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:107824935G>C	ENST00000317357.5	+	2	830	c.171G>C	c.(169-171)gaG>gaC	p.E57D		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.E57D(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AAGATGGTGAGGATATTGAAT	0.408																																						uc003prx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)GAG>GAC		sine oculis binding protein homolog							139.0	132.0	134.0					6																	107824935		1854	4092	5946	SO:0001583	missense	55084						metal ion binding	g.chr6:107824935G>C	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.171G>C	6.37:g.107824935G>C	ENSP00000318900:p.Glu57Asp					SOBP_uc003prw.1_Missense_Mutation_p.E57D	p.E57D	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	675	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	57						Missense_Mutation	SNP	ENST00000317357.5	37	c.171G>C	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325564	0.41197	.	.	ENSG00000112320	ENST00000317357	T	0.12255	2.7	5.52	4.16	0.48862	.	0.053828	0.64402	D	0.000001	T	0.02455	0.0075	N	0.08118	0	0.39680	D	0.97088	B	0.23442	0.085	B	0.21360	0.034	T	0.40459	-0.9562	10	0.29301	T	0.29	-8.7558	10.7825	0.46386	0.8499:0.0:0.1501:0.0	.	57	A7XYQ1	SOBP_HUMAN	D	57	ENSP00000318900:E57D	ENSP00000318900:E57D	E	+	3	2	SOBP	107931628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.097000	0.41748	0.934000	0.37316	-0.254000	0.11334	GAG		PASS	0.408	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		104	70	104	70	---	---	---	---
SMPD2	6610	broad.mit.edu	37	6	109763467	109763467	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:109763467C>G	ENST00000258052.3	+	5	732	c.373C>G	c.(373-375)Cta>Gta	p.L125V	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	125					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.L125V(1)		endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGTGCTCCATCTAAGTGGCAT	0.572																																						uc003pti.2																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)CTA>GTA		sphingomyelin phosphodiesterase 2, neutral							146.0	129.0	134.0					6																	109763467		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109763467C>G	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.373C>G	6.37:g.109763467C>G	ENSP00000258052:p.Leu125Val					PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	p.L125V	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	5	767	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	125					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.373C>G	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	C	3.404	-0.121633	0.06838	.	.	ENSG00000135587	ENST00000258052	T	0.27720	1.65	4.9	2.91	0.33838	Endonuclease/exonuclease/phosphatase (2);	0.325086	0.28983	N	0.013512	T	0.02848	0.0085	N	0.00760	-1.21	0.22771	N	0.998754	B	0.27700	0.186	B	0.35470	0.203	T	0.47195	-0.9136	10	0.07644	T	0.81	-3.5297	9.3462	0.38109	0.4168:0.5832:0.0:0.0	.	125	O60906	NSMA_HUMAN	V	125	ENSP00000258052:L125V	ENSP00000258052:L125V	L	+	1	2	SMPD2	109870160	0.999000	0.42202	0.886000	0.34754	0.695000	0.40330	1.302000	0.33459	1.259000	0.44117	0.561000	0.74099	CTA		PASS	0.572	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			48	34	48	34	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131910675	131910675	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:131910675T>C	ENST00000368068.3	-	28	4048	c.3869A>G	c.(3868-3870)tAc>tGc	p.Y1290C	MED23_ENST00000368058.1_Missense_Mutation_p.Y1296C|MED23_ENST00000403834.3_Missense_Mutation_p.Y1296C|MED23_ENST00000545957.1_Missense_Mutation_p.Y931C|MED23_ENST00000354577.4_Missense_Mutation_p.Y1296C|MED23_ENST00000368060.3_Missense_Mutation_p.Y1290C|MED23_ENST00000479213.1_5'UTR	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1290					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.Y1296C(1)|p.Y1290C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGGATCCATGTAATTTAAATG	0.328																																						uc003qcs.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3868-3870)TAC>TGC		mediator complex subunit 23 isoform a							85.0	80.0	82.0					6																	131910675		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131910675T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3869A>G	6.37:g.131910675T>C	ENSP00000357047:p.Tyr1290Cys					MED23_uc003qcq.2_Missense_Mutation_p.Y1296C|MED23_uc003qcr.1_Missense_Mutation_p.Y145C	p.Y1290C	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	28	4043	-	Breast(56;0.0753)		1290					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3869A>G	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505645	0.44558	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.23	5.23	0.72850	.	0.113372	0.64402	D	0.000008	T	0.68714	0.3031	L	0.39898	1.24	0.80722	D	1	B;B	0.22146	0.065;0.053	B;B	0.30716	0.119;0.073	T	0.72478	-0.4281	10	0.72032	D	0.01	-12.5223	10.3686	0.44039	0.1463:0.0:0.0:0.8537	.	1290;1296	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	C	1296;1290;1296;1290;1296;931	ENSP00000346588:Y1296C;ENSP00000357047:Y1290C;ENSP00000384536:Y1296C;ENSP00000357039:Y1290C;ENSP00000357037:Y1296C;ENSP00000439977:Y931C	ENSP00000346588:Y1296C	Y	-	2	0	MED23	131952368	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.287000	0.51732	1.981000	0.57761	0.482000	0.46254	TAC		PASS	0.328	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			57	123	57	123	---	---	---	---
MYB	4602	broad.mit.edu	37	6	135507133	135507133	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:135507133G>C	ENST00000367814.4	+	2	302	c.116G>C	c.(115-117)gGg>gCg	p.G39A	MYB_ENST00000533624.1_Missense_Mutation_p.G39A|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000442647.2_Missense_Mutation_p.G39A|MYB_ENST00000420123.2_Missense_Mutation_p.G39A|MYB_ENST00000316528.8_Missense_Mutation_p.G39A|MYB_ENST00000341911.5_Missense_Mutation_p.G39A|MYB_ENST00000534044.1_Missense_Mutation_p.G39A|MYB_ENST00000527615.1_Missense_Mutation_p.G39A|MYB_ENST00000534121.1_Missense_Mutation_p.G39A|MYB_ENST00000528774.1_Missense_Mutation_p.G39A|MYB_ENST00000525369.1_Missense_Mutation_p.G39A	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	39	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G39A(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CGTCACTTGGGGAAAACAAGG	0.398			T	NFIB	adenoid cystic carcinoma																																	uc003qfc.2				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(115-117)GGG>GCG		v-myb myeloblastosis viral oncogene homolog							108.0	99.0	102.0					6																	135507133		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135507133G>C		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.116G>C	6.37:g.135507133G>C	ENSP00000356788:p.Gly39Ala					MYB_uc003qfh.2_Missense_Mutation_p.G39A|MYB_uc003qfi.2_Missense_Mutation_p.G39A|MYB_uc010kgi.2_Missense_Mutation_p.G39A|MYB_uc003qfq.2_Missense_Mutation_p.G39A|MYB_uc010kgj.2_Missense_Mutation_p.G39A|MYB_uc003qfo.2_Missense_Mutation_p.G39A|MYB_uc003qfu.2_Missense_Mutation_p.G39A|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G39A|MYB_uc003qgd.1_5'Flank	p.G39A	NM_005375	NP_005366	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	2	315	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	39			HTH myb-type 1.		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.116G>C	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125557	0.77436	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.31769	2.75;2.25;2.25;2.26;1.48;1.97;2.75;2.74;1.93;2.28	5.14	5.14	0.70334	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	N	0.11560	0.145	0.80722	D	1	D;D;D;D;P;D;D;P;D	0.89917	1.0;0.961;0.961;0.976;0.602;0.986;0.989;0.602;0.997	D;P;P;P;B;P;P;B;P	0.85130	0.997;0.674;0.809;0.824;0.441;0.831;0.89;0.441;0.773	T	0.40213	-0.9575	10	0.51188	T	0.08	-10.2799	18.9715	0.92716	0.0:0.0:1.0:0.0	.	39;39;39;39;39;39;39;39;39	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	A	39	ENSP00000339992:G39A;ENSP00000410825:G39A;ENSP00000326328:G39A;ENSP00000356788:G39A;ENSP00000433227:G39A;ENSP00000435938:G39A;ENSP00000434723:G39A;ENSP00000432851:G39A;ENSP00000435055:G39A;ENSP00000436605:G39A	ENSP00000237302:G39A	G	+	2	0	MYB	135548826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.561000	0.86390	0.563000	0.77884	GGG		PASS	0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			6	286	6	286	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597502	136597502	+	Silent	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:136597502T>C	ENST00000531224.1	-	5	1413	c.1161A>G	c.(1159-1161)aaA>aaG	p.K387K	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.K387K|BCLAF1_ENST00000353331.4_Silent_p.K385K|BCLAF1_ENST00000392348.2_Silent_p.K385K|BCLAF1_ENST00000527759.1_Silent_p.K385K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	387					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K387K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCCAGACTCTTTATCACTGA	0.438																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1159-1161)AAA>AAG		BCL2-associated transcription factor 1 isoform							279.0	295.0	289.0					6																	136597502		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597502T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1161A>G	6.37:g.136597502T>C						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.K385K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K385K	p.K387K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1414	-	Colorectal(23;0.24)		387					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1161A>G	CCDS5177.1																																																																																				PASS	0.438	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		102	815	102	815	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152673301	152673301	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:152673301C>A	ENST00000367255.5	-	70	12042	c.11441G>T	c.(11440-11442)gGt>gTt	p.G3814V	SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3814V|SYNE1_ENST00000448038.1_Missense_Mutation_p.G3799V|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3799V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3814					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G3814V(2)|p.G3799V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAAATGAAGACCTTTTTCCAG	0.438										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(11440-11442)GGT>GTT		spectrin repeat containing, nuclear envelope 1							236.0	220.0	225.0					6																	152673301		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152673301C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11441G>T	6.37:g.152673301C>A	ENSP00000356224:p.Gly3814Val	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G3799V|SYNE1_uc003qou.3_Missense_Mutation_p.G3814V|SYNE1_uc010kja.1_Missense_Mutation_p.G519V	p.G3814V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	70	12043	-		Ovarian(120;0.0955)	3814			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.11441G>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.652650|3.652650	0.67472|0.67472	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000341594|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	.|0.099514	.|0.44483	.|D	.|0.000442	.|T	.|0.13243	.|0.0321	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27140	.|0.105;0.105;0.105;0.169	.|B;B;B;B	.|0.27380	.|0.036;0.036;0.036;0.079	.|T	.|0.04930	.|-1.0917	.|10	.|0.12766	.|T	.|0.61	.|.	16.0072|16.0072	0.80372|0.80372	0.0:0.8664:0.1336:0.0|0.0:0.8664:0.1336:0.0	.|.	.|3814;3814;3814;3799	.|B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.	.|V	-1|3814;3799;3814;3799	.|ENSP00000356224:G3814V;ENSP00000396024:G3799V;ENSP00000265368:G3814V;ENSP00000390975:G3799V	.|ENSP00000265368:G3814V	.|G	-|-	.|2	.|0	SYNE1|SYNE1	152714994|152714994	0.999000|0.999000	0.42202|0.42202	0.994000|0.994000	0.49952|0.49952	0.918000|0.918000	0.54935|0.54935	2.329000|2.329000	0.43876|0.43876	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	.|GGT		PASS	0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		234	353	234	353	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152762406	152762406	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:152762406C>A	ENST00000367255.5	-	32	4610		c.e32-1		SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.?(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTAATGTGACCTAAATTTGAA	0.318										HNSCC(10;0.0054)																												uc010kiw.2																			3	Unknown(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.e32-1		spectrin repeat containing, nuclear envelope 1							47.0	40.0	42.0					6																	152762406		2202	4295	6497	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152762406C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4009-1G>T	6.37:g.152762406C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.V1344_splice|SYNE1_uc003qou.3_Splice_Site_p.V1337_splice|SYNE1_uc010kjb.1_Splice_Site_p.V1320_splice|SYNE1_uc003qow.2_Splice_Site_p.V632_splice|SYNE1_uc003qox.1_Splice_Site_p.V853_splice	p.V1337_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	32	4611	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37	c.4009_splice	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528133	0.85706	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6762	0.95934	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152804099	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.229000	0.72294	2.729000	0.93468	0.591000	0.81541	.		PASS	0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	10	42	10	42	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155761239	155761239	+	Silent	SNP	T	T	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:155761239T>G	ENST00000159060.2	-	6	621	c.519A>C	c.(517-519)gcA>gcC	p.A173A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	173	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.A173A(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGGTGACGCCTGCTATTGTCC	0.403																																						uc003qqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(517-519)GCA>GCC		NADPH oxidase 3							112.0	108.0	109.0					6																	155761239		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155761239T>G	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.519A>C	6.37:g.155761239T>G							p.A173A	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	6	622	-		Breast(66;0.0183)	173			Ferric oxidoreductase.|Helical; (Potential).		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.519A>C	CCDS5250.1																																																																																				PASS	0.403	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			73	117	73	117	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157521979	157521979	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr6:157521979G>A	ENST00000350026.5	+	17	4213	c.4212G>A	c.(4210-4212)agG>agA	p.R1404R	ARID1B_ENST00000346085.5_Silent_p.R1417R|ARID1B_ENST00000275248.4_Silent_p.R1399R|ARID1B_ENST00000367148.1_Silent_p.R1457R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1404					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1417R(1)|p.R1399R(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGGACCGCAGGCCCATCCAGG	0.637																																						uc003qqn.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(4195-4197)AGG>AGA		AT rich interactive domain 1B (SWI1-like)							39.0	45.0	43.0					6																	157521979		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521979G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4212G>A	6.37:g.157521979G>A						ARID1B_uc003qqo.2_Silent_p.R1359R|ARID1B_uc003qqp.2_Silent_p.R1346R	p.R1399R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4349	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1404					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4197G>A	CCDS5251.2																																																																																				PASS	0.637	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		38	96	38	96	---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38785213	38785213	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:38785213C>A	ENST00000310301.4	-	23	1981	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	VPS41_ENST00000395969.2_Splice_Site_p.A618S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	643					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.A643S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ATCTCAAGAGCCTTCAATTAA	0.333																																						uc003tgy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1927-1929)GCT>TCT		vacuolar protein sorting 41 isoform 1							104.0	107.0	106.0					7																	38785213		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38785213C>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1927-1G>T	7.37:g.38785213C>A						VPS41_uc003tgz.2_Missense_Mutation_p.A618S|VPS41_uc010kxn.2_Missense_Mutation_p.A554S|VPS41_uc003tgx.2_RNA	p.A643S	NM_014396	NP_055211	P49754	VPS41_HUMAN			23	1953	-			643			Clathrin.		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1927G>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032647	0.75504	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.21031	2.03;2.03	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.047272	0.85682	D	0.000000	T	0.36771	0.0979	M	0.87038	2.855	0.80722	D	1	B;B;B	0.15473	0.013;0.013;0.013	B;B;B	0.19666	0.026;0.026;0.026	T	0.35176	-0.9799	10	0.66056	D	0.02	-16.2978	19.444	0.94840	0.0:1.0:0.0:0.0	.	643;618;643	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	S	643;618	ENSP00000309457:A643S;ENSP00000379297:A618S	ENSP00000309457:A643S	A	-	1	0	VPS41	38751738	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.574000	0.82434	2.664000	0.90586	0.557000	0.71058	GCT		PASS	0.333	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Missense_Mutation	66	97	66	97	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44571705	44571705	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:44571705G>A	ENST00000289547.4	-	9	2576	c.2521C>T	c.(2521-2523)Ctg>Ttg	p.L841L	NPC1L1_ENST00000546276.1_Silent_p.L841L|NPC1L1_ENST00000381160.3_Silent_p.L841L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	841					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L841L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATCCAGTGCAGCAGGAAGGGG	0.642																																						uc003tlb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2521-2523)CTG>TTG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						67.0	61.0	63.0					7																	44571705		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571705G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2521C>T	7.37:g.44571705G>A						NPC1L1_uc003tlc.2_Silent_p.L841L|NPC1L1_uc011kbw.1_Silent_p.L841L	p.L841L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			9	2577	-			841			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2521C>T	CCDS5491.1																																																																																				PASS	0.642	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		59	52	59	52	---	---	---	---
UPP1	7378	broad.mit.edu	37	7	48147045	48147045	+	Missense_Mutation	SNP	G	G	T	rs368798686		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:48147045G>T	ENST00000331803.4	+	9	1357	c.734G>T	c.(733-735)cGc>cTc	p.R245L	UPP1_ENST00000395564.4_Missense_Mutation_p.R245L|UPP1_ENST00000341253.4_Missense_Mutation_p.R245L|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.R108L			Q16831	UPP1_HUMAN	uridine phosphorylase 1	245					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.R245L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GCCGGCGTCCGCAATATCGAG	0.632																																						uc003toj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CGC>CTC		uridine phosphorylase 1							76.0	69.0	71.0					7																	48147045		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.chr7:48147045G>T	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.734G>T	7.37:g.48147045G>T	ENSP00000330032:p.Arg245Leu					UPP1_uc003tok.2_Missense_Mutation_p.R245L|UPP1_uc003tol.2_Missense_Mutation_p.R245L|UPP1_uc011kch.1_Missense_Mutation_p.R38L|UPP1_uc003ton.2_Missense_Mutation_p.R108L|UPP1_uc003too.2_Missense_Mutation_p.R108L	p.R245L	NM_181597	NP_853628	Q16831	UPP1_HUMAN			9	1263	+			245					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.734G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228519	0.58777	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.65	5.65	0.86999	Nucleoside phosphorylase domain (1);	0.047631	0.85682	D	0.000000	D	0.92499	0.7618	M	0.75615	2.305	0.80722	D	1	D;P	0.67145	0.996;0.951	D;P	0.67725	0.953;0.891	D	0.89842	0.4003	10	0.20519	T	0.43	-30.6397	18.7189	0.91686	0.0:0.0:1.0:0.0	.	108;245	Q86Y75;Q16831	.;UPP1_HUMAN	L	245;245;245;108	ENSP00000330032:R245L;ENSP00000342878:R245L;ENSP00000378931:R245L;ENSP00000406224:R108L	ENSP00000330032:R245L	R	+	2	0	UPP1	48113570	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	9.414000	0.97362	2.644000	0.89710	0.650000	0.86243	CGC		PASS	0.632	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		29	29	29	29	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94540121	94540121	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:94540121G>T	ENST00000433881.1	+	2	1228	c.696G>T	c.(694-696)ggG>ggT	p.G232G	PPP1R9A_ENST00000424654.1_Silent_p.G232G|PPP1R9A_ENST00000289495.5_Silent_p.G232G|PPP1R9A_ENST00000340694.4_Silent_p.G232G|PPP1R9A_ENST00000456331.2_Silent_p.G232G|PPP1R9A_ENST00000433360.1_Silent_p.G232G			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	232					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.G232G(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGTGACTGGGCATTATCCCT	0.433										HNSCC(28;0.073)																												uc003unp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(694-696)GGG>GGT		protein phosphatase 1, regulatory (inhibitor)							88.0	80.0	83.0					7																	94540121		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540121G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.696G>T	7.37:g.94540121G>T		HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Silent_p.G232G|PPP1R9A_uc011kif.1_Silent_p.G232G|PPP1R9A_uc003unq.2_Silent_p.G232G|PPP1R9A_uc011kig.1_Silent_p.G232G	p.G232G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	978	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		232					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.696G>T	CCDS34683.1																																																																																				PASS	0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		40	31	40	31	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98524818	98524818	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:98524818A>G	ENST00000359863.4	+	23	3213	c.3004A>G	c.(3004-3006)Atc>Gtc	p.I1002V	TRRAP_ENST00000446306.3_Missense_Mutation_p.I1001V|TRRAP_ENST00000355540.3_Missense_Mutation_p.I1002V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1002					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.I1002V(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCAATGTTATCATCTCACA	0.502																																						uc003upp.2																			2	Substitution - Missense(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(3004-3006)ATC>GTC		transformation/transcription domain-associated							100.0	88.0	92.0					7																	98524818		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98524818A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3004A>G	7.37:g.98524818A>G	ENSP00000352925:p.Ile1002Val					TRRAP_uc011kis.1_Missense_Mutation_p.I1002V|TRRAP_uc003upr.2_Missense_Mutation_p.I694V	p.I1002V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	3213	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1002					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3004A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	12.22	1.873191	0.33069	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02837	4.14;4.14	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.02230	0.0069	N	0.08118	0	0.80722	D	1	B;B;B	0.19445	0.036;0.005;0.027	B;B;B	0.15052	0.012;0.004;0.007	T	0.60667	-0.7218	10	0.30078	T	0.28	.	15.6118	0.76727	1.0:0.0:0.0:0.0	.	1002;716;1002	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	V	1002;1002;1000	ENSP00000352925:I1002V;ENSP00000347733:I1002V	ENSP00000347733:I1002V	I	+	1	0	TRRAP	98362754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.335000	0.96500	2.100000	0.63781	0.477000	0.44152	ATC		PASS	0.502	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	110	7	110	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508783	106508783	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:106508783G>T	ENST00000359195.3	+	2	1087	c.777G>T	c.(775-777)atG>atT	p.M259I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.M259I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.M259I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	259	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M259I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATCTCTGATGGATATTCCCG	0.562																																						uc003vdv.3																			1	Substitution - Missense(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(775-777)ATG>ATT		phosphoinositide-3-kinase, catalytic, gamma							67.0	68.0	68.0					7																	106508783		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508783G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.777G>T	7.37:g.106508783G>T	ENSP00000352121:p.Met259Ile					PIK3CG_uc003vdu.2_Missense_Mutation_p.M259I|PIK3CG_uc003vdw.2_Missense_Mutation_p.M259I	p.M259I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	862	+			259					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.777G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179653	0.21787	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68903	-0.36;-0.36;-0.36	5.59	5.59	0.84812	Phosphoinositide 3-kinase, ras-binding (2);	0.093194	0.85682	D	0.000000	T	0.57770	0.2076	L	0.40543	1.245	0.50313	D	0.999862	B	0.18610	0.029	B	0.20955	0.032	T	0.52034	-0.8629	10	0.33141	T	0.24	-36.8369	13.2078	0.59807	0.0729:0.0:0.9271:0.0	.	259	P48736	PK3CG_HUMAN	I	259	ENSP00000392258:M259I;ENSP00000419260:M259I;ENSP00000352121:M259I	ENSP00000352121:M259I	M	+	3	0	PIK3CG	106296019	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.855000	0.55957	2.783000	0.95769	0.655000	0.94253	ATG		PASS	0.562	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			100	59	100	59	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106509060	106509060	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:106509060G>A	ENST00000359195.3	+	2	1364	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V352M|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V352M	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	352					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V352M(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGTTCACCGTGTCCCTGTG	0.577																																						uc003vdv.3																			2	Substitution - Missense(2)		ovary(1)|lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1054-1056)GTG>ATG		phosphoinositide-3-kinase, catalytic, gamma							115.0	103.0	107.0					7																	106509060		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509060G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1054G>A	7.37:g.106509060G>A	ENSP00000352121:p.Val352Met					PIK3CG_uc003vdu.2_Missense_Mutation_p.V352M|PIK3CG_uc003vdw.2_Missense_Mutation_p.V352M	p.V352M	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1139	+			352					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1054G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273302	0.23221	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70516	-0.49;-0.49;-0.49	5.73	3.81	0.43845	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.230145	0.40640	N	0.001052	T	0.48857	0.1523	N	0.14661	0.345	0.35490	D	0.798871	B	0.20368	0.044	B	0.15870	0.014	T	0.53129	-0.8482	10	0.49607	T	0.09	-19.2235	5.5887	0.17289	0.1577:0.3465:0.4958:0.0	.	352	P48736	PK3CG_HUMAN	M	352	ENSP00000392258:V352M;ENSP00000419260:V352M;ENSP00000352121:V352M	ENSP00000352121:V352M	V	+	1	0	PIK3CG	106296296	0.996000	0.38824	0.897000	0.35233	0.988000	0.76386	2.915000	0.48805	1.365000	0.46057	0.655000	0.94253	GTG		PASS	0.577	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	184	5	184	---	---	---	---
ST7	7982	broad.mit.edu	37	7	116759660	116759660	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:116759660G>A	ENST00000393446.2	+	3	583	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ST7_ENST00000393443.1_Missense_Mutation_p.E44K|ST7_ENST00000393449.1_Missense_Mutation_p.E94K|ST7_ENST00000393444.3_Missense_Mutation_p.E51K|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393447.4_Missense_Mutation_p.E51K|ST7_ENST00000465133.1_Missense_Mutation_p.E51K|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000265437.5_Missense_Mutation_p.E94K|ST7_ENST00000323984.3_Missense_Mutation_p.E94K|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000432298.1_Missense_Mutation_p.E48K|ST7_ENST00000422922.1_Missense_Mutation_p.E48K|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393451.3_Missense_Mutation_p.E94K			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.E94K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCATTCATTGAACAAGTCTC	0.408																																						uc003vin.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(280-282)GAA>AAA		suppression of tumorigenicity 7 isoform b							128.0	122.0	124.0					7																	116759660		2203	4300	6503	SO:0001583	missense	7982					integral to membrane	binding	g.chr7:116759660G>A	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.280G>A	7.37:g.116759660G>A	ENSP00000377092:p.Glu94Lys					ST7_uc011knl.1_Missense_Mutation_p.E94K|ST7_uc003vio.2_Missense_Mutation_p.E94K|ST7_uc003viq.2_Missense_Mutation_p.E48K|ST7_uc011knm.1_Missense_Mutation_p.E51K|ST7_uc003vir.2_Missense_Mutation_p.E42K|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.E42K|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	p.E94K	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	3	494	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		94					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.915358	0.97099	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000417919;ENST00000446490;ENST00000421345;ENST00000432298;ENST00000422922;ENST00000449366;ENST00000393443;ENST00000465133;ENST00000477742;ENST00000393447;ENST00000393444;ENST00000420755;ENST00000490039	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58452	0.2123	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;0.999;0.99;0.997	D;D;D;D;D;D;D	0.91635	0.987;0.986;0.987;0.999;0.999;0.979;0.977	T	0.60326	-0.7285	10	0.87932	D	0	-14.4024	20.239	0.98366	0.0:0.0:1.0:0.0	.	42;51;94;44;48;94;94	C9JU30;B7Z4L1;B7Z573;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;ST7_HUMAN	K	94;94;94;94;94;44;94;42;48;48;44;44;51;42;51;51;42;42	ENSP00000377092:E94K;ENSP00000265437:E94K;ENSP00000377097:E94K;ENSP00000325673:E94K;ENSP00000377095:E94K;ENSP00000391444:E44K;ENSP00000402934:E94K;ENSP00000416858:E42K;ENSP00000411118:E48K;ENSP00000414031:E48K;ENSP00000413601:E44K;ENSP00000377089:E44K;ENSP00000420052:E51K;ENSP00000419715:E42K;ENSP00000377093:E51K;ENSP00000377090:E51K;ENSP00000388698:E42K;ENSP00000419516:E42K	ENSP00000265437:E94K	E	+	1	0	ST7	116546896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.428000	0.97476	2.884000	0.98904	0.655000	0.94253	GAA		PASS	0.408	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1	NM_021908		99	167	99	167	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126410117	126410117	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:126410117G>T	ENST00000339582.2	-	7	1967	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M	GRM8_ENST00000444921.2_Missense_Mutation_p.L387M|GRM8_ENST00000358373.3_Missense_Mutation_p.L387M|GRM8_ENST00000405249.1_Missense_Mutation_p.L387M|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	387					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.L387M(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATTCGCTCCAGCCCTGCAAAA	0.378										HNSCC(24;0.065)																												uc003vlr.2																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1159-1161)CTG>ATG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						48.0	43.0	45.0					7																	126410117		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410117G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1159C>A	7.37:g.126410117G>T	ENSP00000344173:p.Leu387Met	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L387M|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.L108M	p.L387M	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1470	-		Prostate(267;0.186)	387			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1159C>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	9.378	1.072216	0.20147	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.88	0.419	0.16438	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000004	D	0.84629	0.5514	N	0.17082	0.46	0.25277	N	0.989466	P;D;B	0.76494	0.949;0.999;0.124	P;D;B	0.68943	0.689;0.961;0.102	T	0.76686	-0.2868	10	0.51188	T	0.08	.	9.1765	0.37116	0.5514:0.0:0.4486:0.0	.	387;387;387	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	M	387	ENSP00000344173:L387M;ENSP00000409790:L387M;ENSP00000351142:L387M;ENSP00000385731:L387M	ENSP00000344173:L387M	L	-	1	2	GRM8	126197353	0.093000	0.21703	0.594000	0.28785	0.173000	0.22820	1.367000	0.34204	0.114000	0.18032	-0.140000	0.14226	CTG		PASS	0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			21	46	21	46	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132192291	132192292	+	Missense_Mutation	DNP	CC	CC	AA	rs200081174		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:132192291_132192292CC>AA	ENST00000359827.3	-	2	2123_2124	c.1161_1162GG>TT	c.(1159-1164)aaGGtg>aaTTtg	p.387_388KV>NL	PLXNA4_ENST00000321063.4_Missense_Mutation_p.387_388KV>NL|PLXNA4_ENST00000423507.2_Missense_Mutation_p.387_388KV>NL|PLXNA4_ENST00000378539.5_Missense_Mutation_p.387_388KV>NL			Q9HCM2	PLXA4_HUMAN	plexin A4	387	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K387_V388>NL(4)|p.K387N(4)|p.V388L(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGTCCTTCACCTTGAGCCAGG	0.604																																						uc003vra.3																			12	Substitution - Missense(8)|Complex - compound substitution(4)		lung(12)	ovary(1)	1						c.(1162-1164)GTG>TTG|c.(1159-1161)AAG>AAT		plexin A4 isoform 1																																				SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192291C>A|g.chr7:132192292C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1161_1162delinsAA	7.37:g.132192291_132192292delinsAA	ENSP00000352882:p.K387_V388delinsNL					PLXNA4_uc003vrc.2_Missense_Mutation_p.V388L|PLXNA4_uc003vrb.2_Missense_Mutation_p.V388L|PLXNA4_uc003vrc.2_Missense_Mutation_p.K387N|PLXNA4_uc003vrb.2_Missense_Mutation_p.K387N	p.V388L|p.K387N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	1391|1390	-			388|387			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1162G>T|c.1161G>T	CCDS43646.1																																																																																				PASS	0.604	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		29|30	81|79	29	79	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175315	143175315	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:143175315C>A	ENST00000408916.1	+	1	350	c.350C>A	c.(349-351)tCc>tAc	p.S117Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	117					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S117Y(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ATCACACACTCCACCTTCCTG	0.522																																						uc003wdc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(349-351)TCC>TAC		taste receptor, type 2, member 41							76.0	75.0	76.0					7																	143175315		2000	4171	6171	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175315C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.350C>A	7.37:g.143175315C>A	ENSP00000386201:p.Ser117Tyr					uc003wda.2_Intron	p.S117Y	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	350	+	Melanoma(164;0.15)		117			Cytoplasmic (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.350C>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574137	0.28092	.	.	ENSG00000221855	ENST00000408916	T	0.26810	1.71	5.7	3.84	0.44239	.	0.200286	0.34046	U	0.004307	T	0.21550	0.0519	N	0.20483	0.58	0.09310	N	0.999999	P	0.42556	0.783	P	0.46419	0.516	T	0.05435	-1.0885	10	0.72032	D	0.01	.	9.3883	0.38356	0.1539:0.5482:0.2978:0.0	.	117	P59536	T2R41_HUMAN	Y	117	ENSP00000386201:S117Y	ENSP00000386201:S117Y	S	+	2	0	TAS2R41	142885437	0.000000	0.05858	0.590000	0.28732	0.728000	0.41692	0.427000	0.21379	0.710000	0.31997	-0.175000	0.13238	TCC		PASS	0.522	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			53	73	53	73	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144097350	144097350	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:144097350A>G	ENST00000467773.1	-	5	899	c.900T>C	c.(898-900)gaT>gaC	p.D300D	NOBOX_ENST00000223140.5_Silent_p.D215D|NOBOX_ENST00000483238.1_Silent_p.D300D	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	300					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D300D(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCGGCGTTTATCACTGTCAG	0.562																																						uc011kue.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(898-900)GAT>GAC		NOBOX oogenesis homeobox							92.0	84.0	86.0					7																	144097350		1896	4131	6027	SO:0001819	synonymous_variant	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097350A>G			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.900T>C	7.37:g.144097350A>G							p.D300D	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			5	900	-	Melanoma(164;0.14)		300			Homeobox.		A6NCD3|A8MZN5	Silent	SNP	ENST00000467773.1	37	c.900T>C																																																																																					PASS	0.562	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		46	77	46	77	---	---	---	---
GIMAP5	55340	broad.mit.edu	37	7	150439822	150439822	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr7:150439822C>A	ENST00000358647.3	+	3	962	c.595C>A	c.(595-597)Cag>Aag	p.Q199K	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	199	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.Q199K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGAGGCAGCAGCAGGCAGA	0.587																																						uc003whr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(595-597)CAG>AAG		GTPase, IMAP family member 5							62.0	61.0	61.0					7																	150439822		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439822C>A	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.595C>A	7.37:g.150439822C>A	ENSP00000351473:p.Gln199Lys					GIMAP5_uc010lpu.2_Missense_Mutation_p.Q57K	p.Q199K	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	947	+			199			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.595C>A	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546929	0.27652	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.20738	2.05	4.15	3.24	0.37175	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	H	0.96604	3.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53294	-0.8459	10	0.87932	D	0	.	7.9216	0.29850	0.0:0.8824:0.0:0.1176	.	199	Q96F15	GIMA5_HUMAN	K	199;235	ENSP00000351473:Q199K	ENSP00000351473:Q199K	Q	+	1	0	GIMAP5	150070755	0.993000	0.37304	0.961000	0.40146	0.017000	0.09413	3.752000	0.55172	2.143000	0.66587	0.655000	0.94253	CAG		PASS	0.587	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		50	79	50	79	---	---	---	---
MSR1	4481	broad.mit.edu	37	8	15967718	15967718	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:15967718G>T	ENST00000262101.5	-	10	1353	c.1232C>A	c.(1231-1233)cCa>cAa	p.P411Q	MSR1_ENST00000350896.3_Missense_Mutation_p.P348Q|MSR1_ENST00000445506.2_Missense_Mutation_p.P429Q|MSR1_ENST00000355282.2_Missense_Mutation_p.P348Q			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	411	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.P411Q(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGCCATATTGGACCAGTACC	0.373																																						uc003wwz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1231-1233)CCA>CAA		macrophage scavenger receptor 1 isoform type 1							91.0	94.0	93.0					8																	15967718		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967718G>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1232C>A	8.37:g.15967718G>T	ENSP00000262101:p.Pro411Gln					MSR1_uc010lsu.2_Missense_Mutation_p.P429Q|MSR1_uc003wxa.2_Missense_Mutation_p.P348Q	p.P411Q	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	10	1430	-			411			SRCR.|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1232C>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857843	0.51376	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.08	4.19	0.49359	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.48286	D	0.000194	T	0.51449	0.1675	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.995;0.998	T	0.39231	-0.9624	10	0.23891	T	0.37	.	10.1036	0.42519	0.0983:0.0:0.9017:0.0	.	429;348;411	B4DDJ5;P21757-3;P21757	.;.;MSRE_HUMAN	Q	348;411;429;348	ENSP00000262100:P348Q;ENSP00000262101:P411Q;ENSP00000405453:P429Q;ENSP00000347430:P348Q	ENSP00000262101:P411Q	P	-	2	0	MSR1	16012089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.821000	0.39041	2.515000	0.84797	0.650000	0.86243	CCA		PASS	0.373	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			41	95	41	95	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35647908	35647908	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:35647908C>A	ENST00000404895.2	+	17	3017	c.2689C>A	c.(2689-2691)Cca>Aca	p.P897T	UNC5D_ENST00000420357.1_Missense_Mutation_p.P830T|UNC5D_ENST00000416672.1_Missense_Mutation_p.P902T|AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000449677.1_Missense_Mutation_p.P473T|UNC5D_ENST00000453357.2_Missense_Mutation_p.P892T|UNC5D_ENST00000287272.2_Missense_Mutation_p.P828T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	897	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.P892T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAAAGTAGCCCATCTGCTGT	0.428																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2689-2691)CCA>ACA		unc-5 homolog D precursor							135.0	115.0	122.0					8																	35647908		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35647908C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2689C>A	8.37:g.35647908C>A	ENSP00000385143:p.Pro897Thr					UNC5D_uc003xjs.1_Missense_Mutation_p.P892T|UNC5D_uc003xju.1_Missense_Mutation_p.P473T	p.P897T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	17	3017	+			897			Death.|Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2689C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726858	0.89390	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.72	5.72	0.89469	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78295	-0.2259	10	0.87932	D	0	-14.1383	19.8731	0.96858	0.0:1.0:0.0:0.0	.	473;892;897	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	T	897;830;828;902;892;473	ENSP00000385143:P897T;ENSP00000392739:P830T;ENSP00000287272:P828T;ENSP00000412652:P902T;ENSP00000394303:P892T;ENSP00000397211:P473T	ENSP00000287272:P828T	P	+	1	0	UNC5D	35767450	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.398000	0.79919	2.705000	0.92388	0.557000	0.71058	CCA		PASS	0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			35	403	35	403	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48746885	48746885	+	Missense_Mutation	SNP	G	G	A	rs369642176		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:48746885G>A	ENST00000314191.2	-	60	8077	c.8021C>T	c.(8020-8022)tCt>tTt	p.S2674F	PRKDC_ENST00000338368.3_Missense_Mutation_p.S2674F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2675	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S2675F(1)|p.S2674F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAAGGAGTCAGATGAGGGACT	0.537								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8023-8025)TCT>TTT	NHEJ	protein kinase, DNA-activated, catalytic		G	PHE/SER,PHE/SER	0,4340		0,0,2170	140.0	154.0	149.0		8023,8023	4.3	0.0	8		149	1,8561		0,1,4280	no	missense,missense	PRKDC	NM_001081640.1,NM_006904.6	155,155	0,1,6450	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging	2675/4098,2675/4129	48746885	1,12901	2170	4281	6451	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746885G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8021C>T	8.37:g.48746885G>A	ENSP00000313420:p.Ser2674Phe					PRKDC_uc003xqj.2_Missense_Mutation_p.S2675F|PRKDC_uc011ldh.1_Intron	p.S2675F	NM_006904	NP_008835	P78527	PRKDC_HUMAN			60	8081	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2675			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8024C>T		.	.	.	.	.	.	.	.	.	.	G	12.92	2.081905	0.36758	0.0	1.17E-4	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03035	4.14;4.07	5.36	4.29	0.51040	.	0.000000	0.64402	D	0.000001	T	0.07188	0.0182	M	0.72118	2.19	0.21553	N	0.999643	B;P	0.44946	0.02;0.846	B;B	0.40009	0.01;0.316	T	0.15838	-1.0423	10	0.59425	D	0.04	.	14.9307	0.70914	0.0807:0.0:0.9193:0.0	.	2674;2675	E7EUY0;P78527	.;PRKDC_HUMAN	F	2674	ENSP00000313420:S2674F;ENSP00000345182:S2674F	ENSP00000313420:S2674F	S	-	2	0	PRKDC	48909438	0.992000	0.36948	0.022000	0.16811	0.067000	0.16453	3.452000	0.52971	2.509000	0.84616	0.563000	0.77884	TCT		PASS	0.537	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		126	299	126	299	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65517287	65517287	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:65517287G>T	ENST00000310193.3	-	5	1358	c.1185C>A	c.(1183-1185)atC>atA	p.I395I	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	395					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.I395I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CTGGAGGAAAGATGGCTACCA	0.463																																						uc003xvj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1183-1185)ATC>ATA		cytochrome P450, family 7, subfamily B,							155.0	152.0	153.0					8																	65517287		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517287G>T	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1185C>A	8.37:g.65517287G>T							p.I395I	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1389	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	395					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.1185C>A	CCDS6180.1																																																																																				PASS	0.463	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			49	141	49	141	---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65528652	65528652	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:65528652G>A	ENST00000310193.3	-	3	619	c.446C>T	c.(445-447)tCt>tTt	p.S149F	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	149					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.S149F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TATGTCCAAAGATTTGCCTTG	0.368																																						uc003xvj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(445-447)TCT>TTT		cytochrome P450, family 7, subfamily B,							70.0	67.0	68.0					8																	65528652		2203	4300	6503	SO:0001583	missense	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65528652G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.446C>T	8.37:g.65528652G>A	ENSP00000310721:p.Ser149Phe						p.S149F	NM_004820	NP_004811	O75881	CP7B1_HUMAN			3	650	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	149					B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	c.446C>T	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373265	0.42105	.	.	ENSG00000172817	ENST00000310193	T	0.70164	-0.46	5.17	3.31	0.37934	.	0.679148	0.15698	N	0.249058	T	0.73071	0.3540	L	0.59436	1.845	0.09310	N	1	P	0.48407	0.91	P	0.57425	0.82	T	0.61931	-0.6961	9	.	.	.	-16.393	10.496	0.44777	0.0733:0.0:0.785:0.1417	.	149	O75881	CP7B1_HUMAN	F	149	ENSP00000310721:S149F	.	S	-	2	0	CYP7B1	65691206	0.860000	0.29831	0.978000	0.43139	0.990000	0.78478	1.610000	0.36869	1.269000	0.44280	0.655000	0.94253	TCT		PASS	0.368	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			77	127	77	127	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617884	77617884	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:77617884G>A	ENST00000521891.2	+	2	2009	c.1561G>A	c.(1561-1563)Ggt>Agt	p.G521S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G521S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G521S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G521S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G521S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATTGAAAAGGGTACCTCGTC	0.418										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1561-1563)GGT>AGT		zinc finger homeodomain 4							39.0	39.0	39.0					8																	77617884		1941	4148	6089	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617884G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1561G>A	8.37:g.77617884G>A	ENSP00000430497:p.Gly521Ser	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G521S|ZFHX4_uc003yau.1_Missense_Mutation_p.G521S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G521S	p.G521S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1948	+			521					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1561G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766532	0.49574	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.69;0.65;0.66	5.65	5.65	0.86999	.	0.000000	0.45361	U	0.000367	T	0.44074	0.1276	L	0.45581	1.43	0.80722	D	1	P;B;P;P	0.41450	0.635;0.319;0.75;0.623	B;B;B;B	0.36885	0.091;0.073;0.187;0.235	T	0.31447	-0.9943	10	0.34782	T	0.22	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	521;521;521;521	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	521	ENSP00000430497:G521S;ENSP00000399605:G521S;ENSP00000050961:G521S;ENSP00000430848:G521S	ENSP00000050961:G521S	G	+	1	0	ZFHX4	77780439	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.324000	0.79115	2.941000	0.99782	0.655000	0.94253	GGT		PASS	0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		48	54	48	54	---	---	---	---
PSKH2	85481	broad.mit.edu	37	8	87081732	87081732	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:87081732G>T	ENST00000276616.2	-	1	194	c.120C>A	c.(118-120)gcC>gcA	p.A40A	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	40							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A40A(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCGCCGCCTGGGCCGCCGCCT	0.706																																						uc011lfy.1																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|lung(2)|ovary(1)	5						c.(118-120)GCC>GCA		protein serine kinase H2							8.0	11.0	10.0					8																	87081732		2068	4079	6147	SO:0001819	synonymous_variant	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081732G>T	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.120C>A	8.37:g.87081732G>T							p.A40A	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	120	-			40					A0AV22	Silent	SNP	ENST00000276616.2	37	c.120C>A	CCDS6240.1																																																																																				PASS	0.706	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		4	5	4	5	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99148776	99148776	+	Missense_Mutation	SNP	G	G	T	rs150874165		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:99148776G>T	ENST00000401707.2	+	8	1159	c.1078G>T	c.(1078-1080)Gct>Tct	p.A360S	POP1_ENST00000349693.3_Missense_Mutation_p.A360S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	360					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.A360S(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGTCTGCATCGCTGACCCACT	0.383																																						uc003yij.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1078-1080)GCT>TCT		processing of precursor 1							102.0	111.0	108.0					8																	99148776		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99148776G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1078G>T	8.37:g.99148776G>T	ENSP00000385787:p.Ala360Ser					POP1_uc011lgv.1_Missense_Mutation_p.A360S|POP1_uc003yik.2_Missense_Mutation_p.A360S	p.A360S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		8	1178	+	Breast(36;1.78e-06)		360					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.1078G>T	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	4.143	0.024924	0.08054	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.35421	1.31;1.31	5.63	1.8	0.24995	.	0.291643	0.33199	N	0.005164	T	0.09818	0.0241	N	0.02011	-0.69	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.28522	-1.0041	10	0.07482	T	0.82	-3.2453	3.4399	0.07460	0.1426:0.5772:0.1334:0.1469	.	360	Q99575	POP1_HUMAN	S	360	ENSP00000385787:A360S;ENSP00000339529:A360S	ENSP00000339529:A360S	A	+	1	0	POP1	99217952	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.514000	0.22786	0.335000	0.23614	-2.104000	0.00359	GCT		PASS	0.383	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		136	175	136	175	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476998	110476998	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:110476998C>A	ENST00000378402.5	+	49	8041	c.7937C>A	c.(7936-7938)gCa>gAa	p.A2646E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2646					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A2648E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGCACCTGCAATATTTAAC	0.408										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7936-7938)GCA>GAA		fibrocystin L precursor							126.0	123.0	124.0					8																	110476998		1880	4113	5993	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476998C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7937C>A	8.37:g.110476998C>A	ENSP00000367655:p.Ala2646Glu	HNSCC(38;0.096)					p.A2646E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	8041	+			2646			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7937C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930405	0.52866	.	.	ENSG00000205038	ENST00000378402	T	0.81330	-1.48	5.67	5.67	0.87782	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.93328	3.405	0.49389	D	0.99978	D	0.63880	0.993	P	0.62089	0.898	D	0.93255	0.6638	10	0.66056	D	0.02	.	17.2574	0.87061	0.0:1.0:0.0:0.0	.	2646	Q86WI1	PKHL1_HUMAN	E	2646	ENSP00000367655:A2646E	ENSP00000367655:A2646E	A	+	2	0	PKHD1L1	110546174	1.000000	0.71417	0.959000	0.39883	0.014000	0.08584	6.437000	0.73421	2.667000	0.90743	0.655000	0.94253	GCA		PASS	0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		141	418	141	418	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116617106	116617106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:116617106C>A	ENST00000220888.5	-	3	1210	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.E351*|TRPS1_ENST00000519076.1_Nonsense_Mutation_p.E305*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.E364*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.E355*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	351					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.E351*(1)|p.E364*(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)			AAATGTTGTTCTAATTCGGTG	0.423									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1051-1053)GAA>TAA		zinc finger transcription factor TRPS1							118.0	113.0	115.0					8																	116617106		1866	4091	5957	SO:0001587	stop_gained	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.chr8:116617106C>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.1051G>T	8.37:g.116617106C>A	ENSP00000220888:p.Glu351*					TRPS1_uc011lhy.1_Nonsense_Mutation_p.E355*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E364*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E351*	p.E351*	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	1510	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		351			C2H2-type 2; atypical.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	ENST00000220888.5	37	c.1051G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.911646	0.97928	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	.	.	.	5.69	5.69	0.88448	.	0.107603	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	364;351;305;355;351	.	ENSP00000220888:E351X	E	-	1	0	TRPS1	116686281	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.423	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		147	193	147	193	---	---	---	---
AARD	441376	broad.mit.edu	37	8	117950629	117950629	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:117950629C>T	ENST00000378279.3	+	1	192	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	49					lung development (GO:0030324)			p.A49A(1)									AGGAGGAGGCCCTCGCCGCCA	0.711																																						uc003yof.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GCC>GCT		alanine and arginine-rich domain-containing							16.0	17.0	17.0					8																	117950629		2195	4295	6490	SO:0001819	synonymous_variant	441376							g.chr8:117950629C>T	AB181519, BC140924	CCDS34935.1	8q24.11	2012-04-19	2012-04-19	2012-04-19	ENSG00000205002	ENSG00000205002			33842	protein-coding gene	gene with protein product	"""Alanine and arginine-rich domain-containing protein"""		"""chromosome 8 open reading frame 85"""	C8orf85			Standard	NM_001025357		Approved	LOC441376	uc003yof.3	Q4LEZ3	OTTHUMG00000164961	ENST00000378279.3:c.147C>T	8.37:g.117950629C>T							p.A49A	NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN			1	166	+			49					A5PKU8	Silent	SNP	ENST00000378279.3	37	c.147C>T	CCDS34935.1																																																																																				PASS	0.711	AARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381195.1	NM_001025357		11	13	11	13	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124349885	124349885	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:124349885T>A	ENST00000287394.5	-	21	3138	c.3031A>T	c.(3031-3033)Aag>Tag	p.K1011*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.K329*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1011	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1011*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAACAGGCTTAGTAAACACT	0.358																																						uc003yqh.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(3031-3033)AAG>TAG		ATPase family, AAA domain containing 2							141.0	129.0	133.0					8																	124349885		2203	4300	6503	SO:0001587	stop_gained	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124349885T>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3031A>T	8.37:g.124349885T>A	ENSP00000287394:p.Lys1011*					ATAD2_uc011lii.1_Nonsense_Mutation_p.K802*|ATAD2_uc003yqi.3_RNA	p.K1011*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	3139	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1011			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	ENST00000287394.5	37	c.3031A>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	40	8.272985	0.98737	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	.	.	.	5.58	5.58	0.84498	.	0.133462	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4664	16.0507	0.80760	0.0:0.0:0.0:1.0	.	.	.	.	X	1011;329	.	ENSP00000287394:K1011X	K	-	1	0	ATAD2	124419066	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.930000	0.87610	2.243000	0.73865	0.528000	0.53228	AAG		PASS	0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		45	160	45	160	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27950441	27950441	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:27950441A>G	ENST00000379992.2	-	6	678	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L	LINGO2_ENST00000308675.3_Missense_Mutation_p.F77L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	77						integral component of membrane (GO:0016021)		p.F77L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TATGATATGAATTCTTCAGGG	0.448																																						uc003zqu.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(229-231)TTC>CTC		leucine rich repeat and Ig domain containing 2							237.0	240.0	239.0					9																	27950441		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950441A>G	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.229T>C	9.37:g.27950441A>G	ENSP00000369328:p.Phe77Leu					LINGO2_uc010mjf.1_Missense_Mutation_p.F77L|LINGO2_uc003zqv.1_Missense_Mutation_p.F77L	p.F77L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	423	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	77			LRR 1.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.229T>C	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128764	0.56721	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80123	-1.34;-1.34	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	L	0.46157	1.445	0.80722	D	1	P	0.39250	0.665	B	0.40444	0.329	T	0.76107	-0.3080	9	.	.	.	.	16.3305	0.83010	1.0:0.0:0.0:0.0	.	77	Q7L985	LIGO2_HUMAN	L	77	ENSP00000369328:F77L;ENSP00000310126:F77L	.	F	-	1	0	LINGO2	27940441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.243000	0.95416	2.317000	0.78254	0.459000	0.35465	TTC		PASS	0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		136	256	136	256	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34514727	34514727	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:34514727C>A	ENST00000242317.4	+	18	1979	c.1808C>A	c.(1807-1809)aCa>aAa	p.T603K		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	603					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.T603K(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCAGTCACCACAGATGGGAAG	0.562									Kartagener syndrome																													uc003zum.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)ACA>AAA		dynein, axonemal, intermediate chain 1							130.0	118.0	122.0					9																	34514727		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514727C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1808C>A	9.37:g.34514727C>A	ENSP00000242317:p.Thr603Lys						p.T603K	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	18	2001	+	all_epithelial(49;0.244)		603			WD 4.		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1808C>A	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791967|2.791967	0.50102|0.50102	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000442556|ENST00000379040;ENST00000242317	.|T	.|0.70164	.|-0.46	5.14|5.14	5.14|5.14	0.70334|0.70334	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.244457	.|0.41605	.|D	.|0.000859	T|T	0.57315|0.57315	0.2045|0.2045	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B	.|0.18968	.|0.032	.|B	.|0.22753	.|0.041	T|T	0.55952|0.55952	-0.8059|-0.8059	5|10	.|0.54805	.|T	.|0.06	.|.	13.9765|13.9765	0.64277|0.64277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|603	.|Q9UI46	.|DNAI1_HUMAN	K|K	107|159;603	.|ENSP00000242317:T603K	.|ENSP00000242317:T603K	Q|T	+|+	1|2	0|0	DNAI1|DNAI1	34504727|34504727	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	3.254000|3.254000	0.51477|0.51477	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	CAG|ACA		PASS	0.562	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			7	121	7	121	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90502329	90502329	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:90502329T>C	ENST00000325643.5	+	4	2993	c.2927T>C	c.(2926-2928)gTc>gCc	p.V976A		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	976					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V976A(1)									AGCAGGACTGTCCTGGAATCC	0.587																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2926-2928)GTC>GCC		chromosome 9 open reading frame 79							40.0	40.0	40.0					9																	90502329		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502329T>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2927T>C	9.37:g.90502329T>C	ENSP00000322640:p.Val976Ala						p.V976A	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2962	+			976					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2927T>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	t	1.147	-0.647853	0.03506	.	.	ENSG00000177992	ENST00000325643	T	0.04156	3.69	2.62	-4.1	0.03940	.	.	.	.	.	T	0.03305	0.0096	L	0.47716	1.5	0.09310	N	1	P	0.41393	0.748	B	0.36464	0.225	T	0.26916	-1.0089	9	0.33940	T	0.23	.	0.3285	0.00315	0.3808:0.1345:0.1933:0.2913	.	976	Q6ZUB1	CI079_HUMAN	A	976	ENSP00000322640:V976A	ENSP00000322640:V976A	V	+	2	0	C9orf79	89692149	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.503000	0.06383	-0.884000	0.03976	0.455000	0.32223	GTC		PASS	0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		13	90	13	90	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486343	94486343	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:94486343C>T	ENST00000375708.3	-	9	2631	c.2433G>A	c.(2431-2433)atG>atA	p.M811I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	811	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.M811I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGGGGGCACCATGGGTCTGA	0.657																																						uc004arj.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2431-2433)ATG>ATA		receptor tyrosine kinase-like orphan receptor 2							39.0	47.0	44.0					9																	94486343		2202	4300	6502	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486343C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2433G>A	9.37:g.94486343C>T	ENSP00000364860:p.Met811Ile					ROR2_uc004ari.1_Intron	p.M811I	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2632	-			811			Cytoplasmic (Potential).|Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2433G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179328	0.21787	.	.	ENSG00000169071	ENST00000375708	T	0.75938	-0.98	4.52	4.52	0.55395	.	0.268985	0.25720	N	0.028754	T	0.61974	0.2390	N	0.24115	0.695	0.54753	D	0.999983	B	0.17038	0.02	B	0.11329	0.006	T	0.56872	-0.7907	10	0.20046	T	0.44	.	17.4667	0.87634	0.0:1.0:0.0:0.0	.	811	Q01974	ROR2_HUMAN	I	811	ENSP00000364860:M811I	ENSP00000364860:M811I	M	-	3	0	ROR2	93526164	1.000000	0.71417	0.998000	0.56505	0.496000	0.33645	3.439000	0.52878	2.345000	0.79718	0.462000	0.41574	ATG		PASS	0.657	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			33	56	33	56	---	---	---	---
CCDC180	100499483	broad.mit.edu	37	9	100124029	100124029	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:100124029G>A	ENST00000357054.1	+	38	4485	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1213K|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1213K|MIR1302-8_ENST00000408342.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1184						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1184K(1)|p.E1213K(1)									GAAGGACCAGGAGGAAGACAG	0.602																																						uc011lut.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(4054-4056)GAG>AAG		hypothetical protein LOC57653							79.0	63.0	69.0					9																	100124029		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100124029G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3550G>A	9.37:g.100124029G>A	ENSP00000349562:p.Glu1184Lys					KIAA1529_uc004axe.1_Missense_Mutation_p.E1184K|KIAA1529_uc004axg.1_Missense_Mutation_p.E1213K|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E369K	p.E1352K	NM_020893	NP_065944					39	4827	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4054G>A		.	.	.	.	.	.	.	.	.	.	G	14.10	2.433985	0.43224	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08807	3.07;3.05;3.05	4.73	3.82	0.43975	.	0.559030	0.17298	N	0.179371	T	0.13457	0.0326	M	0.67953	2.075	0.22330	N	0.999196	P;P	0.52692	0.828;0.955	B;P	0.50270	0.422;0.636	T	0.04481	-1.0948	10	0.06494	T	0.89	-6.5804	11.0079	0.47646	0.0:0.1884:0.8116:0.0	.	1352;1184	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	K	1184;1213;1213	ENSP00000349562:E1184K;ENSP00000364348:E1213K;ENSP00000434727:E1213K	ENSP00000349562:E1184K	E	+	1	0	C9orf174	99163850	0.776000	0.28616	0.007000	0.13788	0.009000	0.06853	4.082000	0.57635	1.336000	0.45506	0.655000	0.94253	GAG		PASS	0.602	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		26	35	26	35	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133948095	133948095	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:133948095T>A	ENST00000361069.4	+	19	3423	c.3290T>A	c.(3289-3291)cTg>cAg	p.L1097Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1097	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.L1097Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGCAGAGGCTGAACAAGGGT	0.652																																						uc004caa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3289-3291)CTG>CAG		laminin, gamma 3 precursor							26.0	28.0	27.0					9																	133948095		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948095T>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3290T>A	9.37:g.133948095T>A	ENSP00000354360:p.Leu1097Gln						p.L1097Q	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	19	3388	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1097			Domain II and I.|Potential.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.3290T>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779863	0.49891	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.33216	1.42	5.07	2.32	0.28847	.	0.670454	0.14246	N	0.331727	T	0.27384	0.0672	L	0.57536	1.79	0.09310	N	1	P	0.48016	0.904	B	0.42738	0.396	T	0.27606	-1.0069	10	0.87932	D	0	.	2.8426	0.05534	0.0:0.1761:0.2615:0.5624	.	1097	Q9Y6N6	LAMC3_HUMAN	Q	1097	ENSP00000354360:L1097Q	ENSP00000347156:L1097Q	L	+	2	0	LAMC3	132937916	0.129000	0.22400	0.016000	0.15963	0.591000	0.36615	1.139000	0.31504	0.852000	0.35287	0.454000	0.30748	CTG		PASS	0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		3	14	3	14	---	---	---	---
OLFM1	10439	broad.mit.edu	37	9	137982073	137982073	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:137982073G>T	ENST00000371793.3	+	2	434	c.183G>T	c.(181-183)caG>caT	p.Q61H	OLFM1_ENST00000277415.11_Missense_Mutation_p.Q43H|OLFM1_ENST00000252854.4_Missense_Mutation_p.Q43H|OLFM1_ENST00000392991.4_Missense_Mutation_p.Q61H|OLFM1_ENST00000371796.3_Missense_Mutation_p.Q34H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	61					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.Q43H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGAGCTGGCAGGTGTACAGCT	0.607																																						uc010nar.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(181-183)CAG>CAT		olfactomedin related ER localized protein							51.0	44.0	46.0					9																	137982073		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:137982073G>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.183G>T	9.37:g.137982073G>T	ENSP00000360858:p.Gln61His					OLFM1_uc004cfl.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfk.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfm.3_Missense_Mutation_p.Q61H	p.Q61H	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	2	499	+		Myeloproliferative disorder(178;0.0333)	61					Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.183G>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.454305	0.84209	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000392991;ENST00000371793	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.75	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.995;0.999	T	0.72327	-0.4327	10	0.87932	D	0	.	13.7955	0.63168	0.079:0.0:0.921:0.0	.	61;61;43;43	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	H	43;43;50;34;61;61	ENSP00000277415:Q43H;ENSP00000252854:Q43H;ENSP00000340318:Q50H;ENSP00000360861:Q34H;ENSP00000376717:Q61H;ENSP00000360858:Q61H	ENSP00000252854:Q43H	Q	+	3	2	OLFM1	137121894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.570000	0.60872	2.309000	0.77851	0.655000	0.94253	CAG		PASS	0.607	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		12	25	12	25	---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509312	140509312	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr9:140509312C>T	ENST00000371421.4	+	7	1161	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	366	Pro-rich.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A366V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		GGCAGCCCTGCCTCACACCCG	0.652																																						uc004cns.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1096-1098)GCC>GTC		arrestin domain containing 1							55.0	62.0	60.0					9																	140509312		2203	4300	6503	SO:0001583	missense	92714							g.chr9:140509312C>T	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.1097C>T	9.37:g.140509312C>T	ENSP00000360475:p.Ala366Val					ARRDC1_uc004cnt.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.A346V|ARRDC1_uc004cnw.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnp.1_Missense_Mutation_p.A366V|ARRDC1_uc004cnq.1_Missense_Mutation_p.A348V|ARRDC1_uc011mfb.1_Missense_Mutation_p.A241V|ARRDC1_uc004cnx.1_Missense_Mutation_p.A241V|ARRDC1_uc004cny.2_RNA	p.A366V	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	7	1171	+	all_cancers(76;0.106)		366			Pro-rich.			Missense_Mutation	SNP	ENST00000371421.4	37	c.1097C>T	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	5.212	0.224645	0.09916	.	.	ENSG00000197070	ENST00000371421	T	0.12147	2.71	5.09	-0.354	0.12591	.	1.899020	0.02249	N	0.066426	T	0.10208	0.0250	N	0.19112	0.55	0.09310	N	1	B;B	0.18863	0.031;0.006	B;B	0.11329	0.006;0.003	T	0.34304	-0.9834	10	0.56958	D	0.05	-36.9967	6.0618	0.19842	0.0:0.383:0.3904:0.2266	.	255;366	Q59FD7;Q8N5I2	.;ARRD1_HUMAN	V	366	ENSP00000360475:A366V	ENSP00000360475:A366V	A	+	2	0	ARRDC1	139629133	0.000000	0.05858	0.007000	0.13788	0.054000	0.15201	-0.193000	0.09573	-0.048000	0.13401	0.456000	0.33151	GCC		PASS	0.652	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		24	75	24	75	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7262489	7262489	+	Missense_Mutation	SNP	C	C	A	rs144518591	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:7262489C>A	ENST00000361972.4	-	11	1304	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S405I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	405					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S405I(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAAACCTCGACTGAATGATGT	0.502																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1213-1215)AGT>ATT		Scm-like with four mbt domains 2							176.0	154.0	161.0					10																	7262489		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262489C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1214G>T	10.37:g.7262489C>A	ENSP00000355109:p.Ser405Ile					SFMBT2_uc001ijn.1_Missense_Mutation_p.S405I|SFMBT2_uc010qay.1_Intron	p.S405I	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			11	1305	-			405			MBT 4.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1214G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267780	0.40095	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.41400	1.0;1.0	5.03	5.03	0.67393	.	0.263356	0.49305	D	0.000150	T	0.40932	0.1137	L	0.50333	1.59	0.80722	D	1	P	0.35383	0.498	B	0.37989	0.262	T	0.35126	-0.9801	10	0.46703	T	0.11	.	13.6871	0.62522	0.0:0.845:0.155:0.0	.	405	Q5VUG0	SMBT2_HUMAN	I	405	ENSP00000355109:S405I;ENSP00000380353:S405I	ENSP00000355109:S405I	S	-	2	0	SFMBT2	7302495	1.000000	0.71417	0.877000	0.34402	0.771000	0.43674	1.402000	0.34600	2.332000	0.79248	0.563000	0.77884	AGT		PASS	0.502	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		47	46	47	46	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16942801	16942801	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:16942801C>G	ENST00000377833.4	-	53	8298	c.8233G>C	c.(8233-8235)Gac>Cac	p.D2745H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2745	CUB 20. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D2745H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGACAGAGTCCCAAGCACAA	0.433																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8233-8235)GAC>CAC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						95.0	82.0	87.0					10																	16942801		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16942801C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8233G>C	10.37:g.16942801C>G	ENSP00000367064:p.Asp2745His					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D101H	p.D2745H	NM_001081	NP_001072	O60494	CUBN_HUMAN			53	8285	-			2745			CUB 20.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8233G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696837	0.68386	.	.	ENSG00000107611	ENST00000377833	T	0.35236	1.32	5.59	5.59	0.84812	CUB (5);	0.000000	0.47455	D	0.000236	T	0.76442	0.3988	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84986	0.0891	10	0.72032	D	0.01	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	2745	O60494	CUBN_HUMAN	H	2745	ENSP00000367064:D2745H	ENSP00000367064:D2745H	D	-	1	0	CUBN	16982807	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	5.518000	0.67068	2.783000	0.95769	0.655000	0.94253	GAC		PASS	0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		30	38	30	38	---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35333790	35333790	+	Silent	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:35333790A>C	ENST00000374748.1	-	8	826	c.513T>G	c.(511-513)cgT>cgG	p.R171R	CUL2_ENST00000374746.1_Silent_p.R171R|CUL2_ENST00000537177.1_Silent_p.R190R|CUL2_ENST00000374749.3_Silent_p.R171R|CUL2_ENST00000602371.1_Silent_p.R114R|CUL2_ENST00000374742.1_Silent_p.R171R|CUL2_ENST00000374751.3_Silent_p.R171R			Q13617	CUL2_HUMAN	cullin 2	171					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.R171R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTTCTCCACCACGATCACTAA	0.333																																						uc001ixv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(511-513)CGT>CGG		cullin 2							77.0	77.0	77.0					10																	35333790		2203	4296	6499	SO:0001819	synonymous_variant	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35333790A>C	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.513T>G	10.37:g.35333790A>C						CUL2_uc009xma.2_Silent_p.R40R|CUL2_uc010qer.1_Silent_p.R190R|CUL2_uc001ixw.2_Silent_p.R171R|CUL2_uc010qes.1_Silent_p.R108R	p.R171R	NM_003591	NP_003582	Q13617	CUL2_HUMAN			7	723	-			171					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	ENST00000374748.1	37	c.513T>G	CCDS7179.1																																																																																				PASS	0.333	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		44	59	44	59	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37422844	37422844	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:37422844C>A	ENST00000602533.1	+	5	549	c.450C>A	c.(448-450)tgC>tgA	p.C150*	ANKRD30A_ENST00000374660.1_Splice_Site_p.C150*|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Splice_Site_p.C150*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	206					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C150*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTATTTTAGCACAGCCCTCA	0.358																																						uc001iza.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(448-450)TGC>TGA		ankyrin repeat domain 30A							143.0	132.0	135.0					10																	37422844		1902	4122	6024	SO:0001630	splice_region_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422844C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.450-1C>A	10.37:g.37422844C>A							p.C150*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			5	549	+			206			ANK 5.		Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.450C>A		.	.	.	.	.	.	.	.	.	.	.	24.6	4.544480	0.86022	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	1.43	0.074	0.14393	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2605	0.10739	0.5984:0.4016:0.0:0.0	.	.	.	.	X	150	.	.	C	+	3	2	ANKRD30A	37462850	0.999000	0.42202	0.683000	0.30040	0.466000	0.32739	0.728000	0.26013	-0.125000	0.11703	0.289000	0.19496	TGC		PASS	0.358	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	Nonsense_Mutation	81	135	81	135	---	---	---	---
GDF10	2662	broad.mit.edu	37	10	48429340	48429341	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:48429340_48429341GG>CT	ENST00000224605.2	-	2	810_811	c.545_546CC>AG	c.(544-546)gCC>gAG	p.A182E		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	182					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.A182A(1)|p.A182E(1)|p.A182D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCCCTGTGTGGCCGTGTTCTG	0.738																																						uc001jfb.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(1)|central_nervous_system(1)	2						c.(544-546)GCC>GCG|c.(544-546)GCC>GAC		growth differentiation factor 10 precursor																																				SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429340G>C|g.chr10:48429341G>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.545_546delinsCT	10.37:g.48429340_48429341delinsCT	ENSP00000224605:p.Ala182Glu					GDF10_uc009xnp.2_Silent_p.A181A|GDF10_uc009xnq.1_Silent_p.A182A|GDF10_uc009xnp.2_Missense_Mutation_p.A181D|GDF10_uc009xnq.1_Missense_Mutation_p.A182D	p.A182A|p.A182D	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1002|1001	-			182					Q5VSQ8|Q9UCX6	Silent|Missense_Mutation	SNP	ENST00000224605.2	37	c.546C>G|c.545C>A	CCDS7220.1																																																																																				PASS	0.738	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		8	6	8	6	---	---	---	---
MSMB	4477	broad.mit.edu	37	10	51556783	51556783	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:51556783A>G	ENST00000358559.2	+	3	229	c.142A>G	c.(142-144)Ata>Gta	p.I48V	MSMB_ENST00000298239.6_Intron|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	48						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.I48V(1)		lung(4)|ovary(2)|prostate(1)	7						CAAACACCCAATAAACTCGGA	0.433																																						uc001jiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(142-144)ATA>GTA		beta-microseminoprotein isoform a precursor							113.0	91.0	99.0					10																	51556783		2203	4300	6503	SO:0001583	missense	4477	Hereditary_Prostate_Cancer				extracellular space|nucleus		g.chr10:51556783A>G	BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.142A>G	10.37:g.51556783A>G	ENSP00000351363:p.Ile48Val					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Intron	p.I48V	NM_002443	NP_002434	P08118	MSMB_HUMAN			3	174	+			48					B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	c.142A>G	CCDS7235.1	.	.	.	.	.	.	.	.	.	.	a	9.200	1.028208	0.19512	.	.	ENSG00000138294	ENST00000358559	T	0.08634	3.07	3.97	-7.21	0.01490	.	0.998542	0.08104	N	0.997225	T	0.05273	0.0140	L	0.41824	1.3	0.09310	N	0.999992	B	0.09022	0.002	B	0.09377	0.004	T	0.42068	-0.9473	10	0.51188	T	0.08	-0.2578	2.0542	0.03578	0.4364:0.2863:0.1648:0.1125	.	48	P08118	MSMB_HUMAN	V	48	ENSP00000351363:I48V	ENSP00000351363:I48V	I	+	1	0	MSMB	51226789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.998000	0.01469	-1.458000	0.01916	-1.489000	0.00976	ATA		PASS	0.433	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		28	36	28	36	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55568916	55568916	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:55568916A>T	ENST00000395445.1	-	36	5288	c.4894T>A	c.(4894-4896)Tct>Act	p.S1632T	PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.S497T|PCDH15_ENST00000395446.1_Missense_Mutation_p.S828T|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.S566T|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCAGAGGGTGTCTCT	0.463										HNSCC(58;0.16)																												uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4909-4911)TCT>ACT		protocadherin 15 isoform CD2-1 precursor							131.0	109.0	116.0					10																	55568916		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568916A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4894T>A	10.37:g.55568916A>T	ENSP00000378832:p.Ser1632Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.S1630T|PCDH15_uc010qhu.1_3'UTR	p.S1637T	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5304	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4909T>A		.	.	.	.	.	.	.	.	.	.	A	18.35	3.605411	0.66445	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68181	-0.31;-0.31;-0.31;2.53	5.15	5.15	0.70609	.	.	.	.	.	T	0.53142	0.1778	N	0.14661	0.345	0.80722	D	1	P;P	0.50443	0.935;0.935	B;B	0.43194	0.411;0.411	T	0.62868	-0.6763	9	0.87932	D	0	.	14.8029	0.69929	1.0:0.0:0.0:0.0	.	1630;1632	C6ZEF5;A2A3E2	.;.	T	1632;828;497;566	ENSP00000378832:S1632T;ENSP00000378833:S828T;ENSP00000378829:S497T;ENSP00000378827:S566T	ENSP00000378827:S566T	S	-	1	0	PCDH15	55238922	0.998000	0.40836	0.693000	0.30195	0.925000	0.55904	3.988000	0.56951	2.159000	0.67721	0.533000	0.62120	TCT		PASS	0.463	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		45	50	45	50	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78713682	78713682	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:78713682C>A	ENST00000286628.8	-	21	2360	c.2361G>T	c.(2359-2361)agG>agT	p.R787S	KCNMA1_ENST00000372440.1_Splice_Site_p.R729S|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Splice_Site_p.R729S|KCNMA1_ENST00000406533.3_Splice_Site_p.R791S|KCNMA1_ENST00000404771.3_Splice_Site_p.R787S|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Splice_Site_p.R729S|KCNMA1_ENST00000404857.1_Splice_Site_p.R729S|KCNMA1_ENST00000354353.5_Splice_Site_p.R790S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	787					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R729S(1)|p.R791S(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AGGGGTCATGCCTGGGAAGAA	0.428																																						uc001jxn.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(2359-2361)AGG>AGT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						89.0	82.0	84.0					10																	78713682		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78713682C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2361-1G>T	10.37:g.78713682C>A						KCNMA1_uc001jxj.2_Missense_Mutation_p.R733S|KCNMA1_uc001jxk.1_Missense_Mutation_p.R405S|KCNMA1_uc009xrt.1_Missense_Mutation_p.R578S|KCNMA1_uc001jxl.1_Missense_Mutation_p.R412S|KCNMA1_uc001jxo.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxm.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxq.2_Missense_Mutation_p.R732S	p.R787S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		21	2538	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		787			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2361G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	14.90|14.90|14.90	2.672479|2.672479|2.672479	0.47781|0.47781|0.47781	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.|D;D;D;D;D;D;D;D;D	.|.|0.83755	.|.|-1.73;-1.74;-1.72;-1.72;-1.72;-1.73;-1.72;-1.74;-1.76	5.99|5.99|5.99	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.86732|0.86732|0.86732	0.6003|0.6003|0.6003	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|.|D;B;B;P;B;B;B;B	.|.|0.65815	.|.|0.995;0.069;0.059;0.895;0.005;0.013;0.01;0.004	.|.|D;B;B;B;B;B;B;B	.|.|0.78314	.|.|0.991;0.032;0.018;0.366;0.017;0.004;0.018;0.008	D|D|D	0.85365|0.85365|0.85365	0.1110|0.1110|0.1110	5|5|10	.|.|0.37606	.|.|T	.|.|0.19	.|.|.	11.047|11.047|11.047	0.47865|0.47865|0.47865	0.0:0.8456:0.0:0.1544|0.0:0.8456:0.0:0.1544|0.0:0.8456:0.0:0.1544	.|.|.	.|.|758;732;729;787;729;540;790;729	.|.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.|.;.;.;KCMA1_HUMAN;.;.;.;.	S|V|S	718;437|680|729;666;722;761;724;729;729;761;791;790;729;540	.|.|ENSP00000361517:R729S;ENSP00000361485:R666S;ENSP00000361514:R722S;ENSP00000396608:R761S;ENSP00000361520:R729S;ENSP00000286627:R729S;ENSP00000385552:R791S;ENSP00000346321:R790S;ENSP00000385806:R729S	.|.|ENSP00000286627:R729S	A|G|R	-|-|-	1|2|3	0|0|2	KCNMA1|KCNMA1|KCNMA1	78383688|78383688|78383688	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	0.945000|0.945000|0.945000	0.29056|0.29056|0.29056	1.467000|1.467000|1.467000	0.48044|0.48044|0.48044	0.639000|0.639000|0.639000	0.83563|0.83563|0.83563	GCA|GGC|AGG		PASS	0.428	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Missense_Mutation	28	19	28	19	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89711893	89711893	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:89711893C>A	ENST00000371953.3	+	6	1868	c.511C>A	c.(511-513)Cag>Aag	p.Q171K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Q171*(9)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Q171E(2)|p.Q171K(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170_Q171del(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTCCCAGTCAGAGGCGCTA	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		70	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Nonsense(9)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(3)|Deletion - In frame(2)	p.Q171*(9)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.Q171P(2)|p.Y27fs*1(2)|p.Q171E(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.Q171H(1)|p.S170fs*8(1)	central_nervous_system(23)|prostate(16)|skin(8)|endometrium(6)|lung(5)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	HM971504	PTEN	M		c.(511-513)CAG>AAG		phosphatase and tensin homolog							120.0	124.0	123.0					10																	89711893		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711893C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.511C>A	10.37:g.89711893C>A	ENSP00000361021:p.Gln171Lys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Q171K	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1542	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	171	Q->A,E: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.		Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.511C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088129	0.94100	.	.	ENSG00000171862	ENST00000371953	D	0.99488	-6.0	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.114128	0.64402	D	0.000007	D	0.99680	0.9880	H	0.98594	4.275	0.80722	D	1	D	0.58268	0.982	P	0.54401	0.751	D	0.97744	1.0210	9	.	.	.	-3.5947	19.9308	0.97118	0.0:1.0:0.0:0.0	.	171	P60484	PTEN_HUMAN	K	171	ENSP00000361021:Q171K	.	Q	+	1	0	PTEN	89701873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CAG		PASS	0.353	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		117	131	117	131	---	---	---	---
CYP17A1	1586	broad.mit.edu	37	10	104590602	104590602	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:104590602T>A	ENST00000369887.3	-	8	1555	c.1384A>T	c.(1384-1386)Agg>Tgg	p.R462W	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	462					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.R462W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGGTCGAACCTCTGCAGCAGC	0.567																																						uc001kwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1384-1386)AGG>TGG		cytochrome P450, family 17	NADH(DB00157)|Progesterone(DB00396)						33.0	28.0	30.0					10																	104590602		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104590602T>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1384A>T	10.37:g.104590602T>A	ENSP00000358903:p.Arg462Trp					C10orf26_uc009xxg.1_RNA	p.R462W	NM_000102	NP_000093	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1556	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	462					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.1384A>T	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514862	0.85389	.	.	ENSG00000148795	ENST00000369887	T	0.71103	-0.54	5.62	4.46	0.54185	.	0.140999	0.64402	D	0.000006	D	0.84051	0.5387	M	0.83223	2.63	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.85511	0.1197	10	0.87932	D	0	.	12.3496	0.55141	0.0:0.0:0.1413:0.8587	.	462	P05093	CP17A_HUMAN	W	462	ENSP00000358903:R462W	ENSP00000358903:R462W	R	-	1	2	CYP17A1	104580592	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.945000	0.40273	0.915000	0.36847	0.454000	0.30748	AGG		PASS	0.567	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		6	9	6	9	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115412757	115412757	+	Silent	SNP	G	G	A	rs138386465		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:115412757G>A	ENST00000359988.3	-	6	751	c.507C>T	c.(505-507)agC>agT	p.S169S	NRAP_ENST00000369360.3_Silent_p.S169S|NRAP_ENST00000360478.3_Silent_p.S169S|NRAP_ENST00000369358.4_Silent_p.S169S	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S169R(1)|p.S169S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCTGGAAAGCTCCCCTTGC	0.473																																						uc001laj.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S169R(1)	ovary(1)|lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(505-507)AGC>AGT		nebulin-related anchoring protein isoform S							179.0	155.0	163.0					10																	115412757		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115412757G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.507C>T	10.37:g.115412757G>A						NRAP_uc001lak.2_Silent_p.S169S|NRAP_uc001lal.3_Silent_p.S169S	p.S169S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	6	671	-		Colorectal(252;0.0233)|Breast(234;0.188)	169						Silent	SNP	ENST00000359988.3	37	c.507C>T	CCDS7579.1																																																																																				PASS	0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		36	137	36	137	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131757215	131757215	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:131757215G>C	ENST00000355311.5	-	5	540	c.468C>G	c.(466-468)acC>acG	p.T156T	EBF3_ENST00000368648.3_Silent_p.T156T			Q9H4W6	COE3_HUMAN	early B-cell factor 3	156					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T156T(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGATCTCGTGGGTCAGCAGCA	0.726																																						uc001lki.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(466-468)ACC>ACG		early B-cell factor 3							31.0	34.0	33.0					10																	131757215		2202	4299	6501	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131757215G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.468C>G	10.37:g.131757215G>C							p.T156T	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	5	527	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	156			C5-type (Potential).		A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.468C>G																																																																																					PASS	0.726	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		7	47	7	47	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131761760	131761760	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr10:131761760G>A	ENST00000355311.5	-	2	234	c.162C>T	c.(160-162)ttC>ttT	p.F54F	EBF3_ENST00000368648.3_Silent_p.F54F			Q9H4W6	COE3_HUMAN	early B-cell factor 3	54					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F54F(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCTGCTTCTCGAAGTGCGCCC	0.706																																						uc001lki.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(160-162)TTC>TTT		early B-cell factor 3							31.0	35.0	34.0					10																	131761760		2202	4300	6502	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761760G>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.162C>T	10.37:g.131761760G>A						EBF3_uc010qur.1_Silent_p.F40F	p.F54F	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	221	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	54					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.162C>T																																																																																					PASS	0.706	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		35	17	35	17	---	---	---	---
TH	7054	broad.mit.edu	37	11	2190926	2190926	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:2190926C>A	ENST00000381178.1	-	3	377	c.359G>T	c.(358-360)aGg>aTg	p.R120M	TH_ENST00000381175.1_Missense_Mutation_p.R116M|TH_ENST00000352909.3_Missense_Mutation_p.R89M|TH_ENST00000333684.5_Missense_Mutation_p.R93M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	120					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)	p.R120M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTTGGTGGCCCTCGGGGAGAA	0.672																																						uc001lvq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)AGG>ATG		tyrosine hydroxylase isoform a	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						62.0	67.0	65.0					11																	2190926		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2190926C>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.359G>T	11.37:g.2190926C>A	ENSP00000370571:p.Arg120Met					TH_uc001lvp.2_Missense_Mutation_p.R116M|TH_uc001lvr.2_Missense_Mutation_p.R89M|TH_uc010qxj.1_Missense_Mutation_p.R93M|TH_uc001lvs.2_Missense_Mutation_p.R89M|TH_uc001lvt.2_Missense_Mutation_p.R93M|TH_uc009ydh.1_5'Flank	p.R120M	NM_199292	NP_954986	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	3	378	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	120					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.359G>T	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782484	0.31502	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	3.59	1.56	0.23342	.	0.286767	0.37095	N	0.002249	D	0.96993	0.9018	L	0.59436	1.845	0.09310	N	0.999999	B;B;B;P;P;P	0.50528	0.391;0.028;0.028;0.852;0.823;0.936	B;B;B;P;P;P	0.53809	0.235;0.016;0.016;0.627;0.547;0.735	D	0.92521	0.6025	10	0.87932	D	0	.	3.0392	0.06133	0.2249:0.497:0.0:0.2781	.	93;93;89;89;120;116	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	M	120;116;89;93	ENSP00000370571:R120M;ENSP00000370567:R116M;ENSP00000325951:R89M;ENSP00000328814:R93M	ENSP00000328814:R93M	R	-	2	0	TH	2147502	0.015000	0.18098	0.003000	0.11579	0.411000	0.31082	0.222000	0.17699	0.614000	0.30107	0.491000	0.48974	AGG		PASS	0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		21	52	21	52	---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4903764	4903764	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:4903764A>T	ENST00000322049.1	+	1	635	c.635A>T	c.(634-636)gAc>gTc	p.D212V	OR51T1_ENST00000380378.1_Missense_Mutation_p.D239V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D239V(1)|p.D212V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGCACTGACGTATTGTTT	0.443																																						uc010qyp.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(715-717)GAC>GTC		olfactory receptor, family 51, subfamily T,							115.0	107.0	110.0					11																	4903764		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903764A>T	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.635A>T	11.37:g.4903764A>T	ENSP00000322679:p.Asp212Val						p.D239V	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	716	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	212			Helical; Name=5; (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.716A>T		.	.	.	.	.	.	.	.	.	.	A	11.31	1.600072	0.28534	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.35973	1.28;1.28	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000281	T	0.72661	0.3488	H	0.97214	3.96	0.50813	D	0.999897	D	0.89917	1.0	D	0.91635	0.999	T	0.82859	-0.0249	10	0.87932	D	0	.	13.6547	0.62330	1.0:0.0:0.0:0.0	.	212	Q8NGJ9	O51T1_HUMAN	V	239;212	ENSP00000369738:D239V;ENSP00000322679:D212V	ENSP00000322679:D212V	D	+	2	0	OR51T1	4860340	0.921000	0.31238	0.970000	0.41538	0.054000	0.15201	2.127000	0.42035	2.101000	0.63845	0.397000	0.26171	GAC		PASS	0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		58	73	58	73	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5968758	5968758	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:5968758A>T	ENST00000329564.6	+	1	189	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q61L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTGCACCAGCCCCTGTAC	0.612																																						uc010qzt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)CAG>CTG		olfactory receptor, family 56, subfamily A,							122.0	122.0	122.0					11																	5968758		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968758A>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.182A>T	11.37:g.5968758A>T	ENSP00000331572:p.Gln61Leu						p.Q61L	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	182	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	61			Helical; Name=2; (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.182A>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852496	0.51270	.	.	ENSG00000184478	ENST00000329564	T	0.00372	7.73	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.591287	0.15870	N	0.240563	T	0.00524	0.0017	M	0.86178	2.8	0.24548	N	0.994036	B	0.25850	0.136	B	0.28553	0.091	T	0.28808	-1.0032	10	0.87932	D	0	-4.7905	11.3016	0.49309	1.0:0.0:0.0:0.0	.	61	Q8NH54	O56A3_HUMAN	L	61	ENSP00000331572:Q61L	ENSP00000331572:Q61L	Q	+	2	0	OR56A3	5925334	0.023000	0.18921	0.923000	0.36655	0.982000	0.71751	0.692000	0.25482	2.167000	0.68274	0.524000	0.50904	CAG		PASS	0.612	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		71	102	71	102	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22257761	22257761	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:22257761G>A	ENST00000324559.8	+	8	1018	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	234					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.R234K(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGAAGAAAAGGTTTGGGATT	0.373																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(700-702)AGG>AAG		anoctamin 5 isoform a							212.0	187.0	195.0					11																	22257761		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22257761G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.701G>A	11.37:g.22257761G>A	ENSP00000315371:p.Arg234Lys					ANO5_uc001mqj.2_Missense_Mutation_p.R233K	p.R234K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			8	1018	+			234			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.701G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	7.219	0.596966	0.13875	.	.	ENSG00000171714	ENST00000324559	T	0.63744	-0.06	5.77	-4.94	0.03057	.	0.265343	0.48286	N	0.000195	T	0.22282	0.0537	N	0.00666	-1.275	0.23325	N	0.997901	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.02654	T	1	.	16.7797	0.85560	0.8744:0.0:0.1256:0.0	.	234	Q75V66	ANO5_HUMAN	K	234	ENSP00000315371:R234K	ENSP00000315371:R234K	R	+	2	0	ANO5	22214337	1.000000	0.71417	0.881000	0.34555	0.956000	0.61745	2.178000	0.42519	-0.653000	0.05401	-0.312000	0.09012	AGG		PASS	0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		33	104	33	104	---	---	---	---
ACCSL	390110	broad.mit.edu	37	11	44072153	44072153	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:44072153G>A	ENST00000378832.1	+	3	672	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	206					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.D206N(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TCAGTACCCTGATTGGAGAGG	0.468																																						uc001mxw.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(616-618)GAT>AAT		1-aminocyclopropane-1-carboxylate synthase							177.0	176.0	177.0					11																	44072153		1963	4171	6134	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44072153G>A		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.616G>A	11.37:g.44072153G>A	ENSP00000368109:p.Asp206Asn					ACCSL_uc009ykr.2_Missense_Mutation_p.D25N	p.D206N	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN			3	672	+			206						Missense_Mutation	SNP	ENST00000378832.1	37	c.616G>A	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673858	0.67928	.	.	ENSG00000205126	ENST00000378832	D	0.91068	-2.78	5.08	2.22	0.28083	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.146393	0.64402	N	0.000014	D	0.93802	0.8018	M	0.86864	2.845	0.37245	D	0.906304	D	0.54207	0.965	P	0.58391	0.838	D	0.93504	0.6847	10	0.87932	D	0	-10.4172	8.5866	0.33662	0.2539:0.0:0.7461:0.0	.	206	Q4AC99	1A1L2_HUMAN	N	206	ENSP00000368109:D206N	ENSP00000368109:D206N	D	+	1	0	ACCSL	44028729	0.998000	0.40836	0.002000	0.10522	0.480000	0.33159	3.034000	0.49751	0.327000	0.23409	0.655000	0.94253	GAT		PASS	0.468	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		66	164	66	164	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003673	50003673	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:50003673A>T	ENST00000335238.4	-	1	398	c.365T>A	c.(364-366)gTg>gAg	p.V122E		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122E(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAGATGGCCACATAGCAGTC	0.493																																						uc010ria.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(364-366)GTG>GAG		olfactory receptor, family 4, subfamily C,							153.0	153.0	153.0					11																	50003673		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003673A>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.365T>A	11.37:g.50003673A>T	ENSP00000334418:p.Val122Glu						p.V122E	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	365	-			122			Cytoplasmic (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.365T>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	18.74	3.688091	0.68271	.	.	ENSG00000221954	ENST00000335238	T	0.01464	4.86	3.31	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.230145	0.22025	U	0.065676	T	0.16557	0.0398	H	0.97829	4.085	0.43368	D	0.995452	D	0.71674	0.998	D	0.73380	0.98	T	0.03166	-1.1065	10	0.87932	D	0	.	10.0552	0.42241	1.0:0.0:0.0:0.0	.	122	Q96R67	OR4CC_HUMAN	E	122	ENSP00000334418:V122E	ENSP00000334418:V122E	V	-	2	0	OR4C12	49960249	0.929000	0.31497	1.000000	0.80357	0.864000	0.49448	6.759000	0.74934	1.528000	0.49103	0.325000	0.21440	GTG		PASS	0.493	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		6	314	6	314	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55322725	55322725	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:55322725C>G	ENST00000314644.2	+	1	943	c.943C>G	c.(943-945)Cca>Gca	p.P315A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P315A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TACACGACCTCCATCTGCTTT	0.398										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(943-945)CCA>GCA		olfactory receptor, family 4, subfamily C,							226.0	223.0	224.0					11																	55322725		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322725C>G	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.943C>G	11.37:g.55322725C>G	ENSP00000324958:p.Pro315Ala	HNSCC(20;0.049)					p.P315A	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	943	+			261			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.943C>G	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	1.601	-0.526550	0.04141	.	.	ENSG00000181939	ENST00000314644	T	0.00091	8.74	5.02	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04820	-0.15	0.25402	N	0.988431	B	0.20459	0.045	B	0.26693	0.072	T	0.05599	-1.0875	9	0.05525	T	0.97	.	13.1704	0.59595	0.0:0.8383:0.1617:0.0	.	261	Q8NGM1	OR4CF_HUMAN	A	315	ENSP00000324958:P315A	ENSP00000324958:P315A	P	+	1	0	OR4C15	55079301	0.000000	0.05858	0.578000	0.28575	0.274000	0.26718	-1.405000	0.02492	1.320000	0.45209	0.385000	0.25706	CCA		PASS	0.398	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		96	318	96	318	---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563693	55563693	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:55563693T>A	ENST00000335605.1	+	1	662	c.662T>A	c.(661-663)gTt>gAt	p.V221D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTTCCTATGTTTTCATTTTT	0.473																																						uc010rim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(661-663)GTT>GAT		olfactory receptor, family 5, subfamily D,							181.0	170.0	174.0					11																	55563693		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563693T>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.662T>A	11.37:g.55563693T>A	ENSP00000334456:p.Val221Asp						p.V221D	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	662	+		all_epithelial(135;0.196)	221			Cytoplasmic (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.662T>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	t	10.28	1.306898	0.23821	.	.	ENSG00000186113	ENST00000335605	T	0.00274	8.35	5.08	-0.204	0.13200	GPCR, rhodopsin-like superfamily (1);	1.022160	0.07843	N	0.963331	T	0.00384	0.0012	M	0.79475	2.455	0.09310	N	0.999998	P	0.42078	0.77	P	0.48921	0.595	T	0.37430	-0.9706	10	0.72032	D	0.01	-3.8229	4.7833	0.13213	0.0:0.3347:0.1631:0.5021	.	221	Q8NGL3	OR5DE_HUMAN	D	221	ENSP00000334456:V221D	ENSP00000334456:V221D	V	+	2	0	OR5D14	55320269	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.516000	0.02250	0.289000	0.22422	0.523000	0.50628	GTT		PASS	0.473	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		115	229	115	229	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927656	55927656	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:55927656G>A	ENST00000313447.1	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I46I(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGTCAAAATGATCATAGTTA	0.433																																						uc010rja.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(136-138)ATC>ATT		olfactory receptor, family 8, subfamily K,							141.0	137.0	139.0					11																	55927656		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927656G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.138C>T	11.37:g.55927656G>A							p.I46I	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	138	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	46			Helical; Name=1; (Potential).		Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.138C>T	CCDS31521.1																																																																																				PASS	0.433	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		74	164	74	164	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468292	56468292	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:56468292G>A	ENST00000312153.1	+	1	429	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L143L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTGCATTGCTGGTAGCAGTCT	0.468																																						uc010rjn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(427-429)CTG>CTA		olfactory receptor, family 9, subfamily G,							208.0	193.0	198.0					11																	56468292		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468292G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.429G>A	11.37:g.56468292G>A							p.L143L	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	429	+			143			Helical; Name=4; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.429G>A	CCDS31536.1																																																																																				PASS	0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		38	353	38	353	---	---	---	---
LPXN	9404	broad.mit.edu	37	11	58294964	58294964	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:58294964T>C	ENST00000395074.2	-	9	1212	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	LPXN_ENST00000528489.1_Missense_Mutation_p.Y355C|LPXN_ENST00000528954.1_Missense_Mutation_p.Y380C	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	375	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.Y380C(1)|p.Y375C(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGGTTGACAATAGGTCTTGTC	0.443																																						uc001nmw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1123-1125)TAT>TGT		leupaxin isoform 2							97.0	93.0	94.0					11																	58294964		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58294964T>C	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.1124A>G	11.37:g.58294964T>C	ENSP00000378512:p.Tyr375Cys					LPXN_uc009ymp.2_Missense_Mutation_p.Y245C|LPXN_uc010rkj.1_Missense_Mutation_p.Y380C|LPXN_uc010rkk.1_Missense_Mutation_p.Y355C	p.Y375C	NM_004811	NP_004802	O60711	LPXN_HUMAN			9	1269	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	375			LIM zinc-binding 4.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.1124A>G	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505655	0.85282	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.91180	-2.8;-2.8	6.03	6.03	0.97812	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.98052	1.0388	10	0.87932	D	0	.	15.5549	0.76184	0.0:0.0:0.0:1.0	.	355;380;375	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	C	380;375	ENSP00000431284:Y380C;ENSP00000378512:Y375C	ENSP00000378512:Y375C	Y	-	2	0	LPXN	58051540	1.000000	0.71417	0.955000	0.39395	0.985000	0.73830	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	TAT		PASS	0.443	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		53	122	53	122	---	---	---	---
MS4A3	932	broad.mit.edu	37	11	59837686	59837686	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:59837686T>A	ENST00000278865.3	+	7	698	c.625T>A	c.(625-627)Tca>Aca	p.S209T	MS4A3_ENST00000395032.2_Missense_Mutation_p.S86T|MS4A3_ENST00000534744.1_Missense_Mutation_p.S163T|MS4A3_ENST00000358152.2_Missense_Mutation_p.S163T	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	209						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S209T(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGAAATTTCCTCACCTCCCAA	0.378																																						uc001nom.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(625-627)TCA>ACA		membrane-spanning 4-domains, subfamily A, member							201.0	177.0	185.0					11																	59837686		2201	4294	6495	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59837686T>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.625T>A	11.37:g.59837686T>A	ENSP00000278865:p.Ser209Thr					MS4A3_uc001non.2_Missense_Mutation_p.S163T|MS4A3_uc001noo.2_Missense_Mutation_p.S86T	p.S209T	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			7	753	+		all_epithelial(135;0.245)	209			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.625T>A	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.552818	0.27739	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.32515	1.45;3.04;1.45	3.26	3.26	0.37387	.	2.649290	0.01259	N	0.009110	T	0.52661	0.1748	L	0.60455	1.87	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	T	0.20638	-1.0269	10	0.34782	T	0.22	-2.1974	8.2474	0.31698	0.0:0.0:0.0:1.0	.	163;209	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	T	86;163;209;163	ENSP00000350872:S163T;ENSP00000278865:S209T;ENSP00000434117:S163T	ENSP00000278865:S209T	S	+	1	0	MS4A3	59594262	0.001000	0.12720	0.060000	0.19600	0.050000	0.14768	0.797000	0.26999	1.729000	0.51567	0.523000	0.50628	TCA		PASS	0.378	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			34	96	34	96	---	---	---	---
MYRF	745	broad.mit.edu	37	11	61539172	61539172	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:61539172T>A	ENST00000278836.5	+	6	1037	c.941T>A	c.(940-942)aTt>aAt	p.I314N	MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.I305N|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	314	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I305N(1)									CCTCTCAGCATTGCCCGTGTC	0.687																																						uc001nsc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(940-942)ATT>AAT		myelin gene regulatory factor isoform 2							66.0	80.0	75.0					11																	61539172		2202	4299	6501	SO:0001583	missense	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61539172T>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.941T>A	11.37:g.61539172T>A	ENSP00000278836:p.Ile314Asn					C11orf9_uc001nse.1_Missense_Mutation_p.I305N	p.I314N	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			6	1037	+			314			NDT80.|Pro-rich.		O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.941T>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	t	12.68	2.010559	0.35511	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.30714	1.52;1.52	4.56	4.56	0.56223	NDT80 DNA-binding domain (1);	0.626446	0.15593	N	0.254282	T	0.21590	0.0520	N	0.08118	0	0.80722	D	1	D;P	0.54964	0.969;0.947	P;P	0.47981	0.563;0.454	T	0.03910	-1.0993	10	0.27785	T	0.31	-20.616	12.8206	0.57690	0.0:0.0:0.0:1.0	.	305;314	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	N	314;305	ENSP00000278836:I314N;ENSP00000265460:I305N	ENSP00000265460:I305N	I	+	2	0	C11orf9	61295748	0.994000	0.37717	0.996000	0.52242	0.615000	0.37417	2.663000	0.46774	1.837000	0.53436	0.375000	0.23000	ATT		PASS	0.687	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		72	165	72	165	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62342867	62342867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:62342867C>T	ENST00000476907.1	-	9	3015	c.2324G>A	c.(2323-2325)tGg>tAg	p.W775*	EEF1G_ENST00000329251.4_5'Flank|TUT1_ENST00000308436.7_Nonsense_Mutation_p.W813*|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	775					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.W813*(1)|p.W775*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGCCCTTGCCACACTCGGTG	0.667																																						uc001nto.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(2437-2439)TGG>TAG		terminal uridylyl transferase 1, U6							50.0	53.0	52.0					11																	62342867		2202	4298	6500	SO:0001587	stop_gained	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62342867C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2324G>A	11.37:g.62342867C>T	ENSP00000419607:p.Trp775*					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Nonsense_Mutation_p.W309*	p.W813*	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			9	2476	-			775					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Nonsense_Mutation	SNP	ENST00000476907.1	37	c.2438G>A		.	.	.	.	.	.	.	.	.	.	C	44	10.845774	0.99477	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1943	15.4801	0.75517	0.0:1.0:0.0:0.0	.	.	.	.	X	813;775	.	ENSP00000308000:W813X	W	-	2	0	TUT1	62099443	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	3.127000	0.50484	2.514000	0.84764	0.655000	0.94253	TGG		PASS	0.667	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		42	90	42	90	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64677243	64677243	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:64677243G>C	ENST00000377264.3	-	14	2129	c.2017C>G	c.(2017-2019)Ctg>Gtg	p.L673V	ATG2A_ENST00000421419.2_Missense_Mutation_p.L673V	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	673					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.L673V(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						GGCTCACTCAGCTCCAGCCGA	0.706																																						uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2017-2019)CTG>GTG		autophagy related 2A							29.0	33.0	31.0					11																	64677243		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64677243G>C		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.2017C>G	11.37:g.64677243G>C	ENSP00000366475:p.Leu673Val						p.L673V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			14	2132	-			673					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2017C>G	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.011092|2.011092	0.35511|0.35511	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.08370	.|3.1;3.1	4.28|4.28	4.28|4.28	0.50868|0.50868	.|.	.|0.201239	.|0.33075	.|N	.|0.005304	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.38531|0.38531	1.155|1.155	0.32731|0.32731	N|N	0.508989|0.508989	.|B	.|0.29188	.|0.236	.|B	.|0.24848	.|0.056	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.19590	.|T	.|0.45	.|.	12.4406|12.4406	0.55623|0.55623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|673	.|Q2TAZ0	.|ATG2A_HUMAN	G|V	474|673	.|ENSP00000410522:L673V;ENSP00000366475:L673V	.|ENSP00000366475:L673V	A|L	-|-	2|1	0|2	ATG2A|ATG2A	64433819|64433819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	2.857000|2.857000	0.48349|0.48349	2.386000|2.386000	0.81285|0.81285	0.561000|0.561000	0.74099|0.74099	GCT|CTG		PASS	0.706	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		21	35	21	35	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64679608	64679608	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:64679608G>T	ENST00000377264.3	-	8	1148	c.1036C>A	c.(1036-1038)Ccc>Acc	p.P346T	ATG2A_ENST00000421419.2_Missense_Mutation_p.P346T	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	346					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.P346T(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						GGGCTGAGGGGCTCAGCCACT	0.627																																						uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1036-1038)CCC>ACC		autophagy related 2A							48.0	53.0	52.0					11																	64679608		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64679608G>T		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.1036C>A	11.37:g.64679608G>T	ENSP00000366475:p.Pro346Thr						p.P346T	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			8	1151	-			346					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1036C>A	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.110|4.110	0.018557|0.018557	0.07959|0.07959	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264;ENST00000227459	.|T;T	.|0.06608	.|3.28;3.28	3.72|3.72	1.81|1.81	0.25067|0.25067	.|.	.|0.314409	.|0.30732	.|N	.|0.008982	T|T	0.05135|0.05135	0.0137|0.0137	L|L	0.36672|0.36672	1.1|1.1	0.22754|0.22754	N|N	0.99877|0.99877	.|B	.|0.17038	.|0.02	.|B	.|0.16722	.|0.016	T|T	0.32214|0.32214	-0.9915|-0.9915	5|10	.|0.52906	.|T	.|0.07	.|.	5.3567|5.3567	0.16065|0.16065	0.2667:0.0:0.7333:0.0|0.2667:0.0:0.7333:0.0	.|.	.|346	.|Q2TAZ0	.|ATG2A_HUMAN	D|T	147|346	.|ENSP00000410522:P346T;ENSP00000366475:P346T	.|ENSP00000227459:P346T	A|P	-|-	2|1	0|0	ATG2A|ATG2A	64436184|64436184	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.768000|0.768000	0.43524|0.43524	1.865000|1.865000	0.39479|0.39479	0.547000|0.547000	0.28938|0.28938	0.561000|0.561000	0.74099|0.74099	GCC|CCC		PASS	0.627	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		37	74	37	74	---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767582	65767582	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:65767582C>T	ENST00000312234.2	-	3	472	c.138G>A	c.(136-138)ggG>ggA	p.G46G	BANF1_ENST00000527348.1_5'Flank|BANF1_ENST00000445560.2_5'Flank|EIF1AD_ENST00000533544.1_Silent_p.G46G|EIF1AD_ENST00000529964.1_Silent_p.G46G|EIF1AD_ENST00000527249.1_Silent_p.G46G|BANF1_ENST00000533166.1_5'Flank|EIF1AD_ENST00000526451.1_Silent_p.G46G|BANF1_ENST00000312175.2_5'Flank|EIF1AD_ENST00000525767.1_5'UTR	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	46	S1-like. {ECO:0000255|PROSITE- ProRule:PRU00181}.					intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)	p.G46G(1)		lung(5)	5						GGAAGCGCTGCCCTTGGGCTG	0.527																																						uc001ogm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)GGG>GGA		eukaryotic translation initiation factor 1A							124.0	111.0	115.0					11																	65767582		2201	4296	6497	SO:0001819	synonymous_variant	84285					nucleus	translation initiation factor activity	g.chr11:65767582C>T	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.138G>A	11.37:g.65767582C>T						EIF1AD_uc001ogn.1_Silent_p.G46G|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	p.G46G	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN			3	423	-			46			S1-like.		B2R4N5|Q9BSC1	Silent	SNP	ENST00000312234.2	37	c.138G>A	CCDS8124.1																																																																																				PASS	0.527	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		54	94	54	94	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71150031	71150031	+	Missense_Mutation	SNP	C	C	A	rs80338857		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:71150031C>A	ENST00000355527.3	-	7	1001	c.725G>T	c.(724-726)cGc>cTc	p.R242L	DHCR7_ENST00000407721.2_Missense_Mutation_p.R242L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	242			R -> C (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:15954111}.|R -> H (in SLOS). {ECO:0000269|PubMed:11427181}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.R242L(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GATCCCGGGGCGCCCATTGAA	0.537									Smith-Lemli-Opitz syndrome																													uc001oqk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2	GRCh37	CM002250	DHCR7	M	rs80338857	c.(724-726)CGC>CTC		7-dehydrocholesterol reductase	NADH(DB00157)						93.0	89.0	90.0					11																	71150031		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71150031C>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.725G>T	11.37:g.71150031C>A	ENSP00000347717:p.Arg242Leu					DHCR7_uc001oql.2_Missense_Mutation_p.R242L	p.R242L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			7	975	-			242		R -> H (in SLOS).|R -> C (in SLOS).			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.725G>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919663	0.92249	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000525137;ENST00000527316	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98089	1.0408	10	0.87932	D	0	-34.5546	15.0962	0.72235	0.0:1.0:0.0:0.0	.	242	Q9UBM7	DHCR7_HUMAN	L	242;242;31;210	ENSP00000384739:R242L;ENSP00000347717:R242L;ENSP00000435956:R31L;ENSP00000435047:R210L	ENSP00000347717:R242L	R	-	2	0	DHCR7	70827679	1.000000	0.71417	0.945000	0.38365	0.920000	0.55202	6.711000	0.74675	2.217000	0.71921	0.478000	0.44815	CGC		PASS	0.537	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	110	3	110	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71155063	71155063	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:71155063G>C	ENST00000355527.3	-	4	573	c.297C>G	c.(295-297)ctC>ctG	p.L99L	DHCR7_ENST00000407721.2_Silent_p.L99L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	99			L -> P (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:9653161}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.L99L(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						ACAAGGTATAGAGCTGGGCGG	0.627									Smith-Lemli-Opitz syndrome																													uc001oqk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(295-297)CTC>CTG		7-dehydrocholesterol reductase	NADH(DB00157)						43.0	33.0	37.0					11																	71155063		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71155063G>C	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.297C>G	11.37:g.71155063G>C						DHCR7_uc001oql.2_Silent_p.L99L	p.L99L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			4	547	-			99		L -> P (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.297C>G	CCDS8200.1																																																																																				PASS	0.627	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		6	20	6	20	---	---	---	---
MOGAT2	80168	broad.mit.edu	37	11	75431154	75431154	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:75431154A>T	ENST00000198801.5	+	2	279	c.209A>T	c.(208-210)cAc>cTc	p.H70L	MOGAT2_ENST00000526712.1_5'UTR	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	70					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.H70L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGGGGCCGGCACATCCAGGCC	0.567																																						uc010rru.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)CAC>CTC		monoacylglycerol O-acyltransferase 2							159.0	165.0	163.0					11																	75431154		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75431154A>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.209A>T	11.37:g.75431154A>T	ENSP00000198801:p.His70Leu					MOGAT2_uc001oww.1_Missense_Mutation_p.H70L|MOGAT2_uc010rrv.1_5'UTR	p.H70L	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			2	209	+	Ovarian(111;0.103)		70					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.209A>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721229	0.48728	.	.	ENSG00000166391	ENST00000198801	T	0.13089	2.62	5.04	-9.49	0.00587	.	0.562659	0.19539	N	0.111851	T	0.04724	0.0128	N	0.16903	0.455	0.22096	N	0.999363	B;B	0.24576	0.001;0.106	B;B	0.26416	0.01;0.069	T	0.12372	-1.0550	10	0.49607	T	0.09	1.2977	2.1327	0.03754	0.2476:0.335:0.262:0.1554	.	70;70	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	L	70	ENSP00000198801:H70L	ENSP00000198801:H70L	H	+	2	0	MOGAT2	75108802	0.002000	0.14202	0.000000	0.03702	0.247000	0.25773	0.481000	0.22260	-1.854000	0.01163	-0.232000	0.12228	CAC		PASS	0.567	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		98	224	98	224	---	---	---	---
DGAT2	84649	broad.mit.edu	37	11	75508290	75508290	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:75508290C>T	ENST00000228027.7	+	6	982	c.722C>T	c.(721-723)gCg>gTg	p.A241V	DGAT2_ENST00000376262.3_Missense_Mutation_p.A198V	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	241					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.A241V(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GTCGGGGGTGCGGCTGAGTCT	0.577																																					Melanoma(35;811 1096 8354 24009 39363)	uc001oxa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)GCG>GTG		diacylglycerol O-acyltransferase 2							144.0	124.0	131.0					11																	75508290		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75508290C>T		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.722C>T	11.37:g.75508290C>T	ENSP00000228027:p.Ala241Val					DGAT2_uc001oxb.2_Missense_Mutation_p.A198V	p.A241V	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN			6	981	+	Ovarian(111;0.103)		241			Cytoplasmic (Potential).		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.722C>T	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106672	0.94292	.	.	ENSG00000062282	ENST00000524706;ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.16597	2.33;2.33	5.99	5.99	0.97316	.	0.045220	0.85682	D	0.000000	T	0.41073	0.1143	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.69479	0.837;0.964	T	0.02037	-1.1225	10	0.49607	T	0.09	-10.6831	19.057	0.93069	0.0:1.0:0.0:0.0	.	198;241	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	V	150;241;198;195	ENSP00000228027:A241V;ENSP00000365438:A198V	ENSP00000228027:A241V	A	+	2	0	DGAT2	75185938	1.000000	0.71417	0.400000	0.26346	0.884000	0.51177	7.405000	0.80007	2.853000	0.98044	0.655000	0.94253	GCG		PASS	0.577	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		5	159	5	159	---	---	---	---
CTSC	1075	broad.mit.edu	37	11	88033701	88033701	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:88033701G>C	ENST00000227266.5	-	5	868	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	252			Q -> L (in PLS). {ECO:0000269|PubMed:10581027, ECO:0000269|PubMed:14974080}.		aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.Q252E(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTTACCTTGGTTTCGAACA	0.368																																						uc001pck.3																			1	Substitution - Missense(1)		lung(1)		0						c.(754-756)CAA>GAA		cathepsin C isoform a preproprotein							82.0	81.0	81.0					11																	88033701		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88033701G>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.754C>G	11.37:g.88033701G>C	ENSP00000227266:p.Gln252Glu					CTSC_uc001pcl.3_Missense_Mutation_p.Q104E	p.Q252E	NM_001814	NP_001805	P53634	CATC_HUMAN			5	855	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	252		Q -> L (in PLS).			A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.754C>G	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538538	0.85917	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.94376	-3.41	5.3	5.3	0.74995	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98385	1.0560	9	.	.	.	.	18.952	0.92644	0.0:0.0:1.0:0.0	.	235;252	B4DJQ8;P53634	.;CATC_HUMAN	E	235;252	ENSP00000227266:Q252E	.	Q	-	1	0	CTSC	87673349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.346000	0.97056	2.488000	0.83962	0.650000	0.86243	CAA		PASS	0.368	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		41	104	41	104	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89429876	89429876	+	RNA	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:89429876A>T	ENST00000532352.1	+	0	1859							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P374P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TAGGGTTACCAGACAGACCTT	0.294																																						uc001pda.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1120-1122)CCA>CCT		folate hydrolase 1B							92.0	88.0	89.0					11																	89429876		2201	4297	6498			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89429876A>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89429876A>T							p.P374P	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			13	1648	+			374						Silent	SNP	ENST00000532352.1	37	c.1122A>T																																																																																					PASS	0.294	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		60	106	60	106	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95825700	95825700	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:95825700C>A	ENST00000524717.1	-	2	2779	c.1495G>T	c.(1495-1497)Ggg>Tgg	p.G499W		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	499					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G499W(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGCTACCCCAGGCATGGGG	0.587			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1495-1497)GGG>TGG		mastermind-like 2							38.0	42.0	40.0					11																	95825700		1944	4138	6082	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825700C>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1495G>T	11.37:g.95825700C>A	ENSP00000434552:p.Gly499Trp						p.G499W	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2780	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	499					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.1495G>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403670	0.42613	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.64260	-0.09;-0.09	5.74	4.81	0.61882	.	0.183165	0.37437	N	0.002094	T	0.55705	0.1937	L	0.50333	1.59	0.37245	D	0.906301	P	0.41673	0.759	B	0.35899	0.213	T	0.66156	-0.5994	10	0.66056	D	0.02	-11.0736	14.9806	0.71309	0.1435:0.8565:0.0:0.0	.	499	Q8IZL2	MAML2_HUMAN	W	499	ENSP00000434552:G499W;ENSP00000412394:G499W	ENSP00000412394:G499W	G	-	1	0	MAML2	95465348	0.998000	0.40836	0.839000	0.33178	0.815000	0.46073	4.945000	0.63568	1.347000	0.45714	0.555000	0.69702	GGG		PASS	0.587	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			21	56	21	56	---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908335	103908335	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:103908335G>T	ENST00000302259.3	+	1	1028	c.785G>T	c.(784-786)gGc>gTc	p.G262V	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	262							aspartic-type endopeptidase activity (GO:0004190)	p.G262V(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTTGACTCGGGCGCCCAGATG	0.532																																						uc001phr.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(784-786)GGC>GTC		DDI1, DNA-damage inducible 1, homolog 1							92.0	96.0	95.0					11																	103908335		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908335G>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.785G>T	11.37:g.103908335G>T	ENSP00000302805:p.Gly262Val					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.G262V	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1028	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	262					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.785G>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747351	0.49257	.	.	ENSG00000170967	ENST00000302259	D	0.84223	-1.82	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95171	0.8290	10	0.87932	D	0	-12.9938	16.6709	0.85266	0.0:0.0:1.0:0.0	.	262	Q8WTU0	DDI1_HUMAN	V	262	ENSP00000302805:G262V	ENSP00000302805:G262V	G	+	2	0	DDI1	103413545	1.000000	0.71417	0.220000	0.23810	0.014000	0.08584	9.016000	0.93645	2.884000	0.98904	0.655000	0.94253	GGC		PASS	0.532	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		12	210	12	210	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106810492	106810492	+	Missense_Mutation	SNP	A	A	T	rs535328414		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:106810492A>T	ENST00000526355.2	-	4	1368	c.900T>A	c.(898-900)aaT>aaA	p.N300K	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N300K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N300K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	300					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.N300K(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TCTTCATGATATTAGTATTTT	0.423																																						uc001pjg.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(898-900)AAT>AAA		guanylate cyclase 1, soluble, alpha 2							84.0	83.0	83.0					11																	106810492		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810492A>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.900T>A	11.37:g.106810492A>T	ENSP00000431245:p.Asn300Lys					GUCY1A2_uc010rvo.1_Missense_Mutation_p.N300K|GUCY1A2_uc009yxn.1_Missense_Mutation_p.N300K	p.N300K	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1290	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	300					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.900T>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	A	2.318	-0.356234	0.05138	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86164	-1.77;-2.08;-1.76	5.77	-11.5	0.00074	NO signalling/Golgi transport  ligand-binding domain (1);	0.442134	0.18253	U	0.146895	T	0.68723	0.3032	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23249	0.049;0.082;0.0	B;B;B	0.21917	0.01;0.037;0.0	T	0.54860	-0.8230	10	0.02654	T	1	.	15.1828	0.72972	0.2389:0.1552:0.606:0.0	.	300;300;300	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	K	300	ENSP00000431245:N300K;ENSP00000282249:N300K;ENSP00000344874:N300K	ENSP00000282249:N300K	N	-	3	2	GUCY1A2	106315702	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.485000	0.06520	-2.892000	0.00315	-1.286000	0.01371	AAT		PASS	0.423	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			51	94	51	94	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118368740	118368740	+	Missense_Mutation	SNP	C	C	A	rs555459464		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:118368740C>A	ENST00000389506.5	+	21	5745	c.5745C>A	c.(5743-5745)gaC>gaA	p.D1915E	KMT2A_ENST00000534358.1_Missense_Mutation_p.D1918E|KMT2A_ENST00000354520.4_Missense_Mutation_p.D1877E			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1915					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.D1918E(1)|p.D1915E(1)									AAGATGATGACGGATCACTAA	0.403																																						uc001pta.2										T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		2	Substitution - Missense(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5743-5745)GAC>GAA		myeloid/lymphoid or mixed-lineage leukemia							161.0	149.0	153.0					11																	118368740		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118368740C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5745C>A	11.37:g.118368740C>A	ENSP00000374157:p.Asp1915Glu					MLL_uc001ptb.2_Missense_Mutation_p.D1918E	p.D1915E	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	21	5768	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1915					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5745C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320200	0.41096	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.70164	-0.46;-0.46;-0.46	5.35	-3.88	0.04205	.	0.053336	0.64402	D	0.000001	T	0.50292	0.1607	N	0.21373	0.66	0.48395	D	0.999643	P;P	0.43607	0.659;0.812	B;B	0.43658	0.343;0.426	T	0.49234	-0.8961	10	0.42905	T	0.14	.	12.9083	0.58164	0.0:0.4191:0.0:0.5809	.	1918;1915	E9PQG7;Q03164	.;MLL1_HUMAN	E	1918;1915;1877;825	ENSP00000436786:D1918E;ENSP00000374157:D1915E;ENSP00000346516:D1877E	ENSP00000346516:D1877E	D	+	3	2	MLL	117873950	0.983000	0.35010	0.905000	0.35620	0.900000	0.52787	0.155000	0.16362	-0.689000	0.05149	-2.110000	0.00354	GAC		PASS	0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		80	193	80	193	---	---	---	---
TMEM25	84866	broad.mit.edu	37	11	118403023	118403023	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:118403023T>A	ENST00000313236.5	+	3	282	c.229T>A	c.(229-231)Tca>Aca	p.S77T	RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000359862.4_Missense_Mutation_p.S77T|TMEM25_ENST00000442938.2_Missense_Mutation_p.S77T|TMEM25_ENST00000411589.2_Missense_Mutation_p.S77T|TMEM25_ENST00000533102.1_Missense_Mutation_p.S77T|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.S77T|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000524725.1_Missense_Mutation_p.S77T|TMEM25_ENST00000544878.1_Missense_Mutation_p.S77T|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	77	Ig-like.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S77T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGCCAGCACCTCAAGACTGCT	0.642																																						uc010rye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)TCA>ACA		transmembrane protein 25 isoform 1							59.0	61.0	60.0					11																	118403023		2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118403023T>A	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.229T>A	11.37:g.118403023T>A	ENSP00000315635:p.Ser77Thr					TMEM25_uc010ryd.1_Missense_Mutation_p.S77T|TMEM25_uc001ptk.3_Missense_Mutation_p.S77T|TMEM25_uc001pth.2_Missense_Mutation_p.S77T|TMEM25_uc009zad.2_Missense_Mutation_p.S77T|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Missense_Mutation_p.S77T|TMEM25_uc001ptl.2_Missense_Mutation_p.S77T|TMEM25_uc001ptm.2_Missense_Mutation_p.S77T|TMEM25_uc001ptn.2_Missense_Mutation_p.S77T	p.S77T	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	403	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	77			Extracellular (Potential).|Ig-like.		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.229T>A	CCDS8398.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215982	0.79352	.	.	ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533137;ENST00000532762;ENST00000533102;ENST00000313236;ENST00000524725;ENST00000533689	T;T;T;T;T;T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.07	5.07	0.68467	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.082866	0.50627	D	0.000107	T	0.75860	0.3907	L	0.27053	0.805	0.25540	N	0.987183	P;D;P;D;P;D;D;B	0.60575	0.518;0.985;0.573;0.985;0.954;0.982;0.988;0.376	B;D;B;D;D;D;D;B	0.74348	0.226;0.977;0.23;0.977;0.943;0.961;0.983;0.071	T	0.66582	-0.5887	10	0.25106	T	0.35	-10.4094	12.2076	0.54361	0.0:0.0:0.0:1.0	.	77;77;77;77;77;77;77;77	F5H294;Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-2	.;TMM25_HUMAN;.;.;.;.;.;.	T	77;77;77;77;77;77;45;77;77;77;77;77	ENSP00000411882:S77T;ENSP00000416071:S77T;ENSP00000352924:S77T;ENSP00000432040:S77T;ENSP00000439408:S77T;ENSP00000346237:S77T;ENSP00000433938:S45T;ENSP00000433906:S77T;ENSP00000431548:S77T;ENSP00000315635:S77T;ENSP00000431205:S77T;ENSP00000436746:S77T	ENSP00000315635:S77T	S	+	1	0	TMEM25	117908233	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.548000	0.45794	1.904000	0.55121	0.459000	0.35465	TCA		PASS	0.642	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		27	83	27	83	---	---	---	---
POU2F3	25833	broad.mit.edu	37	11	120176496	120176496	+	Splice_Site	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:120176496T>A	ENST00000543440.2	+	8	919		c.e8+2		POU2F3_ENST00000260264.4_Splice_Site	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.?(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ATGATGCAGGTAGGCCTCGCA	0.562																																						uc001pxc.2																			1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e8+2		POU transcription factor							98.0	82.0	87.0					11																	120176496		2203	4299	6502	SO:0001630	splice_region_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120176496T>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.769+2T>A	11.37:g.120176496T>A						POU2F3_uc010rzk.1_Splice_Site_p.E211_splice|POU2F3_uc010rzl.1_Splice_Site_p.E187_splice|POU2F3_uc001pxe.1_Splice_Site_p.E42_splice	p.E257_splice	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	8	871	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)						A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Splice_Site	SNP	ENST00000543440.2	37	c.769_splice	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316624	0.81469	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9844	0.80138	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F3	119681706	1.000000	0.71417	0.979000	0.43373	0.912000	0.54170	8.040000	0.89188	2.179000	0.69175	0.459000	0.35465	.		PASS	0.562	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		Intron	9	101	9	101	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121023771	121023771	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:121023771C>A	ENST00000392793.1	+	13	4558	c.4287C>A	c.(4285-4287)tcC>tcA	p.S1429S	TECTA_ENST00000264037.2_Silent_p.S1429S			O75443	TECTA_HUMAN	tectorin alpha	1429					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.S1429S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTGCTACTCCGATGGCAAAT	0.572																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4285-4287)TCC>TCA		tectorin alpha precursor							28.0	28.0	28.0					11																	121023771		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121023771C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4287C>A	11.37:g.121023771C>A							p.S1429S	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	4287	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1429						Silent	SNP	ENST00000392793.1	37	c.4287C>A	CCDS8434.1																																																																																				PASS	0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		13	15	13	15	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777196	123777196	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:123777196C>G	ENST00000321355.2	+	1	88	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20E(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATTAACTGAACAAGCAGAGCT	0.418																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(58-60)CAA>GAA		olfactory receptor, family 8, subfamily D,							99.0	95.0	97.0					11																	123777196		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777196C>G	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.58C>G	11.37:g.123777196C>G	ENSP00000325381:p.Gln20Glu						p.Q20E	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	58	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	20			Extracellular (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.58C>G	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	6.255	0.415216	0.11870	.	.	ENSG00000181518	ENST00000321355	T	0.00424	7.45	5.58	2.34	0.29019	.	0.615147	0.13560	N	0.378849	T	0.00271	0.0008	L	0.41236	1.265	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43589	-0.9382	10	0.41790	T	0.15	.	3.234	0.06758	0.1209:0.4583:0.2603:0.1605	.	20	Q8NGM9	OR8D4_HUMAN	E	20	ENSP00000325381:Q20E	ENSP00000325381:Q20E	Q	+	1	0	OR8D4	123282406	0.000000	0.05858	0.079000	0.20413	0.618000	0.37518	0.689000	0.25437	0.649000	0.30751	0.655000	0.94253	CAA		PASS	0.418	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		79	186	79	186	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130284617	130284617	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:130284617C>A	ENST00000257359.6	-	5	2081	c.1375G>T	c.(1375-1377)Gat>Tat	p.D459Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	459	Disintegrin.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D459Y(1)|p.D488Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGCGGAAATCCGGCCCAAAG	0.672																																						uc001qgg.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1375-1377)GAT>TAT		ADAM metallopeptidase with thrombospondin type 1							47.0	53.0	51.0					11																	130284617		2040	4197	6237	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284617C>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1375G>T	11.37:g.130284617C>A	ENSP00000257359:p.Asp459Tyr					ADAMTS8_uc001qgf.2_5'Flank	p.D459Y	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1733	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	459			Disintegrin.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1375G>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846605	0.51164	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.59638	0.25	5.59	4.67	0.58626	.	0.370973	0.34156	N	0.004214	T	0.48995	0.1531	L	0.40543	1.245	0.42552	D	0.993119	P	0.48764	0.915	B	0.38683	0.279	T	0.54437	-0.8294	10	0.51188	T	0.08	.	16.4072	0.83684	0.0:0.8681:0.1319:0.0	.	459	Q9UP79	ATS8_HUMAN	Y	459;488	ENSP00000257359:D459Y	ENSP00000257359:D459Y	D	-	1	0	ADAMTS8	129789827	0.260000	0.24053	0.445000	0.26908	0.853000	0.48598	3.063000	0.49978	1.326000	0.45319	0.655000	0.94253	GAT		PASS	0.672	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		54	82	54	82	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133791226	133791226	+	Silent	SNP	G	G	A	rs376960993		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr11:133791226G>A	ENST00000321016.8	-	18	2624	c.2394C>T	c.(2392-2394)gaC>gaT	p.D798D	IGSF9B_ENST00000533871.2_Silent_p.D798D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	798					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D254D(1)|p.D798D(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCCTGGTCGTCGGAGGATT	0.642																																						uc001qgx.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2392-2394)GAC>GAT		immunoglobulin superfamily, member 9B		G		0,4088		0,0,2044	25.0	25.0	25.0		2394	-5.7	0.2	11		25	1,8379		0,1,4189	no	coding-synonymous	IGSF9B	NM_014987.1		0,1,6233	AA,AG,GG		0.0119,0.0,0.0080		798/1350	133791226	1,12467	2044	4190	6234	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133791226G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2394C>T	11.37:g.133791226G>A							p.D798D	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2625	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	798			Cytoplasmic (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2394C>T																																																																																					PASS	0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		15	20	15	20	---	---	---	---
GPR162	27239	broad.mit.edu	37	12	6933072	6933072	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:6933072G>A	ENST00000311268.3	+	2	795	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R3Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AGGATGGCTCGGGGCGGGGCG	0.677																																						uc001qqw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(7-9)CGG>CAG		G protein-coupled receptor 162 isoform 2							6.0	8.0	7.0					12																	6933072		2115	4197	6312	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933072G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.8G>A	12.37:g.6933072G>A	ENSP00000311528:p.Arg3Gln					GPR162_uc010sfn.1_Missense_Mutation_p.R3Q|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	p.R3Q	NM_019858	NP_062832	Q16538	GP162_HUMAN			2	543	+			3			Extracellular (Potential).		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.8G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669796	0.29693	.	.	ENSG00000250510	ENST00000311268	T	0.10668	2.85	4.74	1.83	0.25207	.	.	.	.	.	T	0.06826	0.0174	N	0.19112	0.55	0.80722	D	1	B;B	0.16166	0.016;0.007	B;B	0.09377	0.004;0.002	T	0.22695	-1.0209	9	0.87932	D	0	.	6.9615	0.24599	0.1503:0.2709:0.5787:0.0	.	3;3	B7Z3U3;Q16538	.;GP162_HUMAN	Q	3	ENSP00000311528:R3Q	ENSP00000311528:R3Q	R	+	2	0	GPR162	6803333	1.000000	0.71417	0.879000	0.34478	0.015000	0.08874	4.029000	0.57253	0.202000	0.20498	-0.304000	0.09214	CGG		PASS	0.677	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		7	5	7	5	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7459250	7459250	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:7459250C>T	ENST00000399422.4	+	2	371	c.323C>T	c.(322-324)cCc>cTc	p.P108L		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	108					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)	p.P108L(2)		endometrium(6)|kidney(1)|lung(14)	21						CTCACCAAGCCCTGTGGCCTG	0.562																																						uc001qsx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)CCC>CTC		acyl-CoA synthetase medium-chain family member 4							77.0	84.0	82.0					12																	7459250		2091	4250	6341	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7459250C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.323C>T	12.37:g.7459250C>T	ENSP00000382349:p.Pro108Leu						p.P108L	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			2	323	+			108					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.323C>T	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781648	0.49891	.	.	ENSG00000215009	ENST00000399422	T	0.38401	1.14	4.89	4.89	0.63831	AMP-dependent synthetase/ligase (1);	0.203523	0.23791	U	0.044537	T	0.13586	0.0329	N	0.00347	-1.61	0.42538	D	0.993064	B	0.20368	0.044	B	0.25759	0.063	T	0.24404	-1.0161	10	0.56958	D	0.05	-10.7783	15.9029	0.79397	0.0:1.0:0.0:0.0	.	108	P0C7M7	ACSM4_HUMAN	L	108	ENSP00000382349:P108L	ENSP00000382349:P108L	P	+	2	0	ACSM4	7350517	0.001000	0.12720	1.000000	0.80357	0.892000	0.51952	1.034000	0.30204	2.440000	0.82611	0.655000	0.94253	CCC		PASS	0.562	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		4	23	4	23	---	---	---	---
TAS2R19	259294	broad.mit.edu	37	12	11174518	11174518	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:11174518T>C	ENST00000390673.2	-	1	701	c.653A>G	c.(652-654)gAt>gGt	p.D218G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	218					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D218G(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGTGCTGGGATCTTGAGATCC	0.393																																						uc010shj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)GAT>GGT		taste receptor, type 2, member 19							158.0	155.0	156.0					12																	11174518		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174518T>C	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.653A>G	12.37:g.11174518T>C	ENSP00000375091:p.Asp218Gly					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.D218G	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	653	-			218			Cytoplasmic (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.653A>G	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488594	0.44249	.	.	ENSG00000212124	ENST00000390673	T	0.37411	1.2	2.69	2.69	0.31865	.	0.799771	0.10676	U	0.646906	T	0.64789	0.2630	H	0.96048	3.76	0.09310	N	1	P	0.46784	0.884	P	0.55011	0.766	T	0.56032	-0.8046	10	0.87932	D	0	.	8.8664	0.35289	0.0:0.0:0.0:1.0	.	218	P59542	T2R19_HUMAN	G	218	ENSP00000375091:D218G	ENSP00000375091:D218G	D	-	2	0	TAS2R19	11065785	0.109000	0.22037	0.015000	0.15790	0.101000	0.19017	1.262000	0.32992	1.242000	0.43836	0.333000	0.21579	GAT		PASS	0.393	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		121	327	121	327	---	---	---	---
ZCRB1	85437	broad.mit.edu	37	12	42706889	42706889	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:42706889C>T	ENST00000266529.3	-	8	817	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.E171K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	212					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E212K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AGTTCTTCCTCATCACTGAAA	0.333																																						uc001rmz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(634-636)GAG>AAG		zinc finger CCHC-type and RNA binding motif 1							120.0	105.0	110.0					12																	42706889		2203	4300	6503	SO:0001583	missense	85437				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr12:42706889C>T	BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	29620	protein-coding gene	gene with protein product	"""U11/U12 snRNP 31K"""	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.634G>A	12.37:g.42706889C>T	ENSP00000266529:p.Glu212Lys					PPHLN1_uc001rmy.2_Intron	p.E212K	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN		GBM - Glioblastoma multiforme(48;0.0689)	8	843	-	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)	212					Q6PJX0|Q96TA6	Missense_Mutation	SNP	ENST00000266529.3	37	c.634G>A	CCDS8740.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498111	0.96355	.	.	ENSG00000139168	ENST00000266529;ENST00000552673	T;T	0.63417	2.1;-0.04	5.48	5.48	0.80851	.	0.043623	0.85682	N	0.000000	T	0.80788	0.4690	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.83123	-0.0117	10	0.87932	D	0	-24.4841	19.3636	0.94453	0.0:1.0:0.0:0.0	.	212	Q8TBF4	ZCRB1_HUMAN	K	212;171	ENSP00000266529:E212K;ENSP00000446732:E171K	ENSP00000266529:E212K	E	-	1	0	ZCRB1	40993156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.001000	0.76297	2.573000	0.86826	0.655000	0.94253	GAG		PASS	0.333	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403813.1	NM_033114		10	66	10	66	---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53227899	53227899	+	Missense_Mutation	SNP	T	T	C	rs112108733	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:53227899T>C	ENST00000330553.5	-	1	180	c.146A>G	c.(145-147)cAc>cGc	p.H49R		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	49	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.H49R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGGCCACAGTGGGCCCCGCC	0.652													C|||	34	0.00678914	0.0257	0.0	5008	,	,		12290	0.0		0.0	False		,,,				2504	0.0					uc001sbb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(145-147)CAC>CGC		keratin 6L		C	ARG/HIS	68,4326		0,68,2129	23.0	29.0	27.0		146	3.1	0.9	12	dbSNP_132	27	5,8577		0,5,4286	yes	missense	KRT79	NM_175834.2	29	0,73,6415	CC,CT,TT		0.0583,1.5476,0.5626	benign	49/536	53227899	73,12903	2197	4291	6488	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227899T>C	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.146A>G	12.37:g.53227899T>C	ENSP00000328358:p.His49Arg						p.H49R	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	179	-			49			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.146A>G	CCDS8839.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	C	0.011	-1.692766	0.00731	0.015476	5.83E-4	ENSG00000185640	ENST00000330553	T	0.75050	-0.9	3.98	3.09	0.35607	.	0.290828	0.25227	N	0.032199	T	0.24736	0.0600	N	0.01352	-0.895	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.08179	T	0.78	.	9.5533	0.39324	0.0:0.8199:0.0:0.1801	.	49	Q5XKE5	K2C79_HUMAN	R	49	ENSP00000328358:H49R	ENSP00000328358:H49R	H	-	2	0	KRT79	51514166	0.000000	0.05858	0.949000	0.38748	0.022000	0.10575	-0.847000	0.04331	0.671000	0.31185	-0.119000	0.15052	CAC		PASS	0.652	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		3	25	3	25	---	---	---	---
SUOX	6821	broad.mit.edu	37	12	56398187	56398187	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:56398187G>C	ENST00000394109.3	+	3	1738	c.1014G>C	c.(1012-1014)cgG>cgC	p.R338R	SUOX_ENST00000394115.2_Silent_p.R338R|SUOX_ENST00000548274.1_Silent_p.R338R|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000266971.3_Silent_p.R338R|SUOX_ENST00000356124.4_Silent_p.R338R			P51687	SUOX_HUMAN	sulfite oxidase	338	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)	p.R338R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTCTGGCTCGGGCCATGGACC	0.602																																						uc001six.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1012-1014)CGG>CGC		sulfite oxidase precursor							54.0	48.0	50.0					12																	56398187		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56398187G>C	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1014G>C	12.37:g.56398187G>C						SUOX_uc001siy.2_Silent_p.R338R|SUOX_uc001siz.2_Silent_p.R338R|SUOX_uc001sja.2_Silent_p.R338R	p.R338R	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	1340	+			338			Molybdenum-pterin domain (By similarity).			Silent	SNP	ENST00000394109.3	37	c.1014G>C	CCDS8901.2																																																																																				PASS	0.602	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		14	61	14	61	---	---	---	---
LRRC10	376132	broad.mit.edu	37	12	70003884	70003884	+	Silent	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:70003884T>C	ENST00000361484.3	-	1	1058	c.735A>G	c.(733-735)ccA>ccG	p.P245P		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	245					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)		p.P245P(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGTCGGGCTCTGGCGTCTCCT	0.582																																						uc001svc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CCA>CCG		leucine rich repeat containing 10							98.0	81.0	87.0					12																	70003884		2203	4300	6503	SO:0001819	synonymous_variant	376132					nucleus		g.chr12:70003884T>C	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.735A>G	12.37:g.70003884T>C							p.P245P	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1059	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		245					Q6ZVY4	Silent	SNP	ENST00000361484.3	37	c.735A>G	CCDS31856.1																																																																																				PASS	0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		10	82	10	82	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70048965	70048965	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:70048965T>A	ENST00000330891.5	-	10	1955	c.1729A>T	c.(1729-1731)Aac>Tac	p.N577Y	BEST3_ENST00000553096.1_Missense_Mutation_p.N471Y|BEST3_ENST00000488961.1_Missense_Mutation_p.N364Y|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	577					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.N577Y(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTCACAGTTGAATATATTT	0.552																																						uc001svg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1729-1731)AAC>TAC		vitelliform macular dystrophy 2-like 3 isoform							45.0	44.0	44.0					12																	70048965		1844	4085	5929	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048965T>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1729A>T	12.37:g.70048965T>A	ENSP00000332413:p.Asn577Tyr					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.N364Y|BEST3_uc010stm.1_Missense_Mutation_p.N471Y	p.N577Y	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1956	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		577			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1729A>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893868	0.33442	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97850	-4.21;-4.57;-4.53	5.53	-6.36	0.01969	.	2.033700	0.01696	N	0.026935	D	0.91723	0.7383	N	0.08118	0	0.09310	N	1	B;B	0.26147	0.051;0.143	B;B	0.19946	0.027;0.024	D	0.86528	0.1820	10	0.56958	D	0.05	0.8133	7.4945	0.27481	0.0:0.2506:0.4231:0.3264	.	577;364	Q8N1M1;B5MDI8	BEST3_HUMAN;.	Y	364;577;471	ENSP00000433213:N364Y;ENSP00000332413:N577Y;ENSP00000449548:N471Y	ENSP00000332413:N577Y	N	-	1	0	BEST3	68335232	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.780000	0.04654	-0.640000	0.05495	0.460000	0.39030	AAC		PASS	0.552	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		40	83	40	83	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101723150	101723150	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:101723150G>A	ENST00000261637.4	+	27	3514	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1114					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A1114T(2)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCTGATCAGCGCATACCTGCC	0.403																																						uc001tia.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|breast(2)	4						c.(3340-3342)GCA>ACA		down-regulated in metastasis							139.0	126.0	131.0					12																	101723150		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101723150G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3340G>A	12.37:g.101723150G>A	ENSP00000261637:p.Ala1114Thr						p.A1114T	NM_014503	NP_055318	O75691	UTP20_HUMAN			27	3496	+			1114					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3340G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	4.956	0.177549	0.09443	.	.	ENSG00000120800	ENST00000261637	T	0.63744	-0.06	5.6	-0.198	0.13224	Armadillo-type fold (1);	1.117700	0.06388	N	0.716566	T	0.37265	0.0997	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19063	-1.0317	10	0.23891	T	0.37	-0.9069	9.9561	0.41668	0.1627:0.5931:0.2443:0.0	.	1114	O75691	UTP20_HUMAN	T	1114	ENSP00000261637:A1114T	ENSP00000261637:A1114T	A	+	1	0	UTP20	100247281	0.000000	0.05858	0.021000	0.16686	0.306000	0.27790	0.177000	0.16801	0.098000	0.17522	-0.195000	0.12781	GCA		PASS	0.403	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		5	198	5	198	---	---	---	---
SPIC	121599	broad.mit.edu	37	12	101873438	101873438	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:101873438C>G	ENST00000551346.1	+	4	335	c.176C>G	c.(175-177)aCa>aGa	p.T59R	SPIC_ENST00000299272.5_Missense_Mutation_p.T59R			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	59					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T59R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GTGTTGCCTACAGAGGAGCCT	0.388																																						uc001tid.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(175-177)ACA>AGA		Spi-C transcription factor (Spi-1/PU.1 related)							72.0	67.0	69.0					12																	101873438		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101873438C>G	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.176C>G	12.37:g.101873438C>G	ENSP00000448580:p.Thr59Arg					SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.T58R	p.T59R	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			4	335	+			59						Missense_Mutation	SNP	ENST00000551346.1	37	c.176C>G	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799988	0.31869	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.23348	1.91;1.91	5.02	4.13	0.48395	.	0.959289	0.08715	N	0.904363	T	0.25606	0.0623	L	0.46157	1.445	0.31307	N	0.687578	B	0.34103	0.437	B	0.35470	0.203	T	0.19095	-1.0316	10	0.30854	T	0.27	-15.3247	10.0017	0.41933	0.0:0.8386:0.0:0.1614	.	59	Q8N5J4	SPIC_HUMAN	R	59	ENSP00000448580:T59R;ENSP00000299272:T59R	ENSP00000299272:T59R	T	+	2	0	SPIC	100397569	0.805000	0.28982	0.609000	0.28983	0.763000	0.43281	1.736000	0.38187	1.120000	0.41904	0.555000	0.69702	ACA		PASS	0.388	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		30	79	30	79	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114823354	114823354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:114823354C>A	ENST00000310346.4	-	7	1348	c.682G>T	c.(682-684)Gag>Tag	p.E228*	TBX5_ENST00000526441.1_Nonsense_Mutation_p.E228*|TBX5_ENST00000349716.5_Nonsense_Mutation_p.E178*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E228*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	228					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E228*(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGATTATTCTCAATCTTTAAT	0.418																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(682-684)GAG>TAG		T-box 5 isoform 1							120.0	104.0	110.0					12																	114823354		2203	4300	6503	SO:0001587	stop_gained	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823354C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.682G>T	12.37:g.114823354C>A	ENSP00000309913:p.Glu228*					TBX5_uc001tvp.2_Nonsense_Mutation_p.E228*|TBX5_uc001tvq.2_Nonsense_Mutation_p.E178*|TBX5_uc010syv.1_Nonsense_Mutation_p.E228*	p.E228*	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1177	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		228			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.682G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	43	10.313567	0.99381	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.4167	0.94704	0.0:1.0:0.0:0.0	.	.	.	.	X	178;228;125;228;228	.	ENSP00000309913:E228X	E	-	1	0	TBX5	113307737	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	7.400000	0.79949	2.588000	0.87417	0.563000	0.77884	GAG		PASS	0.418	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		4	138	4	138	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114836513	114836513	+	Silent	SNP	G	G	A	rs142293206		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:114836513G>A	ENST00000310346.4	-	5	1041	c.375C>T	c.(373-375)ggC>ggT	p.G125G	TBX5_ENST00000526441.1_Silent_p.G125G|TBX5_ENST00000349716.5_Silent_p.G75G|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.G125G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	125					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G125G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCTCAGCTTTGCCCGTCACAG	0.622																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(373-375)GGC>GGT		T-box 5 isoform 1		G	,,,	0,4406		0,0,2203	39.0	34.0	36.0		375,225,375,375	2.1	1.0	12	dbSNP_134	36	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBX5	NM_000192.3,NM_080717.2,NM_080718.1,NM_181486.1	,,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,,	125/519,75/469,125/350,125/519	114836513	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836513G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.375C>T	12.37:g.114836513G>A						TBX5_uc001tvp.2_Silent_p.G125G|TBX5_uc001tvq.2_Silent_p.G75G|TBX5_uc010syv.1_Silent_p.G125G	p.G125G	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	870	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		125			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.375C>T	CCDS9173.1																																																																																				PASS	0.622	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		5	7	5	7	---	---	---	---
RNF10	9921	broad.mit.edu	37	12	120972765	120972765	+	Missense_Mutation	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:120972765A>C	ENST00000325954.4	+	1	612	c.151A>C	c.(151-153)Aag>Cag	p.K51Q	RNF10_ENST00000413266.2_Missense_Mutation_p.K51Q	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	51	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K51Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTAAACCCAAGAGCGGTAA	0.697																																						uc001typ.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(151-153)AAG>CAG		ring finger protein 10							10.0	14.0	13.0					12																	120972765		2155	4217	6372	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120972765A>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.151A>C	12.37:g.120972765A>C	ENSP00000322242:p.Lys51Gln					RNF10_uc010szk.1_RNA	p.K51Q	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			1	634	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		51			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.151A>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172365	0.78452	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266	D;D	0.90133	-2.62;-2.62	5.08	5.08	0.68730	.	0.169147	0.52532	D	0.000076	D	0.88100	0.6346	L	0.58428	1.81	0.58432	D	0.999998	P	0.34462	0.454	B	0.32864	0.154	D	0.86849	0.2022	10	0.34782	T	0.22	.	14.6822	0.69026	1.0:0.0:0.0:0.0	.	51	Q8N5U6	RNF10_HUMAN	Q	51	ENSP00000322242:K51Q;ENSP00000415682:K51Q	ENSP00000322242:K51Q	K	+	1	0	RNF10	119457148	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	5.484000	0.66844	2.136000	0.66102	0.459000	0.35465	AAG		PASS	0.697	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			3	6	3	6	---	---	---	---
SPPL3	121665	broad.mit.edu	37	12	121206828	121206828	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:121206828G>A	ENST00000353487.2	-	7	1040	c.537C>T	c.(535-537)gcC>gcT	p.A179A		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	180						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.A179A(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCGGACAAAGGCGATCATGG	0.567																																						uc001tzd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(535-537)GCC>GCT		signal peptide peptidase 3							43.0	40.0	41.0					12																	121206828		2203	4298	6501	SO:0001819	synonymous_variant	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121206828G>A		CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.537C>T	12.37:g.121206828G>A						SPPL3_uc009zwz.2_Silent_p.A179A|SPPL3_uc001tzc.2_Silent_p.A9A	p.A179A	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN			7	1018	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		180			Helical; (Potential).		Q3MJ04|Q8TAU4|Q96DD9	Silent	SNP	ENST00000353487.2	37	c.537C>T	CCDS9208.1																																																																																				PASS	0.567	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		4	9	4	9	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124968189	124968189	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:124968189G>A	ENST00000405201.1	-	3	364	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000356219.3_Missense_Mutation_p.P122S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P122S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P122S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P122S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	122					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.P122S(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCAGCAGGGGTGACGGTCGC	0.642																																						uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(364-366)CCC>TCC		nuclear receptor co-repressor 2 isoform 2							25.0	35.0	32.0					12																	124968189		1976	4149	6125	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124968189G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.364C>T	12.37:g.124968189G>A	ENSP00000384018:p.Pro122Ser					NCOR2_uc010tay.1_Missense_Mutation_p.P122S|NCOR2_uc010taz.1_Missense_Mutation_p.P122S|NCOR2_uc010tbb.1_Missense_Mutation_p.P122S|NCOR2_uc010tbc.1_Missense_Mutation_p.P122S|NCOR2_uc001ugj.1_Missense_Mutation_p.P122S|NCOR2_uc001ugk.1_Missense_Mutation_p.P122S|uc001ugl.2_5'Flank	p.P122S	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	3	481	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		122					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.364C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	5.583	0.292382	0.10567	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	T;T;T;T;T;T	0.33438	2.16;2.42;2.17;2.42;2.42;1.41	4.92	-0.642	0.11486	.	0.584148	0.16525	U	0.210623	T	0.29321	0.0730	M	0.62723	1.935	0.39861	D	0.973387	B;B;B	0.30634	0.19;0.19;0.288	B;B;B	0.26969	0.034;0.034;0.075	T	0.14117	-1.0484	10	0.38643	T	0.18	-7.6997	14.6466	0.68764	0.0:0.624:0.2657:0.1103	.	122;122;122	C9J0Q5;C9J239;C9JFD3	.;.;.	S	122;122;122;122;122;122;122;122;43	ENSP00000384018:P122S;ENSP00000384202:P122S;ENSP00000348551:P122S;ENSP00000380513:P122S;ENSP00000400281:P122S;ENSP00000402808:P122S	ENSP00000348551:P122S	P	-	1	0	NCOR2	123534142	0.248000	0.23930	0.003000	0.11579	0.365000	0.29674	0.557000	0.23454	-0.448000	0.07128	0.455000	0.32223	CCC		PASS	0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	12	3	12	---	---	---	---
BRI3BP	140707	broad.mit.edu	37	12	125509609	125509609	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:125509609G>C	ENST00000341446.8	+	3	480	c.389G>C	c.(388-390)gGc>gCc	p.G130A		NM_080626.5	NP_542193.3			BRI3 binding protein									p.G130A(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTGCTGGTCGGCGTCGTCCTC	0.637																																						uc001uha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(388-390)GGC>GCC		BRI3-binding protein							70.0	64.0	66.0					12																	125509609		2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509609G>C	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.389G>C	12.37:g.125509609G>C	ENSP00000340761:p.Gly130Ala						p.G130A	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	532	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		130			Helical; (Potential).			Missense_Mutation	SNP	ENST00000341446.8	37	c.389G>C	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	14.74	2.626253	0.46840	.	.	ENSG00000184992	ENST00000341446	.	.	.	5.37	5.37	0.77165	.	0.095910	0.64402	D	0.000001	T	0.34454	0.0898	L	0.28115	0.83	0.48901	D	0.999728	P	0.42827	0.791	B	0.34385	0.181	T	0.16482	-1.0401	9	0.14252	T	0.57	-7.6551	14.0097	0.64488	0.0:0.0:0.8488:0.1512	.	130	Q8WY22	BRI3B_HUMAN	A	130	.	ENSP00000340761:G130A	G	+	2	0	BRI3BP	124075562	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.489000	0.66875	2.495000	0.84180	0.556000	0.70494	GGC		PASS	0.637	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		32	51	32	51	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133250183	133250183	+	Missense_Mutation	SNP	C	C	T	rs151273553	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr12:133250183C>T	ENST00000320574.5	-	13	1380	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	POLE_ENST00000535270.1_Missense_Mutation_p.R419Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	446					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.R446Q(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGTGGCCATCCGGCACATGTC	0.642								DNA polymerases (catalytic subunits)																														uc001uks.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1336-1338)CGG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	101.0	103.0		1337	5.6	1.0	12	dbSNP_134	103	5,8595	4.3+/-15.6	0,5,4295	yes	missense	POLE	NM_006231.2	43	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging	446/2287	133250183	7,12999	2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133250183C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1337G>A	12.37:g.133250183C>T	ENSP00000322570:p.Arg446Gln					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R419Q	p.R446Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	13	1381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	446					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1337G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442740	0.83993	4.54E-4	5.81E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.43688	4.79;4.79;4.79;0.94	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.70016	0.967;0.902	T	0.73512	-0.3959	10	0.45353	T	0.12	.	19.656	0.95842	0.0:1.0:0.0:0.0	.	419;446	F5H1D6;Q07864	.;DPOE1_HUMAN	Q	446;457;419;226;381;64	ENSP00000322570:R446Q;ENSP00000406383:R457Q;ENSP00000445753:R419Q;ENSP00000442519:R226Q	ENSP00000322570:R446Q	R	-	2	0	POLE	131760256	1.000000	0.71417	0.982000	0.44146	0.183000	0.23260	7.717000	0.84732	2.660000	0.90430	0.305000	0.20034	CGG		PASS	0.642	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	174	4	174	---	---	---	---
MICU2	221154	broad.mit.edu	37	13	22140935	22140935	+	Splice_Site	SNP	C	C	G	rs370202488		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr13:22140935C>G	ENST00000382374.4	-	2	424		c.e2+1			NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2						mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.?(2)									ACCCAACTCACGTTCCATTTG	0.353																																						uc001uof.2																			2	Unknown(2)		lung(1)|endometrium(1)		0						c.e2+1		EF-hand domain family, member A1							51.0	50.0	50.0					13																	22140935		2201	4298	6499	SO:0001630	splice_region_variant	221154						calcium ion binding	g.chr13:22140935C>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.358+1G>C	13.37:g.22140935C>G							p.R120_splice	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	2	380	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)						Q8N0T6|Q8NAX8	Splice_Site	SNP	ENST00000382374.4	37	c.358_splice	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052126	0.55218	.	.	ENSG00000165487	ENST00000382374	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5566	0.87892	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFHA1	21038935	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	5.004000	0.63966	2.416000	0.81992	0.650000	0.86243	.		PASS	0.353	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	Intron	6	14	6	14	---	---	---	---
COG6	57511	broad.mit.edu	37	13	40263924	40263924	+	Missense_Mutation	SNP	T	T	A	rs377729545		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr13:40263924T>A	ENST00000455146.3	+	11	1087	c.1037T>A	c.(1036-1038)gTt>gAt	p.V346D	COG6_ENST00000416691.1_Missense_Mutation_p.V346D	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	346					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.V346D(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CAAGAAGTTGTTGGGCATATC	0.274																																						uc001uxh.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(1036-1038)GTT>GAT		component of oligomeric golgi complex 6 isoform							78.0	76.0	77.0					13																	40263924		2202	4292	6494	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40263924T>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1037T>A	13.37:g.40263924T>A	ENSP00000397441:p.Val346Asp					COG6_uc001uxi.2_Missense_Mutation_p.V294D|COG6_uc010acb.2_Missense_Mutation_p.V346D	p.V346D	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	11	1137	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	346					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.1037T>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202000	0.79127	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.61980	0.06;0.06	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.65498	2.005	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.66196	0.942;0.877	T	0.78917	-0.2015	10	0.87932	D	0	-20.2589	14.0369	0.64651	0.0:0.0:0.0:1.0	.	367;346	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	D	346;377;346	ENSP00000403733:V346D;ENSP00000397441:V346D	ENSP00000255468:V377D	V	+	2	0	COG6	39161924	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.265000	0.78442	1.906000	0.55180	0.533000	0.62120	GTT		PASS	0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			20	24	20	24	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49030426	49030426	+	Nonsense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr13:49030426C>G	ENST00000267163.4	+	19	2039	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	634	Pocket; binds T and E1A.|Spacer.				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.?(10)|p.S634*(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)"""	CAAGCAACCTCAGCCTTCCAG	0.368		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		28	Whole gene deletion(15)|Unknown(10)|Substitution - Nonsense(3)	p.?(6)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(3)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|liver(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	GRCh37	CM961233	RB1	M		c.(1900-1902)TCA>TGA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						87.0	84.0	85.0					13																	49030426		2203	4300	6503	SO:0001587	stop_gained	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.chr13:49030426C>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1901C>G	13.37:g.49030426C>G	ENSP00000267163:p.Ser634*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S634*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2067	+		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)	634			Pocket; binds T and E1A.|Spacer.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1901C>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	37	6.289460	0.97444	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	5.97	0.96955	.	0.352176	0.27008	N	0.021389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	11.3407	0.49531	0.0:0.8768:0.0:0.1232	.	.	.	.	X	613;634	.	ENSP00000267163:S634X	S	+	2	0	RB1	47928427	0.325000	0.24660	1.000000	0.80357	0.999000	0.98932	1.693000	0.37742	2.820000	0.97059	0.655000	0.94253	TCA		PASS	0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			19	24	19	24	---	---	---	---
F10	2159	broad.mit.edu	37	13	113798324	113798324	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr13:113798324A>G	ENST00000375559.3	+	6	700	c.662A>G	c.(661-663)aAc>aGc	p.N221S	F10_ENST00000375551.3_Missense_Mutation_p.N221S|F10_ENST00000409306.1_Missense_Mutation_p.N221S	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	221					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.N221S(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CTTGACTTCAACCAGACGCAG	0.607																																						uc001vsx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(661-663)AAC>AGC		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						151.0	119.0	130.0					13																	113798324		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113798324A>G		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.662A>G	13.37:g.113798324A>G	ENSP00000364709:p.Asn221Ser					F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.N221S|F10_uc001vsz.2_Missense_Mutation_p.N221S	p.N221S	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		6	719	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	221					Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.662A>G	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.596374	0.28445	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95554	-3.71;-3.74;-2.88	5.12	3.95	0.45737	.	0.357795	0.30410	N	0.009692	D	0.95689	0.8598	L	0.58810	1.83	0.09310	N	1	D;D;B	0.67145	0.996;0.996;0.048	P;P;B	0.58331	0.837;0.837;0.03	D	0.90231	0.4279	10	0.59425	D	0.04	.	9.608	0.39645	0.8041:0.1959:0.0:0.0	.	221;221;221	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	S	221	ENSP00000387092:N221S;ENSP00000364701:N221S;ENSP00000364709:N221S	ENSP00000364701:N221S	N	+	2	0	F10	112846325	0.000000	0.05858	0.009000	0.14445	0.214000	0.24535	0.700000	0.25601	0.792000	0.33850	0.402000	0.26972	AAC		PASS	0.607	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			47	70	47	70	---	---	---	---
OR11H12	440153	broad.mit.edu	37	14	19378028	19378028	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:19378028G>A	ENST00000550708.1	+	1	507	c.435G>A	c.(433-435)ttG>ttA	p.L145L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L145L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCGTCCCTTGCTCTATCCTA	0.443																																						uc010tkp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(433-435)TTG>TTA		olfactory receptor, family 11, subfamily H,							70.0	72.0	72.0					14																	19378028		2201	4293	6494	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378028G>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.435G>A	14.37:g.19378028G>A							p.L145L	NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	435	+	all_cancers(95;0.00108)		145			Cytoplasmic (Potential).			Silent	SNP	ENST00000550708.1	37	c.435G>A	CCDS32017.1																																																																																				PASS	0.443	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		5	306	5	306	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20215938	20215938	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:20215938G>T	ENST00000331723.1	+	1	352	c.352G>T	c.(352-354)Gtc>Ttc	p.V118F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V118F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGCTGACAGTCATGGCCTA	0.502																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(352-354)GTC>TTC		olfactory receptor, family 4, subfamily Q,							92.0	93.0	93.0					14																	20215938		2203	4299	6502	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215938G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.352G>T	14.37:g.20215938G>T	ENSP00000330049:p.Val118Phe						p.V118F	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	352	+	all_cancers(95;0.00108)		118			Helical; Name=3; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.352G>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	16.91	3.251525	0.59212	.	.	ENSG00000182652	ENST00000331723	T	0.05855	3.38	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.208212	0.23167	U	0.051171	T	0.12008	0.0292	M	0.79475	2.455	0.34045	D	0.655443	P	0.35139	0.486	B	0.34346	0.18	T	0.11916	-1.0568	10	0.87932	D	0	.	14.6935	0.69103	0.0:0.0:1.0:0.0	.	118	Q8NH05	OR4Q3_HUMAN	F	118	ENSP00000330049:V118F	ENSP00000330049:V118F	V	+	1	0	OR4Q3	19285778	0.000000	0.05858	0.997000	0.53966	0.986000	0.74619	0.664000	0.25068	2.322000	0.78497	0.509000	0.49947	GTC		PASS	0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			93	70	93	70	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23873974	23873974	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:23873974G>T	ENST00000356287.3	-	6	617	c.588C>A	c.(586-588)gcC>gcA	p.A196A	MYH6_ENST00000405093.3_Silent_p.A196A			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	196	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.A196A(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCAATGCTGGCAAAGTACT	0.577																																						uc001wjv.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(586-588)GCC>GCA		myosin heavy chain 6							132.0	112.0	119.0					14																	23873974		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23873974G>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.588C>A	14.37:g.23873974G>T						MYH6_uc010akp.1_Silent_p.A196A	p.A196A	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	7	655	-	all_cancers(95;2.54e-05)		196			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.588C>A	CCDS9600.1																																																																																				PASS	0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			46	35	46	35	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72985064	72985064	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:72985064G>T	ENST00000553530.1	+	15	1304	c.1097G>T	c.(1096-1098)tGg>tTg	p.W366L	RGS6_ENST00000553525.1_Missense_Mutation_p.W366L|RGS6_ENST00000554782.1_Missense_Mutation_p.W227L|RGS6_ENST00000555571.1_Missense_Mutation_p.W366L|RGS6_ENST00000556437.1_Missense_Mutation_p.W366L|RGS6_ENST00000406236.4_Missense_Mutation_p.W366L|RGS6_ENST00000355512.6_Missense_Mutation_p.W366L|RGS6_ENST00000434263.2_Missense_Mutation_p.W297L|RGS6_ENST00000407322.4_Missense_Mutation_p.W366L|RGS6_ENST00000402788.2_Missense_Mutation_p.W366L|RGS6_ENST00000343854.6_Missense_Mutation_p.W329L|RGS6_ENST00000404301.2_Missense_Mutation_p.W366L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	366	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.W366L(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCAGGTTCTGGCTGGCTGTC	0.537																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(1096-1098)TGG>TTG		regulator of G-protein signalling 6							67.0	66.0	66.0					14																	72985064		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72985064G>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1097G>T	14.37:g.72985064G>T	ENSP00000452331:p.Trp366Leu					RGS6_uc010ttn.1_Missense_Mutation_p.W366L|RGS6_uc001xmx.3_Missense_Mutation_p.W366L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W366L|RGS6_uc010ttp.1_Missense_Mutation_p.W297L|RGS6_uc001xmz.1_Missense_Mutation_p.W227L	p.W366L	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	15	1620	+			366			RGS.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.1097G>T	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977062	0.92982	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.41	5.41	0.78517	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;0.991;1.0	D;D;P;D	0.77004	0.958;0.981;0.904;0.989	T	0.78532	-0.2168	10	0.87932	D	0	-6.722	18.5543	0.91077	0.0:0.0:1.0:0.0	.	297;366;371;366	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	L	366;366;366;366;366;366;366;366;366;329;338;297;227;227	ENSP00000451030:W366L;ENSP00000450936:W366L;ENSP00000452331:W366L;ENSP00000451855:W366L;ENSP00000347699:W366L;ENSP00000385243:W366L;ENSP00000384218:W366L;ENSP00000384612:W366L;ENSP00000383953:W366L;ENSP00000341199:W329L;ENSP00000412144:W297L;ENSP00000451912:W227L	ENSP00000341199:W329L	W	+	2	0	RGS6	72054817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.669000	0.98622	2.704000	0.92352	0.561000	0.74099	TGG		PASS	0.537	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			44	61	44	61	---	---	---	---
FAM161B	145483	broad.mit.edu	37	14	74413274	74413274	+	Missense_Mutation	SNP	G	G	T	rs541795517	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:74413274G>T	ENST00000534936.1	-	2	194	c.89C>A	c.(88-90)gCa>gAa	p.A30E	FAM161B_ENST00000286544.3_Missense_Mutation_p.A93E			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	30								p.A30E(1)|p.A93E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CTCCTCTCCTGCCTCTGTGTC	0.468																																						uc001xpd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(88-90)GCA>GAA		hypothetical protein LOC145483							79.0	82.0	81.0					14																	74413274		2203	4299	6502	SO:0001583	missense	145483							g.chr14:74413274G>T	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.89C>A	14.37:g.74413274G>T	ENSP00000445326:p.Ala30Glu						p.A30E	NM_152445	NP_689658					2	195	-								B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37	c.89C>A		.	.	.	.	.	.	.	.	.	.	G	15.87	2.961098	0.53400	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.27720	1.65;1.65	5.1	4.2	0.49525	.	0.625079	0.15100	N	0.280574	T	0.24005	0.0581	L	0.38175	1.15	0.22389	N	0.999143	P	0.34462	0.454	B	0.32677	0.15	T	0.12785	-1.0534	10	0.48119	T	0.1	0.2853	9.7446	0.40440	0.0944:0.0:0.9056:0.0	.	30	Q96MY7	F161B_HUMAN	E	93;30	ENSP00000286544:A93E;ENSP00000445326:A30E	ENSP00000286544:A93E	A	-	2	0	FAM161B	73483027	0.119000	0.22226	0.913000	0.36048	0.811000	0.45836	1.182000	0.32029	1.345000	0.45676	0.561000	0.74099	GCA		PASS	0.468	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		148	111	148	111	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74825298	74825298	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:74825298C>T	ENST00000256362.4	+	2	2053	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	604					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.S604S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAGGGCCTTCCAGAGAGGGGG	0.662																																						uc001xpw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1810-1812)TCC>TCT		hypothetical protein LOC55237							24.0	31.0	28.0					14																	74825298		2198	4296	6494	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825298C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1812C>T	14.37:g.74825298C>T							p.S604S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	2003	+			604					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1812C>T	CCDS9830.1																																																																																				PASS	0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		47	28	47	28	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75516158	75516158	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:75516158C>G	ENST00000556740.1	-	1	236	c.201G>C	c.(199-201)gaG>gaC	p.E67D	MLH3_ENST00000238662.7_Missense_Mutation_p.E67D|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.E67D|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.E67D|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	67					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.E67D(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)		TTCCCACTTTCTCTACATCAT	0.438								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(199-201)GAG>GAC	MMR	mutL homolog 3 isoform 1							115.0	102.0	106.0					14																	75516158		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.chr14:75516158C>G	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.201G>C	14.37:g.75516158C>G	ENSP00000452316:p.Glu67Asp					MLH3_uc001xre.1_Missense_Mutation_p.E67D|MLH3_uc010tuy.1_RNA	p.E67D	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	417	-			67					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.201G>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408987	0.11812	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000553263;ENST00000557648	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	5.52	2.55	0.30701	ATPase-like, ATP-binding domain (4);	0.721078	0.13825	N	0.360154	T	0.42291	0.1196	L	0.43554	1.36	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.001;0.006	T	0.18808	-1.0325	10	0.09843	T	0.71	-2.3627	13.292	0.60276	0.0721:0.4374:0.4905:0.0	.	67;67	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	D	67	ENSP00000348020:E67D;ENSP00000238662:E67D;ENSP00000451540:E67D;ENSP00000452316:E67D;ENSP00000451192:E67D;ENSP00000451095:E67D	ENSP00000238662:E67D	E	-	3	2	MLH3	74585911	0.917000	0.31117	1.000000	0.80357	0.962000	0.63368	1.005000	0.29834	0.665000	0.31066	-0.147000	0.13772	GAG		PASS	0.438	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		5	222	5	222	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89878560	89878560	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:89878560G>T	ENST00000345097.4	-	2	377	c.261C>A	c.(259-261)gtC>gtA	p.V87V	RP11-33N16.3_ENST00000555070.1_RNA|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000557258.1_Silent_p.V87V|FOXN3_ENST00000555353.1_Silent_p.V87V|FOXN3_ENST00000261302.5_Silent_p.V87V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	87					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V87V(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGTCCTGGACGGGGCTGA	0.592																																						uc001xxo.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(259-261)GTC>GTA		checkpoint suppressor 1 isoform 1							64.0	58.0	60.0					14																	89878560		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89878560G>T		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.261C>A	14.37:g.89878560G>T						FOXN3_uc001xxn.3_Silent_p.V87V|FOXN3_uc010atk.2_Silent_p.V87V|FOXN3_uc001xxp.2_Silent_p.V87V	p.V87V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN			2	398	-			87					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.261C>A	CCDS41977.1																																																																																				PASS	0.592	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		49	89	49	89	---	---	---	---
SLC24A4	123041	broad.mit.edu	37	14	92900300	92900300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:92900300C>T	ENST00000532405.1	+	3	512	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SLC24A4_ENST00000351924.5_Nonsense_Mutation_p.Q79*|SLC24A4_ENST00000393265.2_Nonsense_Mutation_p.Q32*|SLC24A4_ENST00000298877.1_Nonsense_Mutation_p.Q79*|SLC24A4_ENST00000531433.1_Nonsense_Mutation_p.Q96*			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	96					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.Q79*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TAAGGAGCGACAGCACGGAGC	0.542																																					NSCLC(10;315 435 10383 28450 38798)	uc001yak.2																			1	Substitution - Nonsense(1)		lung(1)	breast(2)|ovary(1)	3						c.(235-237)CAG>TAG		solute carrier family 24 member 4 isoform 1							189.0	153.0	165.0					14																	92900300		2203	4300	6503	SO:0001587	stop_gained	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92900300C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.286C>T	14.37:g.92900300C>T	ENSP00000431840:p.Gln96*					SLC24A4_uc001yai.2_Nonsense_Mutation_p.Q32*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.Q96*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.Q79*	p.Q79*	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	3	259	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	96			Extracellular (Potential).		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Nonsense_Mutation	SNP	ENST00000532405.1	37	c.235C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	36	5.669136	0.96754	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924	.	.	.	4.99	4.99	0.66335	.	0.169012	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	17.0552	0.86532	0.0:1.0:0.0:0.0	.	.	.	.	X	32;96;96;79;79	.	ENSP00000298877:Q79X	Q	+	1	0	SLC24A4	91970053	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	3.671000	0.54576	2.329000	0.79093	0.561000	0.74099	CAG		PASS	0.542	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		11	125	11	125	---	---	---	---
C14orf177	283598	broad.mit.edu	37	14	99183497	99183497	+	Silent	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:99183497T>A	ENST00000325812.2	+	4	683	c.264T>A	c.(262-264)tcT>tcA	p.S88S		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	88								p.S88S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGAAACTTCTCCAGGGTCAT	0.438																																						uc001yfz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)TCT>TCA		hypothetical protein LOC283598							127.0	106.0	113.0					14																	99183497		2203	4300	6503	SO:0001819	synonymous_variant	283598							g.chr14:99183497T>A	AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.264T>A	14.37:g.99183497T>A							p.S88S	NM_182560	NP_872366	Q52M58	CN177_HUMAN			4	683	+		Melanoma(154;0.128)	88					Q8N7D2	Silent	SNP	ENST00000325812.2	37	c.264T>A	CCDS9948.1																																																																																				PASS	0.438	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396078.1	NM_182560		96	82	96	82	---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100188385	100188385	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:100188385C>T	ENST00000261835.3	+	12	1262	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	CYP46A1_ENST00000423126.2_Silent_p.P289P|CYP46A1_ENST00000554176.1_Intron	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	386					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.P386P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGAGTCCCCGGCAACACCC	0.627																																						uc001ygo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1156-1158)CCC>CCT		cytochrome P450, family 46							48.0	49.0	48.0					14																	100188385		2203	4300	6503	SO:0001819	synonymous_variant	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100188385C>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1158C>T	14.37:g.100188385C>T						CYP46A1_uc001ygp.2_Intron	p.P386P	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			12	1158	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	386					B4DHP8|E7EQG9|Q8N2B0	Silent	SNP	ENST00000261835.3	37	c.1158C>T	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	C	5.654	0.305269	0.10678	.	.	ENSG00000036530	ENST00000380228	.	.	.	4.45	-5.56	0.02529	.	.	.	.	.	T	0.37865	0.1019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35101	-0.9802	4	.	.	.	.	2.6579	0.05017	0.1206:0.2766:0.119:0.4838	.	.	.	.	W	373	.	.	R	+	1	2	CYP46A1	99258138	0.000000	0.05858	0.778000	0.31720	0.610000	0.37248	-4.679000	0.00199	-1.473000	0.01881	-0.373000	0.07131	CGG		PASS	0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			5	106	5	106	---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103412890	103412890	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:103412890C>A	ENST00000361246.2	-	28	3951	c.3663G>T	c.(3661-3663)ctG>ctT	p.L1221L		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.L1221L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTGATTCCTCAGCCGGTTTT	0.517																																						uc001ymi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3661-3663)CTG>CTT		CDC42-binding protein kinase beta							114.0	93.0	100.0					14																	103412890		2201	4294	6495	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103412890C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3663G>T	14.37:g.103412890C>A						CDC42BPB_uc001ymj.1_Silent_p.L323L	p.L1221L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	28	3895	-		Melanoma(154;0.155)	1221						Silent	SNP	ENST00000361246.2	37	c.3663G>T	CCDS9978.1																																																																																				PASS	0.517	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		17	117	17	117	---	---	---	---
IGHV1-45	28466	broad.mit.edu	37	14	106963323	106963323	+	RNA	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr14:106963323G>C	ENST00000390621.2	-	0	101									immunoglobulin heavy variable 1-45																		CCCCTTACCTGTGGCTGCTGC	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							68.0	69.0	68.0					14																	106963323		1874	4107	5981			8755							g.chr14:106963323G>C	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963323G>C														206		-									RNA	SNP	ENST00000390621.2	37	c.9457C>G																																																																																					PASS	0.557	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		9	61	9	61	---	---	---	---
CYFIP1	23191	broad.mit.edu	37	15	22999410	22999410	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr15:22999410G>C	ENST00000313077.7	+	29	3407	c.3282G>C	c.(3280-3282)gaG>gaC	p.E1094D	CYFIP1_ENST00000435939.2_Missense_Mutation_p.E663D|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1094D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.E663D(1)|p.E1094D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCATGTTTGAGGTCATCCTGA	0.592																																						uc001yus.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(3280-3282)GAG>GAC		cytoplasmic FMR1 interacting protein 1 isoform							65.0	65.0	65.0					15																	22999410		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22999410G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3282G>C	15.37:g.22999410G>C	ENSP00000324549:p.Glu1094Asp					CYFIP1_uc001yut.2_Missense_Mutation_p.E1094D|CYFIP1_uc001yuu.2_Missense_Mutation_p.E663D|CYFIP1_uc001yuv.2_Missense_Mutation_p.E288D	p.E1094D	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	29	3386	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1094						Missense_Mutation	SNP	ENST00000313077.7	37	c.3282G>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053142	0.55218	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.25085	1.82;1.82	5.68	-6.93	0.01638	.	0.000000	0.64402	D	0.000002	T	0.43919	0.1269	M	0.78049	2.395	0.80722	D	1	P;D	0.60575	0.934;0.988	P;P	0.60886	0.759;0.88	T	0.60964	-0.7158	10	0.48119	T	0.1	-30.3799	20.1168	0.97939	0.2678:0.0:0.7322:0.0	.	663;1094	Q7L576-2;Q7L576	.;CYFP1_HUMAN	D	1094;1096;663	ENSP00000324549:E1094D;ENSP00000405956:E663D	ENSP00000324549:E1094D	E	+	3	2	CYFIP1	20550851	0.996000	0.38824	0.593000	0.28771	0.238000	0.25445	0.318000	0.19504	-1.331000	0.02252	-0.302000	0.09304	GAG		PASS	0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		5	74	5	74	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811738	23811738	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr15:23811738G>T	ENST00000314520.3	+	1	1285	c.809G>T	c.(808-810)gGg>gTg	p.G270V	MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	270	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G270V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACATGTGTGGGCTGCAGACC	0.527																																						uc001ywh.3																			2	Substitution - Missense(2)		lung(2)	lung(6)|large_intestine(2)|ovary(2)	10						c.(808-810)GGG>GTG		makorin ring finger protein 3							103.0	104.0	104.0					15																	23811738		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811738G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.809G>T	15.37:g.23811738G>T	ENSP00000313881:p.Gly270Val					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G270V	p.G270V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1285	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	270			Makorin-type Cys-His.			Missense_Mutation	SNP	ENST00000314520.3	37	c.809G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961918	0.53400	.	.	ENSG00000179455	ENST00000314520	T	0.48836	0.8	4.07	4.07	0.47477	.	0.053120	0.85682	D	0.000000	T	0.73521	0.3597	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.79732	-0.1680	10	0.62326	D	0.03	.	14.5895	0.68354	0.0:0.0:1.0:0.0	.	270	Q13064	MKRN3_HUMAN	V	270	ENSP00000313881:G270V	ENSP00000313881:G270V	G	+	2	0	MKRN3	21362831	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	8.986000	0.93492	2.567000	0.86603	0.655000	0.94253	GGG		PASS	0.527	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		36	44	36	44	---	---	---	---
IVD	3712	broad.mit.edu	37	15	40702942	40702942	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr15:40702942C>T	ENST00000249760.2	+	4	745	c.402C>T	c.(400-402)atC>atT	p.I134I	IVD_ENST00000479013.2_Silent_p.I107I|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Silent_p.I137I	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	134					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.I134I(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	ACCTCTGCATCAACCAGCTTG	0.542																																					GBM(31;293 617 7486 32527 34655)	uc001zls.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(409-411)ATC>ATT		isovaleryl Coenzyme A dehydrogenase isoform 1							73.0	60.0	64.0					15																	40702942		2203	4300	6503	SO:0001819	synonymous_variant	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40702942C>T	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.402C>T	15.37:g.40702942C>T						IVD_uc001zlq.2_Silent_p.I107I	p.I137I	NM_002225	NP_002216	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	4	745	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	134					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Silent	SNP	ENST00000249760.2	37	c.411C>T		.	.	.	.	.	.	.	.	.	.	C	9.809	1.182572	0.21870	.	.	ENSG00000128928	ENST00000473112	.	.	.	5.17	4.25	0.50352	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60845	-0.7182	4	.	.	.	.	11.1012	0.48174	0.0:0.8514:0.0:0.1486	.	.	.	.	L	54	.	.	S	+	2	0	IVD	38490234	1.000000	0.71417	0.989000	0.46669	0.870000	0.49936	1.415000	0.34748	1.412000	0.46977	0.655000	0.94253	TCA		PASS	0.542	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				37	29	37	29	---	---	---	---
SCG3	29106	broad.mit.edu	37	15	51984508	51984508	+	Silent	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr15:51984508T>C	ENST00000220478.3	+	7	1246	c.843T>C	c.(841-843)taT>taC	p.Y281Y	SCG3_ENST00000542355.2_Silent_p.Y49Y|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	281					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.Y281Y(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CAAATTTCTATGCGCTACTGA	0.378																																						uc002abh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(841-843)TAT>TAC		secretogranin III isoform 1 precursor							94.0	98.0	97.0					15																	51984508		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51984508T>C	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.843T>C	15.37:g.51984508T>C						SCG3_uc010ufz.1_Silent_p.Y49Y	p.Y281Y	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	7	1251	+			281					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.843T>C	CCDS10142.1																																																																																				PASS	0.378	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		75	88	75	88	---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66223281	66223281	+	Splice_Site	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr15:66223281C>T	ENST00000409699.2	-	11	1460	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Splice_Site_p.G430R|MEGF11_ENST00000288745.3_Splice_Site_p.G355R|MEGF11_ENST00000422354.1_Splice_Site_p.G430R|MEGF11_ENST00000395625.2_Splice_Site_p.G355R			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	430	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G430R(2)|p.G355R(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGACCTCTCCCTGGAAAGGG	0.557																																						uc002apm.2																			4	Substitution - Missense(4)		lung(4)	pancreas(1)	1						c.(1288-1290)GGA>AGA		multiple EGF-like-domains 11 precursor							54.0	40.0	45.0					15																	66223281		2201	4299	6500	SO:0001630	splice_region_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66223281C>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1288-1G>A	15.37:g.66223281C>T						MEGF11_uc002apl.2_Missense_Mutation_p.G355R|MEGF11_uc002apn.1_Missense_Mutation_p.G430R	p.G430R	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			11	1429	-			430			EGF-like 7.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.1288G>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965504	0.74131	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.13	5.13	0.70059	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.41294	U	0.000905	D	0.92485	0.7614	H	0.99924	4.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.96400	0.9296	10	0.87932	D	0	.	18.6026	0.91255	0.0:1.0:0.0:0.0	.	430;355	A6BM72;A6BM72-2	MEG11_HUMAN;.	R	430;355;430;355;430;134	ENSP00000386908:G430R;ENSP00000288745:G355R;ENSP00000414475:G430R;ENSP00000378987:G355R;ENSP00000353919:G430R;ENSP00000401400:G134R	ENSP00000288745:G355R	G	-	1	0	MEGF11	64010335	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	5.613000	0.67688	2.378000	0.81104	0.561000	0.74099	GGA		PASS	0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	Missense_Mutation	16	18	16	18	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	825561	825561	+	Intron	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:825561C>A	ENST00000442466.1	-	4	279				MSLNL_ENST00000293892.3_Missense_Mutation_p.R400S			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R400S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCGTGGGCGCCCTTCCCCTCT	0.716																																						uc002cjz.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1198-1200)AGG>AGT		mesothelin-like							24.0	33.0	30.0					16																	825561		2054	4182	6236	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:825561C>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.280-58G>T	16.37:g.825561C>A							p.R400S	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			5	1200	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000442466.1	37	c.1200G>T		.	.	.	.	.	.	.	.	.	.	C	8.993	0.978099	0.18812	.	.	ENSG00000162006	ENST00000293892	T	0.18338	2.22	1.71	1.71	0.24356	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27191	-1.0081	5	.	.	.	.	6.899	0.24273	0.0:1.0:0.0:0.0	.	.	.	.	S	400	ENSP00000293892:R400S	.	R	-	3	2	MSLNL	765562	0.006000	0.16342	0.002000	0.10522	0.003000	0.03518	1.067000	0.30616	1.302000	0.44855	0.478000	0.44815	AGG		PASS	0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		9	14	9	14	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16170234	16170234	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:16170234G>T	ENST00000399410.3	+	15	2139	c.1964G>T	c.(1963-1965)aGg>aTg	p.R655M	ABCC1_ENST00000351154.5_Missense_Mutation_p.R655M|ABCC1_ENST00000399408.2_Missense_Mutation_p.R655M|ABCC1_ENST00000345148.5_Missense_Mutation_p.R655M|ABCC1_ENST00000346370.5_Missense_Mutation_p.R655M|ABCC1_ENST00000349029.5_Missense_Mutation_p.R655M	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	655	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R655M(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ACCTGGGCCAGGAGCGACCCT	0.577																																						uc010bvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1963-1965)AGG>ATG		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						71.0	79.0	77.0					16																	16170234		2139	4239	6378	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16170234G>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1964G>T	16.37:g.16170234G>T	ENSP00000382342:p.Arg655Met					ABCC1_uc010bvj.2_Missense_Mutation_p.R655M|ABCC1_uc010bvk.2_Missense_Mutation_p.R655M|ABCC1_uc010bvl.2_Missense_Mutation_p.R655M|ABCC1_uc010bvm.2_Missense_Mutation_p.R655M|ABCC1_uc002del.3_Missense_Mutation_p.R539M	p.R655M	NM_004996	NP_004987	P33527	MRP1_HUMAN			15	2139	+			655			ABC transporter 1.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1964G>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888216	0.52014	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.06	4.11	0.48088	ABC transporter-like (1);	0.358527	0.33005	N	0.005381	T	0.37019	0.0988	L	0.39397	1.21	0.21220	N	0.999751	D;P;D;D;P;D	0.65815	0.986;0.913;0.959;0.989;0.932;0.995	P;P;P;P;P;P	0.59288	0.855;0.611;0.706;0.804;0.511;0.768	T	0.10109	-1.0644	10	0.48119	T	0.1	-24.77	7.6453	0.28316	0.1923:0.0:0.8077:0.0	.	655;655;655;655;655;655	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	M	655;655;655;655;655;655;329	ENSP00000382342:R655M;ENSP00000382340:R655M;ENSP00000263019:R655M;ENSP00000263017:R655M;ENSP00000263014:R655M;ENSP00000263016:R655M	ENSP00000263014:R655M	R	+	2	0	ABCC1	16077735	0.993000	0.37304	0.678000	0.29963	0.619000	0.37552	2.462000	0.45049	1.135000	0.42183	0.462000	0.41574	AGG		PASS	0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		14	37	14	37	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20702439	20702439	+	Silent	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:20702439A>T	ENST00000307493.4	-	1	139	c.72T>A	c.(70-72)ccT>ccA	p.P24P	ACSM1_ENST00000520010.1_Silent_p.P24P|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	24					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P24P(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCAGCTGTGAAGGGGCAGGGT	0.502																																						uc002dhm.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(70-72)CCT>CCA		acyl-CoA synthetase medium-chain family member							138.0	147.0	144.0					16																	20702439		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20702439A>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.72T>A	16.37:g.20702439A>T						ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.P24P	p.P24P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			1	140	-			24					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.72T>A	CCDS10587.1																																																																																				PASS	0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		72	192	72	192	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21030989	21030989	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:21030989G>T	ENST00000261383.3	-	41	5978	c.5979C>A	c.(5977-5979)ccC>ccA	p.P1993P	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1993					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P1993P(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGACGCTTTTGGGCCTTGGGT	0.413																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5977-5979)CCC>CCA		dynein, axonemal, heavy chain 3							206.0	179.0	188.0					16																	21030989		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21030989G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5979C>A	16.37:g.21030989G>T							p.P1993P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	41	5979	-			1993					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.5979C>A	CCDS10594.1																																																																																				PASS	0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		63	171	63	171	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	23999892	23999892	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:23999892A>T	ENST00000321728.7	+	3	444	c.269A>T	c.(268-270)gAc>gTc	p.D90V	PRKCB_ENST00000303531.7_Missense_Mutation_p.D90V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	90					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D90V(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTGGCGCTGACAAGGGTCCA	0.488																																						uc002dmd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(268-270)GAC>GTC		protein kinase C, beta isoform 1	Vitamin E(DB00163)						118.0	106.0	110.0					16																	23999892		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23999892A>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.269A>T	16.37:g.23999892A>T	ENSP00000318315:p.Asp90Val					PRKCB_uc002dme.2_Missense_Mutation_p.D90V	p.D90V	NM_212535	NP_997700	P05771	KPCB_HUMAN			3	466	+			90					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.269A>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183190	0.57800	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.71461	-0.56;-0.57	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	L	0.49778	1.585	0.80722	D	1	B;B	0.33171	0.4;0.178	B;B	0.40506	0.331;0.089	T	0.71414	-0.4600	10	0.52906	T	0.07	.	13.6966	0.62582	1.0:0.0:0.0:0.0	.	90;90	P05771-2;P05771	.;KPCB_HUMAN	V	90	ENSP00000318315:D90V;ENSP00000305355:D90V	ENSP00000305355:D90V	D	+	2	0	PRKCB	23907393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.493000	0.90474	2.122000	0.65172	0.459000	0.35465	GAC		PASS	0.488	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		36	78	36	78	---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47117149	47117149	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:47117149T>A	ENST00000562435.1	-	9	1945	c.1561A>T	c.(1561-1563)Ata>Tta	p.I521L	NETO2_ENST00000303155.5_Missense_Mutation_p.I514L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	521					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)		p.I521L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCAATGGATATGGATGCTTGT	0.507										HNSCC(25;0.065)																												uc002eer.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1561-1563)ATA>TTA		neuropilin- and tolloid-like protein 2							90.0	84.0	86.0					16																	47117149		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47117149T>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1561A>T	16.37:g.47117149T>A	ENSP00000455169:p.Ile521Leu	HNSCC(25;0.065)				NETO2_uc002eeq.1_Missense_Mutation_p.I256L|NETO2_uc010vgf.1_Missense_Mutation_p.I378L	p.I521L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN			9	1946	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	521			Cytoplasmic (Potential).		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.1561A>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344476	0.24339	.	.	ENSG00000171208	ENST00000303155	.	.	.	6.02	6.02	0.97574	.	0.179634	0.64402	D	0.000014	T	0.35740	0.0942	N	0.22421	0.69	0.35089	D	0.764154	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.42899	-0.9424	9	0.12430	T	0.62	.	11.3618	0.49648	0.1669:0.0:0.0:0.8331	.	378;521;197	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	L	521	.	ENSP00000306726:I521L	I	-	1	0	NETO2	45674650	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.214000	0.51161	2.311000	0.77944	0.533000	0.62120	ATA		PASS	0.507	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		66	64	66	64	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49672234	49672234	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:49672234C>T	ENST00000561648.1	-	4	882	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ZNF423_ENST00000535559.1_Missense_Mutation_p.E160K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E217K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E217K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E277K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E160K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E217K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	277					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E277K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTCTCCAGCTCCTCCGTCTGG	0.582																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(829-831)GAG>AAG		zinc finger protein 423							60.0	45.0	50.0					16																	49672234		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672234C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.829G>A	16.37:g.49672234C>T	ENSP00000455426:p.Glu277Lys					ZNF423_uc010vgn.1_Missense_Mutation_p.E160K	p.E277K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1127	-		all_cancers(37;0.0155)	277			C2H2-type 6.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.829G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109521	0.37242	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.79033	-1.23;-1.23	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.095719	0.64402	D	0.000001	T	0.80265	0.4591	L	0.60455	1.87	0.42947	D	0.99436	P	0.38148	0.62	P	0.45167	0.472	T	0.79152	-0.1921	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	277	Q2M1K9	ZN423_HUMAN	K	277;160	ENSP00000262383:E277K;ENSP00000442321:E160K	.	E	-	1	0	ZNF423	48229735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.331000	0.79229	0.561000	0.74099	GAG		PASS	0.582	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		22	28	22	28	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51172639	51172639	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:51172639G>T	ENST00000251020.4	-	2	3527	c.3494C>A	c.(3493-3495)aCt>aAt	p.T1165N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T1068N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1165					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T1165N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCACAAATAGTGCAAGCAAA	0.483																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(3493-3495)ACT>AAT		sal-like 1 isoform a							103.0	93.0	97.0					16																	51172639		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172639G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3494C>A	16.37:g.51172639G>T	ENSP00000251020:p.Thr1165Asn					SALL1_uc010vgr.1_Missense_Mutation_p.T1068N|SALL1_uc010cbv.2_Intron	p.T1165N	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3525	-		all_cancers(37;0.0322)	1165			C2H2-type 9.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3494C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229741	0.58777	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07444	3.19;3.19	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163445	0.56097	D	0.000022	T	0.06826	0.0174	N	0.11870	0.19	0.51482	D	0.99992	B	0.24258	0.1	B	0.30716	0.119	T	0.41556	-0.9502	10	0.12103	T	0.63	.	18.9692	0.92708	0.0:0.0:1.0:0.0	.	1165	Q9NSC2	SALL1_HUMAN	N	1165;1068;1129	ENSP00000251020:T1165N;ENSP00000407914:T1068N	ENSP00000251020:T1165N	T	-	2	0	SALL1	49730140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.198000	0.65147	2.469000	0.83416	0.563000	0.77884	ACT		PASS	0.483	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		26	29	26	29	---	---	---	---
ENKD1	84080	broad.mit.edu	37	16	67700143	67700143	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr16:67700143C>T	ENST00000243878.4	-	2	432	c.111G>A	c.(109-111)gcG>gcA	p.A37A	ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank|ENKD1_ENST00000602644.1_Silent_p.A37A	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	37						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)		p.A37A(1)									CCAGCTTCAGCGCGTTTCCCT	0.731																																						uc002etw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(109-111)GCG>GCA		hypothetical protein LOC84080							18.0	23.0	21.0					16																	67700143		2184	4276	6460	SO:0001819	synonymous_variant	84080					microtubule cytoskeleton	protein binding	g.chr16:67700143C>T	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.111G>A	16.37:g.67700143C>T						C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.A37A|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	p.A37A	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	2	394	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	37					Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.111G>A	CCDS10844.1																																																																																				PASS	0.731	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		3	39	3	39	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6927751	6927751	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:6927751C>T	ENST00000293805.5	+	4	525	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	145	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L145L(1)		skin(1)	1						CCTGCGCCCCCTGGAAGCAGA	0.587																																						uc002geg.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(433-435)CTG>TTG		B-cell CLL/lymphoma 6, member B (zinc finger							57.0	65.0	63.0					17																	6927751		1962	4135	6097	SO:0001819	synonymous_variant	255877					nucleus	zinc ion binding	g.chr17:6927751C>T	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.433C>T	17.37:g.6927751C>T						BCL6B_uc010clt.1_Silent_p.L145L	p.L145L	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN			4	490	+			145			Pro-rich.		Q6PCB4	Silent	SNP	ENST00000293805.5	37	c.433C>T	CCDS42248.1																																																																																				PASS	0.587	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		51	115	51	115	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10411234	10411234	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:10411234G>A	ENST00000226207.5	-	17	2031	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	646	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S646F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGAAAGAAGAACCCTTCTT	0.398																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1936-1938)TCT>TTT		myosin, heavy chain 1, skeletal muscle, adult							72.0	81.0	78.0					17																	10411234		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411234G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1937C>T	17.37:g.10411234G>A	ENSP00000226207:p.Ser646Phe					uc002gml.1_Intron	p.S646F	NM_005963	NP_005954	P12882	MYH1_HUMAN			17	2031	-			646			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1937C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647933	0.87958	.	.	ENSG00000109061	ENST00000226207	D	0.88354	-2.37	5.41	5.41	0.78517	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000624	D	0.93539	0.7938	M	0.77486	2.375	0.54753	D	0.999985	P	0.44578	0.838	P	0.54544	0.755	D	0.93783	0.7085	10	0.72032	D	0.01	.	19.5699	0.95407	0.0:0.0:1.0:0.0	.	646	P12882	MYH1_HUMAN	F	646	ENSP00000226207:S646F	ENSP00000226207:S646F	S	-	2	0	MYH1	10351959	0.787000	0.28750	1.000000	0.80357	0.998000	0.95712	2.909000	0.48758	2.707000	0.92482	0.650000	0.86243	TCT		PASS	0.398	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		44	70	44	70	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16097825	16097825	+	Missense_Mutation	SNP	T	T	A	rs73281920	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:16097825T>A	ENST00000268712.3	-	2	316	c.59A>T	c.(58-60)tAt>tTt	p.Y20F	RN7SL442P_ENST00000473804.2_RNA|NCOR1_ENST00000395848.1_Missense_Mutation_p.Y20F|NCOR1_ENST00000395851.1_Missense_Mutation_p.Y20F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	20	Interaction with ZBTB33 and HEXIM1.			Y -> S (in Ref. 2; AAO32942). {ECO:0000305}.	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Y20F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGAGGAGGATAACGACTTTG	0.428																																						uc002gpo.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(58-60)TAT>TTT		nuclear receptor co-repressor 1							215.0	146.0	169.0					17																	16097825		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16097825T>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.59A>T	17.37:g.16097825T>A	ENSP00000268712:p.Tyr20Phe					NCOR1_uc002gpn.2_Missense_Mutation_p.Y20F|NCOR1_uc002gpp.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpr.2_Missense_Mutation_p.Y20F|NCOR1_uc002gps.1_Missense_Mutation_p.Y20F|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.Y20F|NCOR1_uc010cpa.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpu.2_Missense_Mutation_p.Y20F	p.Y20F	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	299	-			20			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.59A>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266859	0.40095	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828;ENST00000430577	T;T;T	0.59224	0.35;0.92;0.28	5.24	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.72220	0.3433	M	0.69823	2.125	0.80722	D	1	D;D;D;D;P;D;P	0.76494	0.999;0.999;0.999;0.999;0.629;0.985;0.621	D;D;D;D;B;D;B	0.85130	0.997;0.997;0.99;0.997;0.229;0.983;0.404	T	0.73285	-0.4031	10	0.87932	D	0	.	9.9889	0.41858	0.0:0.08:0.0:0.92	.	20;20;20;20;20;20;20	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	F	20	ENSP00000268712:Y20F;ENSP00000379192:Y20F;ENSP00000379189:Y20F	ENSP00000268712:Y20F	Y	-	2	0	NCOR1	16038550	1.000000	0.71417	0.570000	0.28473	0.981000	0.71138	5.149000	0.64863	0.829000	0.34733	0.455000	0.32223	TAT		PASS	0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		8	30	8	30	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32964687	32964687	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:32964687G>T	ENST00000321639.5	+	10	2719	c.2391G>T	c.(2389-2391)ctG>ctT	p.L797L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	797						integral component of membrane (GO:0016021)		p.L797L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGACAGACCTGGAGATCGGCA	0.652																																						uc002hif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2389-2391)CTG>CTT		transmembrane protein 132E precursor							60.0	60.0	60.0					17																	32964687		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964687G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2391G>T	17.37:g.32964687G>T							p.L797L	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2719	+			797			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2391G>T	CCDS11283.1																																																																																				PASS	0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		25	55	25	55	---	---	---	---
DHX58	79132	broad.mit.edu	37	17	40260052	40260052	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:40260052C>A	ENST00000251642.3	-	7	975	c.753G>T	c.(751-753)cgG>cgT	p.R251R		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	251					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R251R(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCCAAATTTCCGGCTCAACT	0.567																																						uc002hyw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(751-753)CGG>CGT		RNA helicase LGP2							147.0	129.0	135.0					17																	40260052		2203	4300	6503	SO:0001819	synonymous_variant	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40260052C>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.753G>T	17.37:g.40260052C>A						DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.R244R	p.R251R	NM_024119	NP_077024	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	976	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	251					Q9HAM6	Silent	SNP	ENST00000251642.3	37	c.753G>T	CCDS11416.1																																																																																				PASS	0.567	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		42	53	42	53	---	---	---	---
NBR1	4077	broad.mit.edu	37	17	41362019	41362019	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:41362019A>T	ENST00000422280.1	+	21	3286	c.2827A>T	c.(2827-2829)Aat>Tat	p.N943Y	TMEM106A_ENST00000536052.1_5'Flank|NBR1_ENST00000341165.6_Missense_Mutation_p.N943Y|TMEM106A_ENST00000588659.1_5'Flank|NBR1_ENST00000590996.1_Missense_Mutation_p.N943Y|TMEM106A_ENST00000331615.3_5'Flank|NBR1_ENST00000389312.4_Missense_Mutation_p.N943Y|TMEM106A_ENST00000541594.1_5'Flank	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	943	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.N943Y(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GAAGAAACACAATTACAATAT	0.443																																						uc010czd.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2827-2829)AAT>TAT		neighbor of BRCA1 gene 1							56.0	51.0	53.0					17																	41362019		1568	3582	5150	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41362019A>T	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2827A>T	17.37:g.41362019A>T	ENSP00000411250:p.Asn943Tyr					NBR1_uc010diz.2_Missense_Mutation_p.N943Y|NBR1_uc010whv.1_Missense_Mutation_p.N943Y|NBR1_uc010whw.1_3'UTR|TMEM106A_uc002idn.1_5'Flank|TMEM106A_uc010why.1_5'Flank|TMEM106A_uc010cze.1_5'Flank|TMEM106A_uc010whz.1_5'Flank	p.N943Y	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	21	2967	+		Breast(137;0.00086)	943			UBA.		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.2827A>T	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.859947	0.91433	.	.	ENSG00000188554	ENST00000422280;ENST00000537493;ENST00000341165;ENST00000389312	T;T;T	0.48522	0.81;0.81;0.81	5.86	5.86	0.93980	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	.	.	.	.	T	0.67173	0.2865	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69953	-0.5005	9	0.87932	D	0	-18.5621	16.2479	0.82454	1.0:0.0:0.0:0.0	.	943	Q14596	NBR1_HUMAN	Y	943;194;943;943	ENSP00000411250:N943Y;ENSP00000343479:N943Y;ENSP00000373963:N943Y	ENSP00000343479:N943Y	N	+	1	0	NBR1	38717545	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.490000	0.60319	2.241000	0.73720	0.533000	0.62120	AAT		PASS	0.443	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		8	14	8	14	---	---	---	---
PRR11	55771	broad.mit.edu	37	17	57275130	57275130	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr17:57275130G>T	ENST00000262293.4	+	9	1306	c.994G>T	c.(994-996)Gcc>Tcc	p.A332S	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.A39S	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	332						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A332S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GATGACGCAGGCCTTAAGGAG	0.433																																						uc002ixf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(994-996)GCC>TCC		proline rich 11							95.0	101.0	99.0					17																	57275130		2203	4300	6503	SO:0001583	missense	55771							g.chr17:57275130G>T		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.994G>T	17.37:g.57275130G>T	ENSP00000262293:p.Ala332Ser					PRR11_uc002ixg.1_RNA	p.A332S	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			9	1073	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		332					Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	c.994G>T	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339764	0.60963	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.78685	0.4322	M	0.72894	2.215	0.49130	D	0.999754	D	0.89917	1.0	D	0.87578	0.998	T	0.80216	-0.1474	9	0.87932	D	0	0.0091	16.5855	0.84727	0.0:0.0:1.0:0.0	.	332	Q96HE9	PRR11_HUMAN	S	332	.	ENSP00000262293:A332S	A	+	1	0	PRR11	54629912	1.000000	0.71417	0.945000	0.38365	0.144000	0.21451	5.604000	0.67626	2.753000	0.94483	0.655000	0.94253	GCC		PASS	0.433	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		92	66	92	66	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3067412	3067412	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:3067412C>T	ENST00000356443.4	-	38	5239	c.4906G>A	c.(4906-4908)Gtg>Atg	p.V1636M	MYOM1_ENST00000261606.7_Missense_Mutation_p.V1540M|MYOM1_ENST00000400569.3_Missense_Mutation_p.V1636M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1636	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.V1636M(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGTGCTCACGCCGTTGATG	0.587																																						uc002klp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(4906-4908)GTG>ATG		myomesin 1 isoform a							76.0	80.0	79.0					18																	3067412		2203	4300	6503	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3067412C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4906G>A	18.37:g.3067412C>T	ENSP00000348821:p.Val1636Met					MYOM1_uc002klq.2_Missense_Mutation_p.V1540M	p.V1636M	NM_003803	NP_003794	P52179	MYOM1_HUMAN			38	5240	-			1636			Ig-like C2-type 5.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.4906G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521860	0.64747	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.72167	-0.63;-0.63;-0.63	5.79	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	M	0.93763	3.455	0.53005	D	0.99996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89675	0.3886	10	0.62326	D	0.03	.	14.2706	0.66149	0.0:0.9292:0.0:0.0708	.	1540;1636	P52179-2;P52179	.;MYOM1_HUMAN	M	1636;1636;1540	ENSP00000348821:V1636M;ENSP00000383413:V1636M;ENSP00000261606:V1540M	ENSP00000261606:V1540M	V	-	1	0	MYOM1	3057412	1.000000	0.71417	0.624000	0.29186	0.059000	0.15707	6.081000	0.71309	2.734000	0.93682	0.655000	0.94253	GTG		PASS	0.587	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		9	62	9	62	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5416379	5416379	+	Splice_Site	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:5416379T>A	ENST00000341928.2	-	13	1847		c.e13-2		EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCAGGTGACTGATGTgaaag	0.458																																						uc002kmt.1																			1	Unknown(1)		lung(1)	ovary(5)	5						c.e13-1		erythrocyte membrane protein band 4.1-like 3							27.0	28.0	28.0					18																	5416379		2199	4295	6494	SO:0001630	splice_region_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416379T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1507-2A>T	18.37:g.5416379T>A						EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	p.S503_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			13	1593	-								B7Z4I5|F5GX05|O95713|Q9BRP5	Splice_Site	SNP	ENST00000341928.2	37	c.1507_splice	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116145	0.56505	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4805	0.75521	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L3	5406379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.842000	0.55858	2.051000	0.60960	0.460000	0.39030	.		PASS	0.458	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	Intron	31	72	31	72	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6993639	6993639	+	Splice_Site	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:6993639C>T	ENST00000389658.3	-	35	5102		c.e35+1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCCCACACTACCTGTGATGCT	0.428																																						uc002knm.2																			1	Unknown(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.e35+1		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						171.0	152.0	158.0					18																	6993639		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6993639C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5008+1G>A	18.37:g.6993639C>T						LAMA1_uc010wzj.1_Splice_Site_p.E1146_splice	p.E1670_splice	NM_005559	NP_005550	P25391	LAMA1_HUMAN			35	5102	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37	c.5008_splice	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344189	0.41498	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1736	0.89754	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	6983639	1.000000	0.71417	0.992000	0.48379	0.164000	0.22412	4.547000	0.60712	2.825000	0.97269	0.655000	0.94253	.		PASS	0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	77	149	77	149	---	---	---	---
TXNDC2	84203	broad.mit.edu	37	18	9887052	9887052	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:9887052G>C	ENST00000306084.6	+	2	775	c.576G>C	c.(574-576)gaG>gaC	p.E192D	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E125D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	192	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E192D(1)|p.E125D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAAGAAGGAGGACCTCCCCA	0.567																																						uc002koi.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(574-576)GAG>GAC		thioredoxin domain-containing 2 isoform 2							140.0	142.0	141.0					18																	9887052		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887052G>C	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.576G>C	18.37:g.9887052G>C	ENSP00000304908:p.Glu192Asp					TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E125D	p.E192D	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1025	+			192			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.576G>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.722117	0.00700	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16743	2.32;2.32	2.54	-5.08	0.02929	.	7.919520	0.01142	N	0.006220	T	0.08846	0.0219	N	0.14661	0.345	0.09310	N	1	B	0.22414	0.069	B	0.24541	0.054	T	0.19160	-1.0314	9	.	.	.	.	2.7238	0.05208	0.2165:0.1898:0.4553:0.1383	.	192	Q86VQ3	TXND2_HUMAN	D	125;192;192	ENSP00000350419:E125D;ENSP00000304908:E192D	.	E	+	3	2	TXNDC2	9877052	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.686000	0.00198	-3.175000	0.00224	-1.473000	0.01005	GAG		PASS	0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			17	205	17	205	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19996472	19996472	+	5'Flank	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:19996472C>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.A435S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.A435S(4)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTCCAAGCTGCCGACCAATTA	0.313																																						uc002ktv.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(1303-1305)GCA>TCA		cutaneous T-cell lymphoma-associated antigen 1							53.0	59.0	57.0					18																	19996472		2140	4277	6417	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996472C>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996472C>A	Exception_encountered						p.A435S	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1407	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		435					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1303G>T		.	.	.	.	.	.	.	.	.	.	C	10.08	1.252050	0.22880	.	.	ENSG00000212710	ENST00000391403	T	0.42131	0.98	0.779	0.779	0.18550	.	.	.	.	.	T	0.40119	0.1104	M	0.69823	2.125	0.26819	N	0.968833	P	0.44429	0.835	B	0.42738	0.396	T	0.31024	-0.9958	8	.	.	.	.	4.8937	0.13740	0.0:1.0:0.0:0.0	.	435	Q96RT6	CTGE2_HUMAN	S	435	ENSP00000375220:A435S	.	A	-	1	0	CTAGE1	18250470	0.057000	0.20700	0.402000	0.26371	0.047000	0.14425	-0.013000	0.12678	0.697000	0.31718	0.479000	0.44913	GCA		PASS	0.313	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		30	121	30	121	---	---	---	---
TTR	7276	broad.mit.edu	37	18	29175121	29175121	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:29175121C>T	ENST00000237014.3	+	3	416	c.239C>T	c.(238-240)aCt>aTt	p.T80I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	80			T -> A (in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy). {ECO:0000269|PubMed:12050338, ECO:0000269|PubMed:15217993, ECO:0000269|PubMed:17503405, ECO:0000269|PubMed:7655883}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.T80I(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGGCTCACAACTGAGGAGGAA	0.453																																						uc002kwx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)ACT>ATT		transthyretin precursor	Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)						92.0	78.0	83.0					18																	29175121		2203	4300	6503	SO:0001583	missense	7276				transport	cytoplasm	hormone activity	g.chr18:29175121C>T	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.239C>T	18.37:g.29175121C>T	ENSP00000237014:p.Thr80Ile						p.T80I	NM_000371	NP_000362	P02766	TTHY_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00523)		3	375	+			80		T -> A (in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy).			Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	c.239C>T	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129915	0.56721	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.96104	-3.91	5.54	4.62	0.57501	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.094886	0.64402	D	0.000001	D	0.97536	0.9193	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.97882	1.0292	10	0.87932	D	0	-23.0019	15.9809	0.80108	0.1348:0.8652:0.0:0.0	.	80	P02766	TTHY_HUMAN	I	80	ENSP00000237014:T80I	ENSP00000237014:T80I	T	+	2	0	TTR	27429119	0.416000	0.25424	0.940000	0.37924	0.300000	0.27592	1.836000	0.39191	2.764000	0.94973	0.655000	0.94253	ACT		PASS	0.453	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		23	69	23	69	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29453429	29453429	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:29453429G>A	ENST00000283351.4	-	14	2361	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R622W	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	676					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R676W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAAAACCCGTGTTGCTGAA	0.368																																						uc002kxc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2026-2028)CGG>TGG		hypothetical protein LOC22878							50.0	50.0	50.0					18																	29453429		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29453429G>A	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2026C>T	18.37:g.29453429G>A	ENSP00000283351:p.Arg676Trp					KIAA1012_uc002kxb.3_Missense_Mutation_p.R622W|KIAA1012_uc002kxd.3_RNA	p.R676W	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			14	2390	-			676					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2026C>T	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045232	0.55110	.	.	ENSG00000153339	ENST00000283351	T	0.11063	2.81	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02064	-1.1220	10	0.46703	T	0.11	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	676	Q9Y2L5	TPPC8_HUMAN	W	676	ENSP00000283351:R676W	ENSP00000283351:R676W	R	-	1	2	TRAPPC8	27707427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.238000	0.51352	2.768000	0.95171	0.655000	0.94253	CGG		PASS	0.368	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		19	51	19	51	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31263479	31263479	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr18:31263479C>A	ENST00000269197.5	+	8	826	c.826C>A	c.(826-828)Cct>Act	p.P276T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	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.P276T(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCTTCCTTACCTCAGCATTT	0.388																																						uc010dmg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(826-828)CCT>ACT		additional sex combs like 3							119.0	112.0	115.0					18																	31263479		1862	4100	5962	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31263479C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.826C>A	18.37:g.31263479C>A	ENSP00000269197:p.Pro276Thr					ASXL3_uc002kxq.2_5'UTR	p.P276T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			8	881	+			276					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.826C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383032	0.82792	.	.	ENSG00000141431	ENST00000269197	T	0.45276	0.9	5.5	5.5	0.81552	.	.	.	.	.	T	0.67239	0.2872	M	0.74467	2.265	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.70135	-0.4955	9	0.87932	D	0	.	19.3983	0.94617	0.0:1.0:0.0:0.0	.	276	Q9C0F0	ASXL3_HUMAN	T	276	ENSP00000269197:P276T	ENSP00000269197:P276T	P	+	1	0	ASXL3	29517477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.031000	0.76491	2.597000	0.87782	0.655000	0.94253	CCT		PASS	0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			27	60	27	60	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	425217	425217	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:425217C>A	ENST00000264554.6	-	10	1188	c.1189G>T	c.(1189-1191)Ggc>Tgc	p.G397C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	397	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.G758C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCACGTAGCCGTCCCCCGGT	0.721																																						uc002loq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1189-1191)GGC>TGC		SHC (Src homology 2 domain containing)							15.0	19.0	17.0					19																	425217		1874	4079	5953	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:425217C>A	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1189G>T	19.37:g.425217C>A	ENSP00000264554:p.Gly397Cys					SHC2_uc002lop.3_Missense_Mutation_p.G138C	p.G397C	NM_012435	NP_036567	P98077	SHC2_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)	10	1189	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	397			CH1.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.1189G>T	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712881	0.30413	.	.	ENSG00000129946	ENST00000264554	T	0.28069	1.63	4.22	4.22	0.49857	.	0.814187	0.11047	N	0.605498	T	0.53850	0.1822	M	0.77486	2.375	0.58432	D	0.999995	D	0.65815	0.995	P	0.59889	0.865	T	0.54180	-0.8332	10	0.52906	T	0.07	.	14.4342	0.67270	0.0:1.0:0.0:0.0	.	397	P98077	SHC2_HUMAN	C	397	ENSP00000264554:G397C	ENSP00000264554:G397C	G	-	1	0	SHC2	376217	0.999000	0.42202	0.985000	0.45067	0.167000	0.22549	4.533000	0.60615	2.084000	0.62774	0.491000	0.48974	GGC		PASS	0.721	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			12	8	12	8	---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3819124	3819124	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:3819124G>A	ENST00000262961.4	-	12	1860	c.1850C>T	c.(1849-1851)gCa>gTa	p.A617V		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	617	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A617V(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGCCCGCTCTGCGTGGGACAC	0.687																																						uc002lyw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1849-1851)GCA>GTA		zinc finger RNA binding protein 2 isoform 1							25.0	30.0	28.0					19																	3819124		2012	4152	6164	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3819124G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1850C>T	19.37:g.3819124G>A	ENSP00000262961:p.Ala617Val						p.A617V	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	12	1862	-			617						Missense_Mutation	SNP	ENST00000262961.4	37	c.1850C>T	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052956	0.19907	.	.	ENSG00000105278	ENST00000262961	T	0.05258	3.47	3.82	-2.63	0.06133	.	1.246150	0.06169	N	0.677316	T	0.02767	0.0083	N	0.04203	-0.255	0.21861	N	0.999509	B	0.17038	0.02	B	0.15484	0.013	T	0.46484	-0.9188	10	0.26408	T	0.33	8.0E-4	5.0373	0.14441	0.3703:0.1455:0.4842:0.0	.	617	Q9UPR6	ZFR2_HUMAN	V	617	ENSP00000262961:A617V	ENSP00000262961:A617V	A	-	2	0	ZFR2	3770124	0.064000	0.20934	0.000000	0.03702	0.001000	0.01503	2.432000	0.44784	-0.465000	0.06953	0.561000	0.74099	GCA		PASS	0.687	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		4	7	4	7	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5788169	5788169	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:5788169G>C	ENST00000309061.7	-	5	1057	c.961C>G	c.(961-963)Cga>Gga	p.R321G	CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.R79G|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	321							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.R321G(1)|p.R321*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGATCCGTCGGAAGGGCAGG	0.617																																						uc002mdc.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(961-963)CGA>GGA		dihydrouridine synthase 3-like isoform 1							45.0	46.0	46.0					19																	5788169		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5788169G>C		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.961C>G	19.37:g.5788169G>C	ENSP00000311977:p.Arg321Gly					DUS3L_uc002mdd.2_Missense_Mutation_p.R79G|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	p.R321G	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			5	1058	-			321					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.961C>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885681	0.51908	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.57436	0.4;0.4	3.78	3.78	0.43462	Aldolase-type TIM barrel (1);	0.000000	0.64402	U	0.000002	T	0.82162	0.4977	H	0.99425	4.56	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85939	0.1457	10	0.87932	D	0	-28.7925	8.7755	0.34758	0.0:0.0:0.7743:0.2257	.	79;321	Q96G46-3;Q96G46	.;DUS3L_HUMAN	G	321;79	ENSP00000311977:R321G;ENSP00000315558:R79G	ENSP00000311977:R321G	R	-	1	2	DUS3L	5739169	1.000000	0.71417	0.997000	0.53966	0.537000	0.34900	3.841000	0.55850	1.672000	0.50884	0.306000	0.20318	CGA		PASS	0.617	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		18	27	18	27	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9075135	9075135	+	Nonsense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:9075135G>C	ENST00000397910.4	-	3	12514	c.12311C>G	c.(12310-12312)tCa>tGa	p.S4104*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4106	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S4104*(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						TGCACTTAGTGATGTAGCGCC	0.507																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12310-12312)TCA>TGA		mucin 16							122.0	119.0	120.0					19																	9075135		2107	4228	6335	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075135G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12311C>G	19.37:g.9075135G>C	ENSP00000381008:p.Ser4104*						p.S4104*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12515	-			4106			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.12311C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	54	22.523338	0.99949	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.09	-0.165	0.13355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.4771	0.11748	0.3524:0.0:0.6476:0.0	.	.	.	.	X	4104	.	ENSP00000381008:S4104X	S	-	2	0	MUC16	8936135	0.002000	0.14202	0.000000	0.03702	0.576000	0.36127	0.486000	0.22340	0.035000	0.15519	0.313000	0.20887	TCA		PASS	0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		36	51	36	51	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10610211	10610211	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:10610211C>A	ENST00000171111.5	-	2	1046	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V167F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	167			V -> F (in a lung adenocarcinoma patient). {ECO:0000269|PubMed:17020408}.		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.V167F(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)	GCACGGACAACGCTGTCGATC	0.582																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(499-501)GTT>TTT		kelch-like ECH-associated protein 1							163.0	130.0	142.0					19																	10610211		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610211C>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.499G>T	19.37:g.10610211C>A	ENSP00000171111:p.Val167Phe					KEAP1_uc002mor.1_Missense_Mutation_p.V167F	p.V167F	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	655	-			167		V -> F (in a lung adenocarcinoma patient).			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.499G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451118	0.84209	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.73469	-0.75;-0.75	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93022	0.6441	10	0.87932	D	0	.	15.3825	0.74669	0.0:1.0:0.0:0.0	.	167	Q14145	KEAP1_HUMAN	F	167	ENSP00000171111:V167F;ENSP00000377245:V167F	ENSP00000171111:V167F	V	-	1	0	KEAP1	10471211	1.000000	0.71417	0.985000	0.45067	0.825000	0.46686	5.809000	0.69172	2.232000	0.73038	0.561000	0.74099	GTT		PASS	0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		28	40	28	40	---	---	---	---
RGL3	57139	broad.mit.edu	37	19	11510615	11510615	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:11510615C>T	ENST00000380456.3	-	16	1725	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	RGL3_ENST00000568628.1_5'Flank|RGL3_ENST00000393423.3_Silent_p.G560G	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	554	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.G318G(1)|p.G554G(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGGGGGGTGACCCTGGGGACA	0.637																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1660-1662)GGG>GGA		ral guanine nucleotide dissociation							37.0	43.0	41.0					19																	11510615		2203	4300	6503	SO:0001819	synonymous_variant	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11510615C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1662G>A	19.37:g.11510615C>T						RGL3_uc002mrn.2_Silent_p.G318G|RGL3_uc002mrm.2_Silent_p.G318G|RGL3_uc002mro.2_Silent_p.G560G	p.G554G	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			16	1726	-			554			Pro-rich.		B5ME84|B7ZL22|Q0P6G0	Silent	SNP	ENST00000380456.3	37	c.1662G>A	CCDS32910.1																																																																																				PASS	0.637	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		37	48	37	48	---	---	---	---
ECSIT	51295	broad.mit.edu	37	19	11624938	11624938	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:11624938G>C	ENST00000270517.7	-	3	330	c.195C>G	c.(193-195)ccC>ccG	p.P65P	ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Silent_p.P65P|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000591104.1_Silent_p.P65P	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	65					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P65P(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GAGCCTTGGTGGGCCTCTGCC	0.667																																						uc002msb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(193-195)CCC>CCG		evolutionarily conserved signaling intermediate							29.0	33.0	32.0					19																	11624938		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624938G>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.195C>G	19.37:g.11624938G>C						ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.P65P|ECSIT_uc010dyd.2_Silent_p.P65P|ECSIT_uc010xma.1_Intron	p.P65P	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN			3	329	-			65					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.195C>G	CCDS12262.1																																																																																				PASS	0.667	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		12	15	12	15	---	---	---	---
ZNF20	7568	broad.mit.edu	37	19	12243921	12243921	+	Silent	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:12243921T>C	ENST00000334213.5	-	4	1304	c.1080A>G	c.(1078-1080)acA>acG	p.T360T	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T407T(1)|p.T360T(1)		endometrium(1)|kidney(1)|lung(6)	8						CCTCAGTGTGTGTCTTTTCAT	0.443																																						uc002mtf.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1078-1080)ACA>ACG		zinc finger protein 20							56.0	57.0	57.0					19																	12243921		2198	4296	6494	SO:0001819	synonymous_variant	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243921T>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1080A>G	19.37:g.12243921T>C						ZNF20_uc002mte.1_Silent_p.T325T|ZNF20_uc002mtg.1_Silent_p.T360T	p.T360T	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	1223	-			360			C2H2-type 9.		Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	c.1080A>G	CCDS45986.1																																																																																				PASS	0.443	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		48	58	48	58	---	---	---	---
ZNF136	7695	broad.mit.edu	37	19	12297702	12297702	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:12297702G>T	ENST00000343979.4	+	4	649	c.509G>T	c.(508-510)tGt>tTt	p.C170F	ZNF136_ENST00000398616.2_Missense_Mutation_p.C104F	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	170					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.C170F(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCTATGATTGTAAGGAATGT	0.393																																						uc002mti.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(508-510)TGT>TTT		zinc finger protein 136							61.0	59.0	60.0					19																	12297702		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297702G>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.509G>T	19.37:g.12297702G>T	ENSP00000344162:p.Cys170Phe					ZNF136_uc010xmh.1_Missense_Mutation_p.C104F	p.C170F	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	609	+			170			C2H2-type 2.			Missense_Mutation	SNP	ENST00000343979.4	37	c.509G>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415604	0.83449	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	D;D	0.85088	-1.94;-1.94	1.22	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94288	0.8165	H	0.97962	4.115	0.47037	D	0.999292	D	0.89917	1.0	D	0.87578	0.998	D	0.93954	0.7234	8	.	.	.	.	10.0374	0.42137	0.0:0.0:1.0:0.0	.	170	P52737	ZN136_HUMAN	F	170;104	ENSP00000344162:C170F;ENSP00000381617:C104F	.	C	+	2	0	ZNF136	12158702	1.000000	0.71417	0.966000	0.40874	0.999000	0.98932	7.489000	0.81451	0.979000	0.38497	0.655000	0.94253	TGT		PASS	0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		30	34	30	34	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13397745	13397745	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:13397745G>T	ENST00000360228.5	-	20	3124	c.3125C>A	c.(3124-3126)cCc>cAc	p.P1042H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P1043H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1043					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.P1043H(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACAGGTTGGGGCCCGACAC	0.552																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(3127-3129)CCC>CAC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						17.0	19.0	18.0					19																	13397745		1744	3910	5654	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13397745G>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3125C>A	19.37:g.13397745G>T	ENSP00000353362:p.Pro1042His					CACNA1A_uc010dzc.2_Missense_Mutation_p.P568H|CACNA1A_uc002mwy.3_Missense_Mutation_p.P1042H|CACNA1A_uc010xne.1_Missense_Mutation_p.P571H	p.P1043H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		20	3364	-			1043			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.3128C>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687672	0.48097	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95853	-3.83	5.19	4.15	0.48705	.	1.277870	0.05102	N	0.487367	D	0.96984	0.9015	L	0.53249	1.67	0.43559	D	0.995871	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.65573	0.921;0.847;0.936	D	0.90164	0.4230	10	0.48119	T	0.1	.	12.5824	0.56397	0.0827:0.0:0.9173:0.0	.	1043;1046;1042	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	H	1042;1046;1043;1043	ENSP00000353362:P1042H	ENSP00000317661:P1043H	P	-	2	0	CACNA1A	13258745	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.397000	0.52572	1.183000	0.42943	0.555000	0.69702	CCC		PASS	0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		22	22	22	22	---	---	---	---
OR7C2	26658	broad.mit.edu	37	19	15052439	15052439	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:15052439C>A	ENST00000248072.3	+	1	139	c.139C>A	c.(139-141)Ctg>Atg	p.L47M		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L47M(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GCTCATCATCCTGACCATCAG	0.527																																						uc010xoc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(139-141)CTG>ATG		olfactory receptor, family 7, subfamily C,							108.0	89.0	95.0					19																	15052439		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052439C>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.139C>A	19.37:g.15052439C>A	ENSP00000248072:p.Leu47Met						p.L47M	NM_012377	NP_036509	O60412	OR7C2_HUMAN			1	139	+	Ovarian(108;0.203)		47			Cytoplasmic (Potential).		O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.139C>A	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	c	11.85	1.762269	0.31228	.	.	ENSG00000127529	ENST00000248072	T	0.02763	4.17	4.19	-1.35	0.09114	GPCR, rhodopsin-like superfamily (1);	0.246270	0.20977	U	0.082288	T	0.06826	0.0174	M	0.80982	2.52	0.19775	N	0.999955	D	0.60160	0.987	P	0.52343	0.696	T	0.13045	-1.0524	10	0.66056	D	0.02	.	4.3112	0.10971	0.0:0.401:0.171:0.428	.	47	O60412	OR7C2_HUMAN	M	47	ENSP00000248072:L47M	ENSP00000248072:L47M	L	+	1	2	OR7C2	14913439	0.000000	0.05858	0.953000	0.39169	0.218000	0.24690	-4.212000	0.00273	-0.119000	0.11830	0.514000	0.50259	CTG		PASS	0.527	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			48	54	48	54	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476912	21476912	+	Missense_Mutation	SNP	C	C	A	rs112819776	byFrequency	TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:21476912C>A	ENST00000356929.3	-	4	1053	c.856G>T	c.(856-858)Ggc>Tgc	p.G286C		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G286C(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						AAAGCTTTGCCACATTCTTCA	0.383																																						uc002npq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(856-858)GGC>TGC		zinc finger protein 708							51.0	55.0	54.0					19																	21476912		2198	4298	6496	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476912C>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.856G>T	19.37:g.21476912C>A	ENSP00000349401:p.Gly286Cys					ZNF708_uc002npr.1_Missense_Mutation_p.G222C|ZNF708_uc010ecs.1_Missense_Mutation_p.G222C	p.G286C	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1054	-			286			C2H2-type 6.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.856G>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.630375	0.28978	.	.	ENSG00000182141	ENST00000356929	T	0.01516	4.81	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	H	0.96576	3.845	0.38239	D	0.941251	D	0.89917	1.0	D	0.91635	0.999	T	0.03852	-1.0998	9	0.62326	D	0.03	.	8.9689	0.35894	0.0:1.0:0.0:0.0	.	286	P17019	ZN708_HUMAN	C	286	ENSP00000349401:G286C	ENSP00000349401:G286C	G	-	1	0	ZNF708	21268752	0.049000	0.20398	0.552000	0.28243	0.491000	0.33493	0.979000	0.29500	0.482000	0.27582	0.485000	0.47835	GGC		PASS	0.383	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		37	68	37	68	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24309708	24309708	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:24309708A>G	ENST00000357002.4	+	4	1021	c.906A>G	c.(904-906)gcA>gcG	p.A302A	ZNF254_ENST00000342944.6_Silent_p.A217A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	302					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A302A(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GTGGCAAAGCATTTATCTGGT	0.363																																						uc002nru.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(904-906)GCA>GCG		zinc finger protein 254							41.0	42.0	42.0					19																	24309708		2203	4300	6503	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309708A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.906A>G	19.37:g.24309708A>G						ZNF254_uc010xrk.1_Silent_p.A217A	p.A302A	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1040	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	302			C2H2-type 4.		A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.906A>G	CCDS32983.1																																																																																				PASS	0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		40	32	40	32	---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33349399	33349399	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:33349399A>G	ENST00000023064.4	-	9	1115	c.924T>C	c.(922-924)ttT>ttC	p.F308F	SLC7A9_ENST00000590341.1_Silent_p.F308F|SLC7A9_ENST00000587772.1_Silent_p.F308F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	308					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.F308F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAAATGCCACAAAAAGTGGAA	0.562																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(922-924)TTT>TTC		solute carrier family 7, member 9	L-Cystine(DB00138)						96.0	76.0	83.0					19																	33349399		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33349399A>G	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.924T>C	19.37:g.33349399A>G						SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.F308F|SLC7A9_uc002ntw.3_Silent_p.F99F	p.F308F	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			9	1041	-	Esophageal squamous(110;0.137)		308			Helical; (Potential).		B2R9A6	Silent	SNP	ENST00000023064.4	37	c.924T>C	CCDS12425.1																																																																																				PASS	0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			21	40	21	40	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33600724	33600724	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:33600724A>T	ENST00000170564.2	+	11	1701	c.1387A>T	c.(1387-1389)Agg>Tgg	p.R463W		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.R463W(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCTCAAGGCCAGGAGTCTGGC	0.537																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1387-1389)AGG>TGG		G patch domain containing 1							46.0	48.0	47.0					19																	33600724		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33600724A>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1387A>T	19.37:g.33600724A>T	ENSP00000170564:p.Arg463Trp						p.R463W	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			11	1701	+	Esophageal squamous(110;0.137)		463					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1387A>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.125779	0.56721	.	.	ENSG00000076650	ENST00000170564	T	0.32272	1.46	5.74	-0.547	0.11836	.	0.449872	0.27117	N	0.020858	T	0.31702	0.0805	L	0.44542	1.39	0.24560	N	0.993976	D	0.58620	0.983	P	0.46049	0.502	T	0.43877	-0.9364	10	0.72032	D	0.01	-2.2724	18.1436	0.89648	0.2843:0.7157:0.0:0.0	.	463	Q9BRR8	GPTC1_HUMAN	W	463	ENSP00000170564:R463W	ENSP00000170564:R463W	R	+	1	2	GPATCH1	38292564	0.201000	0.23410	0.187000	0.23214	0.862000	0.49288	0.119000	0.15626	-0.492000	0.06687	-0.331000	0.08364	AGG		PASS	0.537	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		31	88	31	88	---	---	---	---
RBM42	79171	broad.mit.edu	37	19	36122095	36122095	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:36122095C>T	ENST00000262633.4	+	3	441	c.336C>T	c.(334-336)ccC>ccT	p.P112P	RBM42_ENST00000588161.1_Silent_p.P112P|RBM42_ENST00000586618.1_Silent_p.P112P|RBM42_ENST00000589871.1_Silent_p.P112P|RBM42_ENST00000592202.1_Silent_p.P112P|RBM42_ENST00000589559.1_Silent_p.P112P|RBM42_ENST00000360475.4_Silent_p.P112P	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P112P(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TAGTTCCTCCCATGGTGGGTG	0.587																																						uc002oan.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(334-336)CCC>CCT		RNA binding motif protein 42							106.0	98.0	100.0					19																	36122095		2203	4300	6503	SO:0001819	synonymous_variant	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36122095C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.336C>T	19.37:g.36122095C>T						RBM42_uc010xsx.1_Silent_p.P112P|RBM42_uc010eef.2_Silent_p.P112P|RBM42_uc002oao.2_Silent_p.P112P|RBM42_uc002oap.2_Silent_p.P112P|RBM42_uc002oaq.2_Silent_p.P112P|RBM42_uc010eeg.2_Silent_p.P112P	p.P112P	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	412	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		112					O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	c.336C>T	CCDS12468.1																																																																																				PASS	0.587	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		70	105	70	105	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38885282	38885282	+	Splice_Site	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:38885282G>T	ENST00000338502.4	+	4	526		c.e4-1		SPRED3_ENST00000587013.1_Splice_Site|SPRED3_ENST00000586301.1_Splice_Site	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)		p.?(1)		central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCTCCTCCAGTCCCACGTGG	0.677																																						uc002oim.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|lung(1)|skin(1)	4						c.e4-1		sprouty-related, EVH1 domain containing 3							7.0	10.0	9.0					19																	38885282		2104	4200	6304	SO:0001630	splice_region_variant	399473				multicellular organismal development			g.chr19:38885282G>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.424-1G>T	19.37:g.38885282G>T							p.S142_splice	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	428	+	all_cancers(60;3.4e-06)							Q2MJR1	Splice_Site	SNP	ENST00000338502.4	37	c.424_splice	CCDS42560.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524883	0.64747	.	.	ENSG00000188766	ENST00000338502	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1636	0.48531	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPRED3	43577122	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.415000	0.66411	1.751000	0.51876	0.313000	0.20887	.		PASS	0.677	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191	Intron	5	3	5	3	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41916685	41916685	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:41916685G>A	ENST00000269980.2	+	2	620	c.252G>A	c.(250-252)cgG>cgA	p.R84R	CTC-435M10.3_ENST00000540732.1_Silent_p.R118R|CTC-435M10.3_ENST00000604424.1_3'UTR|BCKDHA_ENST00000595085.1_Silent_p.R118R|BCKDHA_ENST00000457836.2_Silent_p.R62R	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	84					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)	p.R84R(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCATGGACCGGCAAGGCCAGA	0.632																																						uc002oqq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)CGG>CGA		branched chain keto acid dehydrogenase E1, alpha							62.0	64.0	63.0					19																	41916685		2203	4300	6503	SO:0001819	synonymous_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916685G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.252G>A	19.37:g.41916685G>A						CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R118R|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Silent_p.R84R|BCKDHA_uc010xvz.1_Silent_p.R62R	p.R84R	NM_000709	NP_000700	P12694	ODBA_HUMAN			2	281	+			84					B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	c.252G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.655937	0.29425	.	.	ENSG00000248098	ENST00000541315	.	.	.	5.4	-6.44	0.01920	.	.	.	.	.	T	0.36082	0.0954	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46843	-0.9162	4	.	.	.	-44.2263	2.3819	0.04357	0.1366:0.3278:0.2766:0.259	.	.	.	.	D	20	.	.	G	+	2	0	BCKDHA	46608525	0.109000	0.22037	0.993000	0.49108	0.998000	0.95712	-0.590000	0.05760	-0.323000	0.08602	0.643000	0.83706	GGC		PASS	0.632	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		4	146	4	146	---	---	---	---
ZNF574	64763	broad.mit.edu	37	19	42583881	42583881	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:42583881A>G	ENST00000600245.1	+	2	1778	c.1123A>G	c.(1123-1125)Aca>Gca	p.T375A	ZNF574_ENST00000222339.7_Missense_Mutation_p.T465A|ZNF574_ENST00000359044.4_Missense_Mutation_p.T375A|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	375					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.T375A(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCCTTCGGCACAGAGGCCCT	0.577																																						uc002osm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1123-1125)ACA>GCA		zinc finger protein 574							75.0	67.0	69.0					19																	42583881		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583881A>G	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1123A>G	19.37:g.42583881A>G	ENSP00000469029:p.Thr375Ala					ZNF574_uc002osk.3_Missense_Mutation_p.T465A	p.T375A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1292	+		Prostate(69;0.059)	375			C2H2-type 7.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1123A>G	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	a	17.43	3.387191	0.61956	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.46819	0.86;0.86	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.066570	0.56097	D	0.000021	T	0.47691	0.1459	L	0.47190	1.495	0.37179	D	0.903402	P;D	0.55800	0.8;0.973	B;P	0.50405	0.424;0.64	T	0.49312	-0.8953	10	0.16896	T	0.51	-10.0984	13.2957	0.60296	1.0:0.0:0.0:0.0	.	375;464	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	A	465;375	ENSP00000222339:T465A;ENSP00000351939:T375A	ENSP00000222339:T465A	T	+	1	0	ZNF574	47275721	0.068000	0.21057	1.000000	0.80357	0.939000	0.58152	2.692000	0.47018	1.971000	0.57363	0.524000	0.50904	ACA		PASS	0.577	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		9	106	9	106	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43441184	43441184	+	RNA	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:43441184C>G	ENST00000406070.2	-	0	141				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GGAGCCCTTTCCAGGTTATAT	0.567																																						uc002ovl.3																			0					0						c.(43-45)TGG>TGC		pregnancy specific beta-1-glycoprotein 7							88.0	85.0	86.0					19																	43441184		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43441184C>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441184C>G						PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.W15C	p.W15C	NM_002783	NP_002774	Q13046	PSG7_HUMAN			1	147	-		Prostate(69;0.00682)	15					Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.45G>C																																																																																					PASS	0.567	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		50	207	50	207	---	---	---	---
PNMAL1	55228	broad.mit.edu	37	19	46973039	46973039	+	Silent	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:46973039A>C	ENST00000313683.10	-	2	1559	c.1254T>G	c.(1252-1254)tcT>tcG	p.S418S	PNMAL1_ENST00000438932.2_Intron|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	418								p.S418S(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCGGACCCCTAGAGGTTGAGG	0.612																																						uc002peq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1252-1254)TCT>TCG		PNMA-like 1 isoform a							58.0	53.0	55.0					19																	46973039		2203	4300	6503	SO:0001819	synonymous_variant	55228							g.chr19:46973039A>C	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1254T>G	19.37:g.46973039A>C						PNMAL1_uc002per.3_Intron	p.S418S	NM_018215	NP_060685	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1560	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	418					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	c.1254T>G	CCDS33059.1																																																																																				PASS	0.612	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		21	24	21	24	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46998649	46998649	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:46998649C>A	ENST00000377655.2	-	1	73	c.74G>T	c.(73-75)gGc>gTc	p.G25V	AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000599531.1_Missense_Mutation_p.G25V|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	25								p.G25V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ctccgggatgccggtgaccag	0.662																																						uc002pes.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(73-75)GGC>GTC		PNMA-like 2							35.0	39.0	38.0					19																	46998649		2088	4207	6295	SO:0001583	missense	57469							g.chr19:46998649C>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.74G>T	19.37:g.46998649C>A	ENSP00000366883:p.Gly25Val					uc002peu.1_3'UTR	p.G25V	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	521	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	25					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.74G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.375729	0.82682	.	.	ENSG00000204851	ENST00000377655	T	0.45668	0.89	2.85	0.704	0.18121	.	.	.	.	.	T	0.52041	0.1710	L	0.60067	1.865	0.46609	D	0.99912	D	0.76494	0.999	D	0.72338	0.977	T	0.50800	-0.8785	9	0.87932	D	0	-23.8448	4.8222	0.13396	0.0:0.6999:0.0:0.3001	.	25	Q9ULN7	PNML2_HUMAN	V	25	ENSP00000366883:G25V	ENSP00000366883:G25V	G	-	2	0	PNMAL2	51690489	0.029000	0.19370	0.825000	0.32803	0.907000	0.53573	-0.145000	0.10265	0.247000	0.21414	0.650000	0.86243	GGC		PASS	0.662	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		13	56	13	56	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47575963	47575963	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:47575963G>A	ENST00000253048.5	-	12	1485	c.1448C>T	c.(1447-1449)gCc>gTc	p.A483V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	483							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A483V(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGCATCATCGGCCAACATCTG	0.562																																						uc002pga.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)	6						c.(1447-1449)GCC>GTC		zinc finger CCCH-type containing 4							26.0	25.0	26.0					19																	47575963		2010	4170	6180	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575963G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1448C>T	19.37:g.47575963G>A	ENSP00000253048:p.Ala483Val					ZC3H4_uc002pgb.1_Intron	p.A483V	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	12	1486	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	483					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1448C>T	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708529	0.48517	.	.	ENSG00000130749	ENST00000253048	T	0.39056	1.1	5.1	5.1	0.69264	.	0.211412	0.38897	N	0.001530	T	0.38321	0.1036	L	0.36672	1.1	0.80722	D	1	P	0.42456	0.78	B	0.40636	0.335	T	0.24799	-1.0150	10	0.48119	T	0.1	.	17.4593	0.87616	0.0:0.0:1.0:0.0	.	483	Q9UPT8	ZC3H4_HUMAN	V	483	ENSP00000253048:A483V	ENSP00000253048:A483V	A	-	2	0	ZC3H4	52267803	1.000000	0.71417	0.988000	0.46212	0.385000	0.30292	4.352000	0.59404	2.651000	0.90000	0.650000	0.86243	GCC		PASS	0.562	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			3	43	3	43	---	---	---	---
C5AR2	27202	broad.mit.edu	37	19	47844663	47844663	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:47844663A>G	ENST00000595464.1	+	2	825	c.607A>G	c.(607-609)Atc>Gtc	p.I203V	C5AR2_ENST00000257267.2_Missense_Mutation_p.I203V|C5AR2_ENST00000600626.1_Missense_Mutation_p.I203V	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	203					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.I203V(1)									GGTGACTGCCATCCGGTTTCT	0.692																																						uc010ela.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)ATC>GTC		G protein-coupled receptor 77							60.0	69.0	66.0					19																	47844663		2203	4300	6503	SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844663A>G	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.607A>G	19.37:g.47844663A>G	ENSP00000472620:p.Ile203Val					GPR77_uc002pgk.1_Missense_Mutation_p.I203V	p.I203V	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	825	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	203			Helical; Name=5; (Potential).		B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.607A>G	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.295430	0.01375	.	.	ENSG00000134830	ENST00000257267	T	0.37584	1.19	4.41	-8.71	0.00848	GPCR, rhodopsin-like superfamily (1);	1.350910	0.05033	N	0.474881	T	0.14485	0.0350	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	.	8.7743	0.34751	0.6152:0.1799:0.2049:0.0	.	203	Q9P296	C5ARL_HUMAN	V	203	ENSP00000257267:I203V	ENSP00000257267:I203V	I	+	1	0	GPR77	52536503	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.791000	0.00365	-2.613000	0.00444	-0.642000	0.03964	ATC		PASS	0.692	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		6	49	6	49	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51298356	51298356	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:51298356G>A	ENST00000270593.1	+	11	1222	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.G315R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	408						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)	p.G408R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTCAGCTTGGGGCTGGGCCT	0.687																																						uc002pta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)GGG>AGG		testicular acid phosphatase precursor							15.0	15.0	15.0					19																	51298356		2180	4269	6449	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51298356G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1222G>A	19.37:g.51298356G>A	ENSP00000270593:p.Gly408Arg						p.G408R	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	11	1222	+		all_neural(266;0.057)	408			Helical; (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.1222G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.164429	0.57476	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.12039	2.94;2.72	4.14	4.14	0.48551	.	0.433156	0.19513	N	0.112465	T	0.14013	0.0339	N	0.22421	0.69	0.33886	D	0.636712	P	0.51240	0.943	P	0.50708	0.648	T	0.15896	-1.0421	10	0.22706	T	0.39	-28.2717	12.3028	0.54884	0.0:0.0:1.0:0.0	.	408	Q9BZG2	PPAT_HUMAN	R	408;315	ENSP00000270593:G408R;ENSP00000270594:G315R	ENSP00000270593:G408R	G	+	1	0	ACPT	55990168	1.000000	0.71417	0.961000	0.40146	0.420000	0.31355	4.584000	0.60971	2.037000	0.60232	0.561000	0.74099	GGG		PASS	0.687	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		4	9	4	9	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303427	53303427	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:53303427C>T	ENST00000457749.2	-	4	1790	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E	ZNF28_ENST00000438150.2_Silent_p.E504E|ZNF28_ENST00000414252.2_Silent_p.E504E|ZNF28_ENST00000360272.4_Silent_p.E504E	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	557					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.E504E(2)|p.E557E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAAAACTTTCTCACATTCTT	0.398																																						uc002qad.2																			3	Substitution - coding silent(3)		lung(3)	skin(1)	1						c.(1669-1671)GAG>GAA		zinc finger protein 28							101.0	96.0	98.0					19																	53303427		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303427C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1671G>A	19.37:g.53303427C>T						ZNF28_uc002qac.2_Silent_p.E504E|ZNF28_uc010eqe.2_Silent_p.E503E	p.E557E	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1791	-			557			C2H2-type 13.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1671G>A	CCDS33093.2																																																																																				PASS	0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		92	154	92	154	---	---	---	---
ZNF28	7576	broad.mit.edu	37	19	53303938	53303938	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:53303938T>A	ENST00000457749.2	-	4	1279	c.1160A>T	c.(1159-1161)gAa>gTa	p.E387V	ZNF28_ENST00000438150.2_Missense_Mutation_p.E334V|ZNF28_ENST00000414252.2_Missense_Mutation_p.E334V|ZNF28_ENST00000360272.4_Missense_Mutation_p.E334V	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E334V(2)|p.E387V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTTTCACATTCTTCACATTC	0.388																																						uc002qad.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1159-1161)GAA>GTA		zinc finger protein 28							93.0	96.0	95.0					19																	53303938		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303938T>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1160A>T	19.37:g.53303938T>A	ENSP00000397693:p.Glu387Val					ZNF28_uc002qac.2_Missense_Mutation_p.E334V|ZNF28_uc010eqe.2_Missense_Mutation_p.E333V	p.E387V	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1280	-			387			C2H2-type 7.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1160A>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.665	0.685806	0.14973	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	1.75	-1.56	0.08532	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.04090	-0.28	0.09310	N	1	D	0.61697	0.99	D	0.76071	0.987	T	0.38520	-0.9657	9	0.44086	T	0.13	.	5.8198	0.18520	0.4199:0.0:0.0:0.5801	.	387	P17035	ZNF28_HUMAN	V	334;387;334;334;334	ENSP00000412143:E334V;ENSP00000397693:E387V;ENSP00000353410:E334V;ENSP00000444965:E334V;ENSP00000375661:E334V	ENSP00000353410:E334V	E	-	2	0	ZNF28	57995750	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.215000	0.09279	-0.706000	0.05028	0.165000	0.16767	GAA		PASS	0.388	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		100	189	100	189	---	---	---	---
MIR518A2	574491	broad.mit.edu	37	19	54242613	54242613	+	RNA	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:54242613A>T	ENST00000384966.1	+	0	27				MIR516B1_ENST00000385211.1_RNA|MIR517C_ENST00000385103.1_RNA	NR_030213.1				microRNA 518a-2																		TGCAAAGGGAAGCCCTTTCTG	0.433																																						hsa-mir-518a-2|MI0003173																			0					0															146.0	144.0	145.0					19																	54242613		1568	3582	5150			574491							g.chr19:54242613A>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54242613A>T						MIR517C_hsa-mir-517c|MI0003174_5'Flank										+									RNA	SNP	ENST00000384966.1	37	c.27A>T																																																																																					PASS	0.433	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		117	85	117	85	---	---	---	---
MIR516A1	574498	broad.mit.edu	37	19	54260071	54260071	+	RNA	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:54260071G>C	ENST00000385033.1	+	0	77				MIR1283-2_ENST00000408621.1_RNA|MIR527_ENST00000385244.1_RNA|AC011453.1_ENST00000583623.1_RNA	NR_030220.1				microRNA 516a-1																		CTTTCAGAGGGTTACGGTTTG	0.453																																						hsa-mir-516a-1|MI0003180																			0					0															121.0	111.0	114.0					19																	54260071		1568	3582	5150			574498							g.chr19:54260071G>C			19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207767	ENSG00000207767		"""ncRNAs / Micro RNAs"""	32130	non-coding RNA	RNA, micro			"""microRNA 516-1"""	MIRN516-1, MIRN516A1			Standard	NR_030220		Approved	hsa-mir-516-1, hsa-mir-516a-1	uc021vaw.1				19.37:g.54260071G>C						MIR1283-2_hsa-mir-1283-2|MI0006430_5'Flank										+									RNA	SNP	ENST00000385033.1	37	c.77G>C																																																																																					PASS	0.453	MIR516A1-201	KNOWN	basic	miRNA	miRNA		NR_030220		108	86	108	86	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56701832	56701832	+	Missense_Mutation	SNP	G	G	T	rs370255759		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:56701832G>T	ENST00000586855.2	-	5	1165	c.852C>A	c.(850-852)agC>agA	p.S284R	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.S284R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	284					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.S284R(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTGTTCCCGCTGTGAGTCA	0.522																																						uc010ygh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(850-852)AGC>AGA		zinc finger and SCAN domain containing 5B							163.0	158.0	160.0					19																	56701832		2203	4300	6503	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701832G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.852C>A	19.37:g.56701832G>T	ENSP00000466072:p.Ser284Arg						p.S284R	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	852	-			284						Missense_Mutation	SNP	ENST00000586855.2	37	c.852C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	7.618	0.676239	0.14841	.	.	ENSG00000197213	ENST00000358992	T	0.06218	3.33	1.86	-3.72	0.04411	.	.	.	.	.	T	0.14013	0.0339	M	0.69823	2.125	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.05037	-1.0910	9	0.24483	T	0.36	.	1.4907	0.02456	0.2568:0.1729:0.3992:0.1712	.	284	A6NJL1	ZSA5B_HUMAN	R	284	ENSP00000351883:S284R	ENSP00000351883:S284R	S	-	3	2	ZSCAN5B	61393644	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.915000	0.04033	-1.702000	0.01411	-0.683000	0.03753	AGC		PASS	0.522	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		75	277	75	277	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175947	57175947	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:57175947G>A	ENST00000537055.2	-	2	851	c.620C>T	c.(619-621)aCg>aTg	p.T207M		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	207					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.T229M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTCAGGTGCGTGACGCGCGT	0.721																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(685-687)ACG>ATG		zinc finger protein 835							15.0	17.0	16.0					19																	57175947		2163	4197	6360	SO:0001583	missense	90485							g.chr19:57175947G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.620C>T	19.37:g.57175947G>A	ENSP00000444747:p.Thr207Met					ZNF835_uc010ygn.1_Missense_Mutation_p.T207M	p.T229M	NM_001005850	NP_001005850					2	686	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.686C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207524	0.39003	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07800	3.16	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18509	0.0444	M	0.70842	2.15	0.09310	N	1	D	0.67145	0.996	P	0.53649	0.731	T	0.05146	-1.0903	9	0.72032	D	0.01	.	10.2869	0.43573	0.0:0.0:1.0:0.0	.	229	Q9Y2P0	ZN835_HUMAN	M	229;207	ENSP00000444747:T207M	ENSP00000341756:T229M	T	-	2	0	ZNF835	61867759	0.000000	0.05858	0.002000	0.10522	0.644000	0.38419	-0.119000	0.10676	1.506000	0.48736	0.561000	0.74099	ACG		PASS	0.721	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		6	10	6	10	---	---	---	---
ZNF497	162968	broad.mit.edu	37	19	58867836	58867836	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr19:58867836G>A	ENST00000311044.3	-	3	1354	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A389V	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A389V(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGCAGTCGGCGCAGGCGAA	0.706																																						uc002qsh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1165-1167)GCC>GTC		zinc finger protein 497							5.0	5.0	5.0					19																	58867836		2106	4141	6247	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867836G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1166C>T	19.37:g.58867836G>A	ENSP00000311183:p.Ala389Val					A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A389V|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	p.A389V	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1355	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	389			C2H2-type 11.		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1166C>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110671	0.20714	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.17691	2.26;2.26	0.658	0.658	0.17855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10508	0.0257	N	0.11756	0.17	0.09310	N	1	P	0.35656	0.514	B	0.40329	0.326	T	0.30001	-0.9993	9	0.56958	D	0.05	.	5.6325	0.17518	0.0:0.0:0.6846:0.3154	.	389	Q6ZNH5	ZN497_HUMAN	V	389;389;178	ENSP00000311183:A389V;ENSP00000402815:A389V	ENSP00000311183:A389V	A	-	2	0	ZNF497	63559648	0.000000	0.05858	0.030000	0.17652	0.089000	0.18198	-0.128000	0.10531	0.613000	0.30089	0.205000	0.17691	GCC		PASS	0.706	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		3	6	3	6	---	---	---	---
TMX4	56255	broad.mit.edu	37	20	7963243	7963243	+	Silent	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:7963243A>T	ENST00000246024.2	-	8	920	c.705T>A	c.(703-705)gcT>gcA	p.A235A		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	235	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.A235A(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CAGCTCTATGAGCCTCCTCTG	0.408																																						uc002wmx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(703-705)GCT>GCA		thioredoxin-related transmembrane protein 4							67.0	58.0	61.0					20																	7963243		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963243A>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.705T>A	20.37:g.7963243A>T							p.A235A	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			8	838	-			235			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.705T>A	CCDS13101.1																																																																																				PASS	0.408	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		59	123	59	123	---	---	---	---
DZANK1	55184	broad.mit.edu	37	20	18433327	18433327	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:18433327C>A	ENST00000358866.6	-	5	498		c.e5-1		DZANK1_ENST00000262547.5_Splice_Site|DZANK1_ENST00000487128.1_Splice_Site|DZANK1_ENST00000329494.5_Splice_Site|DZANK1_ENST00000357236.4_Splice_Site			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1								zinc ion binding (GO:0008270)	p.?(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AATGGACTCTCTGAAAAGTGA	0.408																																						uc010zsa.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.(532-534)GAG>TAG		hypothetical protein LOC55184							56.0	56.0	56.0					20																	18433327		1843	4077	5920	SO:0001630	splice_region_variant	55184					intracellular	zinc ion binding	g.chr20:18433327C>A	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.476-1G>T	20.37:g.18433327C>A						C20orf12_uc002wqr.3_Splice_Site|C20orf12_uc002wqs.3_Splice_Site_p.R9_splice|C20orf12_uc002wqq.3_Splice_Site_p.E159_splice|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron	p.E178*	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN			6	741	-		Myeloproliferative disorder(85;0.0122)	Error:Variant_position_missing_in_Q9NVP4_after_alignment					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Nonsense_Mutation	SNP	ENST00000358866.6	37	c.532G>T	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449462	0.12223	.	.	ENSG00000089091	ENST00000262547;ENST00000329494;ENST00000357236	.	.	.	5.39	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.99993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8937	0.01259	0.1702:0.4071:0.1655:0.2573	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf12	18381327	0.834000	0.29399	0.285000	0.24819	0.433000	0.31745	1.064000	0.30579	0.242000	0.21303	0.455000	0.32223	.		PASS	0.408	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	Intron	13	28	13	28	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20232401	20232401	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:20232401G>C	ENST00000245957.5	+	20	2398	c.2322G>C	c.(2320-2322)caG>caC	p.Q774H	C20orf26_ENST00000377309.2_Missense_Mutation_p.Q130H|C20orf26_ENST00000389656.3_Missense_Mutation_p.Q130H|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q130H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		774								p.Q774H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGGGCAGCAGTACCAGGTAA	0.582																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2320-2322)CAG>CAC		hypothetical protein LOC26074							73.0	64.0	67.0					20																	20232401		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20232401G>C																												ENST00000245957.5:c.2322G>C	20.37:g.20232401G>C	ENSP00000245957:p.Gln774His					C20orf26_uc010zse.1_Missense_Mutation_p.Q754H|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.Q130H	p.Q774H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2398	+			774					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2322G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942530	0.73672	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.75	3.78	0.43462	.	0.201968	0.45361	D	0.000366	T	0.54663	0.1872	M	0.76170	2.325	0.38011	D	0.934538	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.984;0.98	T	0.61831	-0.6982	10	0.87932	D	0	.	7.2602	0.26199	0.2126:0.1392:0.6482:0.0	.	754;130;774	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	H	714;130;130;754;774;130	ENSP00000366524:Q130H;ENSP00000374307:Q130H;ENSP00000245957:Q774H;ENSP00000366508:Q130H	ENSP00000245957:Q774H	Q	+	3	2	C20orf26	20180401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.094000	0.30951	1.555000	0.49500	0.650000	0.86243	CAG		PASS	0.582	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			46	104	46	104	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33874542	33874542	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:33874542C>A	ENST00000374408.3	-	4	2136	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	680								p.L680L(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGATGAGGTCCAGCTTGCTGT	0.617																																						uc010zux.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2038-2040)CTG>CTT		hypothetical protein LOC128876							76.0	69.0	71.0					20																	33874542		2203	4300	6503	SO:0001819	synonymous_variant	128876							g.chr20:33874542C>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2040G>T	20.37:g.33874542C>A						EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L335L	p.L680L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	2158	-			680					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.2040G>T	CCDS13251.1																																																																																				PASS	0.617	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			28	101	28	101	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43850949	43850949	+	Missense_Mutation	SNP	G	G	A	rs368513832		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:43850949G>A	ENST00000372769.3	+	2	766	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	226	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.V226M(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTGGTTGACGTGAGAGAGGA	0.378																																						uc010ggz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(676-678)GTG>ATG		semenogelin II precursor		G	MET/VAL	0,4406		0,0,2203	120.0	112.0	114.0		676	-1.8	0.0	20		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEMG2	NM_003008.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	226/583	43850949	1,13005	2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850949G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.676G>A	20.37:g.43850949G>A	ENSP00000361855:p.Val226Met					SEMG2_uc002xnk.2_Missense_Mutation_p.V226M|SEMG2_uc002xnl.2_Missense_Mutation_p.V226M	p.V226M	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	733	+		Myeloproliferative disorder(115;0.0122)	226			2-2.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.676G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014679	0.07959	0.0	1.16E-4	ENSG00000124157	ENST00000372769	T	0.08807	3.05	1.38	-1.78	0.07957	.	.	.	.	.	T	0.05593	0.0147	L	0.43152	1.355	0.09310	N	1	P;B;B	0.36577	0.558;0.203;0.203	B;B;B	0.29524	0.103;0.031;0.031	T	0.29671	-1.0004	9	0.44086	T	0.13	.	4.3487	0.11144	0.5134:0.0:0.4866:0.0	.	226;226;226	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	M	226	ENSP00000361855:V226M	ENSP00000361855:V226M	V	+	1	0	SEMG2	43284363	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.095000	0.11077	-0.407000	0.07576	-0.290000	0.09829	GTG		PASS	0.378	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		66	167	66	167	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44048147	44048147	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:44048147G>T	ENST00000279036.6	+	5	678	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	PIGT_ENST00000372689.5_Missense_Mutation_p.G200C|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000535404.1_Missense_Mutation_p.G45C|PIGT_ENST00000545755.1_5'UTR|PIGT_ENST00000279035.9_Missense_Mutation_p.G98C|PIGT_ENST00000543458.2_Missense_Mutation_p.G144C	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	200					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.G200C(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCTCCAGGCAGGCCTCTCTGT	0.587																																						uc002xoh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(598-600)GGC>TGC		phosphatidylinositol glycan anchor biosynthesis,							131.0	129.0	129.0					20																	44048147		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44048147G>T		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.598G>T	20.37:g.44048147G>T	ENSP00000279036:p.Gly200Cys					PIGT_uc010ghb.1_Missense_Mutation_p.G190C|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Missense_Mutation_p.G107C|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.G163C|PIGT_uc010ghf.1_Missense_Mutation_p.G153C|PIGT_uc002xoj.1_Missense_Mutation_p.G200C|PIGT_uc002xok.1_Splice_Site_p.G165_splice|PIGT_uc010zwu.1_Translation_Start_Site|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Translation_Start_Site|PIGT_uc010zww.1_Missense_Mutation_p.G144C|PIGT_uc010zwx.1_Missense_Mutation_p.G35C|PIGT_uc010zwy.1_Missense_Mutation_p.G98C|PIGT_uc010zwz.1_Translation_Start_Site|PIGT_uc010zxa.1_Missense_Mutation_p.G38C|PIGT_uc002xol.1_Missense_Mutation_p.G56C|PIGT_uc010zxb.1_5'Flank	p.G200C	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			5	671	+		Myeloproliferative disorder(115;0.0122)	200			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.598G>T	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232746	0.95207	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000535404	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.92319	0.5864	10	0.87932	D	0	-35.9576	19.8676	0.96824	0.0:0.0:1.0:0.0	.	38;98;45;144;56;200	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;Q969N2-3;Q969N2	.;.;.;.;.;PIGT_HUMAN	C	144;200;98;200;98;45	ENSP00000441577:G144C;ENSP00000361774:G200C;ENSP00000279035:G98C;ENSP00000279036:G200C;ENSP00000407574:G98C;ENSP00000440528:G45C	ENSP00000279035:G98C	G	+	1	0	PIGT	43481561	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.455000	0.97625	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.587	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		103	203	103	203	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44639932	44639932	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:44639932G>C	ENST00000372330.3	+	5	819	c.800G>C	c.(799-801)cGg>cCg	p.R267P	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	267	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R267P(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	ACCGACGACCGGTTTGGCTTC	0.652																																						uc002xqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(799-801)CGG>CCG		matrix metalloproteinase 9 preproprotein	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						50.0	53.0	52.0					20																	44639932		2202	4299	6501	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639932G>C		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.800G>C	20.37:g.44639932G>C	ENSP00000361405:p.Arg267Pro						p.R267P	NM_004994	NP_004985	P14780	MMP9_HUMAN			5	819	+		Myeloproliferative disorder(115;0.0122)	267			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.800G>C	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178492	0.38511	.	.	ENSG00000100985	ENST00000372330	T	0.51071	0.72	4.56	-4.61	0.03380	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.777035	0.11934	N	0.515458	T	0.38852	0.1056	L	0.52573	1.65	0.09310	N	1	P	0.49559	0.925	P	0.45971	0.499	T	0.38373	-0.9664	10	0.87932	D	0	.	5.7531	0.18158	0.7196:0.092:0.0963:0.0921	.	267	P14780	MMP9_HUMAN	P	267	ENSP00000361405:R267P	ENSP00000361405:R267P	R	+	2	0	MMP9	44073339	0.016000	0.18221	0.002000	0.10522	0.179000	0.23085	0.770000	0.26618	-0.467000	0.06932	-0.157000	0.13467	CGG		PASS	0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			47	102	47	102	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47886894	47886894	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:47886894G>A	ENST00000396105.1	-	3	1701	c.1455C>T	c.(1453-1455)tgC>tgT	p.C485C	ZNFX1_ENST00000371752.1_Silent_p.C485C|ZNFX1_ENST00000371754.4_Silent_p.C485C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	485							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C485C(2)|p.C289C(1)		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)			GCTCATTGAAGCAGAGCTGGA	0.502																																						uc002xui.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(1453-1455)TGC>TGT		zinc finger, NFX1-type containing 1							94.0	90.0	91.0					20																	47886894		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47886894G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1455C>T	20.37:g.47886894G>A							p.C485C	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1702	-			485					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.1455C>T	CCDS13417.1																																																																																				PASS	0.502	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		18	273	18	273	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50273654	50273654	+	Silent	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:50273654C>A	ENST00000338821.5	-	14	1593	c.1329G>T	c.(1327-1329)acG>acT	p.T443T	ATP9A_ENST00000311637.5_Silent_p.T307T|ATP9A_ENST00000402822.1_Silent_p.T322T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T443T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TAGTGGTGAGCGTTGGGCCCT	0.577																																						uc002xwg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1327-1329)ACG>ACT		ATPase, class II, type 9A							60.0	54.0	56.0					20																	50273654		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50273654C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1329G>T	20.37:g.50273654C>A						ATP9A_uc010gih.1_Silent_p.T307T|ATP9A_uc002xwf.1_Intron	p.T443T	NM_006045	NP_006036	O75110	ATP9A_HUMAN			14	1329	-			443			Cytoplasmic (Potential).		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1329G>T	CCDS33489.1																																																																																				PASS	0.577	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		22	69	22	69	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51871519	51871519	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:51871519G>C	ENST00000371497.5	+	2	2409	c.1522G>C	c.(1522-1524)Gat>Cat	p.D508H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D505H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D505H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	508					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D508H(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACTTGGAAGATGGCTCAAA	0.458																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1522-1524)GAT>CAT		teashirt zinc finger homeobox 2							63.0	68.0	67.0					20																	51871519		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871519G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1522G>C	20.37:g.51871519G>C	ENSP00000360552:p.Asp508His						p.D508H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2478	+			508					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1522G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254493	0.59212	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.31247	1.5;1.5	5.95	5.95	0.96441	.	0.101518	0.64402	D	0.000002	T	0.54515	0.1863	M	0.66939	2.045	0.58432	D	0.999995	D	0.71674	0.998	P	0.61397	0.888	T	0.53599	-0.8416	10	0.87932	D	0	-14.7202	20.3655	0.98876	0.0:0.0:1.0:0.0	.	508	Q9NRE2	TSH2_HUMAN	H	508;505;34	ENSP00000360552:D508H;ENSP00000333114:D505H	ENSP00000333114:D505H	D	+	1	0	TSHZ2	51304926	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.987000	0.76206	2.822000	0.97130	0.643000	0.83706	GAT		PASS	0.458	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		50	137	50	137	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55033731	55033731	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:55033731G>T	ENST00000360314.3	+	7	2514	c.2289G>T	c.(2287-2289)gcG>gcT	p.A763A	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Silent_p.A326A|CASS4_ENST00000371336.3_Silent_p.A763A	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	763					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.A763A(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCCTGCCGCGCTGGGGCACC	0.637																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2287-2289)GCG>GCT		HEF-like protein isoform a							44.0	36.0	39.0					20																	55033731		2203	4299	6502	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033731G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2289G>T	20.37:g.55033731G>T						CASS4_uc002xxr.2_Silent_p.A763A|CASS4_uc010zze.1_Silent_p.A709A|CASS4_uc010gio.2_Silent_p.A326A	p.A763A	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			7	2514	+			763					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.2289G>T	CCDS33492.1																																																																																				PASS	0.637	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		6	39	6	39	---	---	---	---
BIRC7	79444	broad.mit.edu	37	20	61867797	61867797	+	Splice_Site	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:61867797G>T	ENST00000217169.3	+	1	563	c.349G>T	c.(349-351)Ggc>Tgc	p.G117C	BIRC7_ENST00000342412.6_Splice_Site_p.G117C|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	117					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G117C(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CTTCCACACAGGTCAGTCCCG	0.667																																						uc002yej.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(349-351)GGC>TGC		livin inhibitor of apoptosis isoform alpha							19.0	22.0	21.0					20																	61867797		2191	4274	6465	SO:0001630	splice_region_variant	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61867797G>T	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.349+1G>T	20.37:g.61867797G>T						BIRC7_uc010gkc.1_Missense_Mutation_p.G117C|BIRC7_uc002yei.2_Missense_Mutation_p.G117C|hsa-mir-3196|MI0014241_5'Flank	p.G117C	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN			1	522	+	all_cancers(38;2.72e-09)		117			BIR.		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.349G>T	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192855	0.58017	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.06371	3.31;3.31	4.34	3.37	0.38596	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.41097	D	0.000959	T	0.37461	0.1004	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.56667	-0.7941	10	0.87932	D	0	.	12.5223	0.56067	0.0854:0.0:0.9146:0.0	.	117;117;117	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	C	117	ENSP00000345213:G117C;ENSP00000217169:G117C	ENSP00000217169:G117C	G	+	1	0	BIRC7	61338242	1.000000	0.71417	0.194000	0.23346	0.314000	0.28054	5.677000	0.68142	0.912000	0.36772	0.655000	0.94253	GGC		PASS	0.667	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317	Missense_Mutation	25	36	25	36	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62839118	62839118	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr20:62839118C>A	ENST00000328439.1	+	7	933	c.569C>A	c.(568-570)cCa>cAa	p.P190Q	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.P190Q	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P190Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCGGCCAAGCCAGGTCCTGGC	0.587																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(568-570)CCA>CAA		myelin transcription factor 1							52.0	53.0	53.0					20																	62839118		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839118C>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.569C>A	20.37:g.62839118C>A	ENSP00000327465:p.Pro190Gln					MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	p.P190Q	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	933	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		190					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.569C>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	c	0.768	-0.766650	0.02974	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.40225	1.06;1.04	4.34	-1.7	0.08159	.	11.163000	0.00166	N	0.000016	T	0.31071	0.0785	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02868	-1.1100	10	0.14252	T	0.57	0.9639	0.1777	0.00120	0.3065:0.2372:0.2188:0.2375	.	190	Q01538	MYT1_HUMAN	Q	190	ENSP00000327465:P190Q;ENSP00000442412:P190Q	ENSP00000327465:P190Q	P	+	2	0	MYT1	62309562	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.485000	0.22324	-0.716000	0.04962	0.552000	0.68991	CCA		PASS	0.587	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		42	32	42	32	---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31709843	31709843	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr21:31709843G>T	ENST00000382835.2	-	1	169	c.144C>A	c.(142-144)gaC>gaA	p.D48E		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	48						intermediate filament (GO:0005882)		p.D48E(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTTGAAAGTTGTCCAGGAAAC	0.463																																						uc002ynx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(142-144)GAC>GAA		keratin associated protein 27-1							157.0	148.0	151.0					21																	31709843		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709843G>T	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.144C>A	21.37:g.31709843G>T	ENSP00000372286:p.Asp48Glu						p.D48E	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	170	-			48						Missense_Mutation	SNP	ENST00000382835.2	37	c.144C>A	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	G	5.630	0.300872	0.10678	.	.	ENSG00000206107	ENST00000382835	T	0.03951	3.75	4.34	0.45	0.16624	.	0.187768	0.35291	N	0.003316	T	0.06826	0.0174	M	0.81112	2.525	0.26151	N	0.980145	P	0.45212	0.853	B	0.40901	0.343	T	0.21245	-1.0251	10	0.72032	D	0.01	-5.489	3.2459	0.06797	0.3041:0.0:0.5111:0.1848	.	48	Q3LI81	KR271_HUMAN	E	48	ENSP00000372286:D48E	ENSP00000372286:D48E	D	-	3	2	KRTAP27-1	30631714	0.997000	0.39634	0.571000	0.28486	0.055000	0.15305	0.288000	0.18939	0.073000	0.16731	0.591000	0.81541	GAC		PASS	0.463	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		21	214	21	214	---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38460573	38460573	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr21:38460573A>G	ENST00000399017.2	+	4	3012	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.I89V|TTC3_ENST00000399010.1_Missense_Mutation_p.I89V|TTC3_ENST00000354749.2_Missense_Mutation_p.I89V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	89					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I89V(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAAAATAAACATCTTCTGGCC	0.343																																					Ovarian(38;194 1649 35661)	uc002yvz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(265-267)ATC>GTC		tetratricopeptide repeat domain 3							113.0	100.0	105.0					21																	38460573		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38460573A>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.265A>G	21.37:g.38460573A>G	ENSP00000381981:p.Ile89Val					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.I89V|TTC3_uc002ywb.2_Missense_Mutation_p.I89V|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.I89V	p.I89V	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			4	370	+		Myeloproliferative disorder(46;0.0412)	89					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.265A>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788237	0.31593	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.51817	2.51;0.69;2.59;2.83;2.83;2.83	4.82	-4.86	0.03132	.	0.514424	0.17218	N	0.182446	T	0.27559	0.0677	L	0.34521	1.04	0.23994	N	0.996231	B	0.06786	0.001	B	0.06405	0.002	T	0.07328	-1.0778	10	0.33940	T	0.23	-0.6545	6.6161	0.22778	0.5341:0.1227:0.3432:0.0	.	89	P53804	TTC3_HUMAN	V	89	ENSP00000403943:I89V;ENSP00000408456:I89V;ENSP00000391891:I89V;ENSP00000347889:I89V;ENSP00000381981:I89V;ENSP00000346791:I89V	ENSP00000346791:I89V	I	+	1	0	TTC3	37382443	0.009000	0.17119	0.003000	0.11579	0.982000	0.71751	-0.016000	0.12613	-1.127000	0.02925	0.455000	0.32223	ATC		PASS	0.343	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			7	163	7	163	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42647528	42647528	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr21:42647528C>T	ENST00000330333.6	+	9	1997	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_Silent_p.L462L|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	512					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.L512L(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAGTCCTCTCTGGTCAGACA	0.552																																						uc002yyw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1534-1536)CTG>TTG		beta-site APP-cleaving enzyme 2 isoform A							117.0	98.0	105.0					21																	42647528		2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647528C>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1534C>T	21.37:g.42647528C>T						BACE2_uc002yyx.2_Silent_p.L462L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	p.L512L	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN			9	1997	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	512			Cytoplasmic (Potential).		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1534C>T	CCDS13668.1																																																																																				PASS	0.552	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			56	120	56	120	---	---	---	---
KRTAP12-3	386683	broad.mit.edu	37	21	46078016	46078016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr21:46078016C>A	ENST00000397907.1	+	1	168	c.120C>A	c.(118-120)tgC>tgA	p.C40*	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	40	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.C40*(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGTGAGCTGCACGCGCATTG	0.642																																						uc002zft.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(118-120)TGC>TGA		keratin associated protein 12-3							97.0	111.0	106.0					21																	46078016		2188	4270	6458	SO:0001587	stop_gained	386683					intermediate filament		g.chr21:46078016C>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.120C>A	21.37:g.46078016C>A	ENSP00000381005:p.Cys40*					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C40*	NM_198697	NP_941970	P60328	KR123_HUMAN			1	168	+			40			14 X 5 AA approximate repeats.			Nonsense_Mutation	SNP	ENST00000397907.1	37	c.120C>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	N	15.28	2.786739	0.49997	.	.	ENSG00000205439	ENST00000397907	.	.	.	4.31	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.50313	D	0.999867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6387	0.22897	0.0:0.6822:0.0:0.3178	.	.	.	.	X	40	.	ENSP00000381005:C40X	C	+	3	2	KRTAP12-3	44902444	0.003000	0.15002	0.133000	0.22050	0.012000	0.07955	0.025000	0.13577	0.456000	0.26937	-0.459000	0.05422	TGC		PASS	0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			108	70	108	70	---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21347115	21347116	+	Missense_Mutation	DNP	TG	TG	CT	rs373591504		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:21347115_21347116TG>CT	ENST00000215739.8	+	11	1541_1542	c.1182_1183TG>CT	c.(1180-1185)gcTGtc>gcCTtc	p.V395F	LZTR1_ENST00000389355.3_Missense_Mutation_p.V376F|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	395					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V395F(2)|p.A394A(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGCGGCTGCTGTCATCTCGGA	0.644																																						uc002zto.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|lung(2)	4						c.(1180-1182)GCT>GCC|c.(1183-1185)GTC>TTC		leucine-zipper-like transcription regulator 1																																				SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21347115T>C|g.chr22:21347116G>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	Exception_encountered	22.37:g.21347115_21347116delinsCT	ENSP00000215739:p.Val395Phe					LZTR1_uc002ztn.2_Silent_p.A353A|LZTR1_uc011ahy.1_Silent_p.A375A|LZTR1_uc010gsr.1_Silent_p.A265A|LZTR1_uc002ztn.2_Missense_Mutation_p.V354F|LZTR1_uc011ahy.1_Missense_Mutation_p.V376F|LZTR1_uc010gsr.1_Missense_Mutation_p.V266F	p.A394A|p.V395F	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		11	1285|1286	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	394|395					Q14776|Q20WK0	Silent|Missense_Mutation	SNP	ENST00000215739.8	37	c.1182T>C|c.1183G>T	CCDS33606.1																																																																																				PASS	0.644	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	7	6	7	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32302363	32302363	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:32302363G>T	ENST00000382111.2	+	41	4691	c.4631G>T	c.(4630-4632)gGg>gTg	p.G1544V	DEPDC5_ENST00000400248.2_Silent_p.G1533G|DEPDC5_ENST00000539165.1_Silent_p.G381G|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1544V|DEPDC5_ENST00000535622.1_Silent_p.G1464G|DEPDC5_ENST00000266091.3_Silent_p.G1542G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1555G|DEPDC5_ENST00000400249.2_Silent_p.G1533G			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.G1533G(1)|p.G1464G(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCGCCACAGGGGATGAAAAGT	0.562																																						uc003als.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4597-4599)GGG>GGT		DEP domain containing 5 isoform 1							123.0	129.0	127.0					22																	32302363		2048	4204	6252	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32302363G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382111.2:c.4631G>T	22.37:g.32302363G>T	ENSP00000371545:p.Gly1544Val					DEPDC5_uc011als.1_Silent_p.G1464G|DEPDC5_uc011alu.1_Silent_p.G1564G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.G1555G|DEPDC5_uc003alu.2_Silent_p.G982G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.G831G|DEPDC5_uc011alx.1_Silent_p.G381G|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.G569*|DEPDC5_uc011aly.1_Silent_p.G381G	p.G1533G	NM_014662	NP_055477	O75140	DEPD5_HUMAN			42	4741	+			1533					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382111.2	37	c.4599G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.50|10.50	1.368716|1.368716	0.24771|0.24771	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000400246;ENST00000382111|ENST00000433147	T;T|.	0.24723|.	1.84;1.84|.	4.97|4.97	-3.08|-3.08	0.05347|0.05347	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|.	0.60996|.	0.2312|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63897|.	-0.6533|.	7|.	0.87932|0.56958	D|D	0|0.05	.|.	10.0756|10.0756	0.42358|0.42358	0.1979:0.5489:0.2531:0.0|0.1979:0.5489:0.2531:0.0	.|.	.|.	.|.	.|.	V|X	1544|940	ENSP00000383105:G1544V;ENSP00000371545:G1544V|.	ENSP00000371545:G1544V|ENSP00000410544:G940X	G|G	+|+	2|1	0|0	DEPDC5|DEPDC5	30632363|30632363	0.029000|0.029000	0.19370|0.19370	0.835000|0.835000	0.33067|0.33067	0.950000|0.950000	0.60333|0.60333	-0.816000|-0.816000	0.04477|0.04477	-0.030000|-0.030000	0.13804|0.13804	0.448000|0.448000	0.29417|0.29417	GGG|GGA		PASS	0.562	DEPDC5-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000129085.1	NM_014662		75	86	75	86	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33700389	33700389	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:33700389C>A	ENST00000354992.2	-	13	2127	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V	LARGE_ENST00000337431.2_Missense_Mutation_p.G467V|LARGE_ENST00000402320.1_Missense_Mutation_p.G467V|LARGE_ENST00000397394.2_Missense_Mutation_p.G519V|LARGE_ENST00000437602.2_Missense_Mutation_p.G519V|LARGE_ENST00000452586.2_Missense_Mutation_p.G318V	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	519					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.G519V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CACCTCAGAGCCCTGTGCGTA	0.627																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1555-1557)GGC>GTC		like-glycosyltransferase							97.0	79.0	85.0					22																	33700389		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700389C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1556G>T	22.37:g.33700389C>A	ENSP00000347088:p.Gly519Val					LARGE_uc011amd.1_Missense_Mutation_p.G318V|LARGE_uc003ane.3_Missense_Mutation_p.G519V|LARGE_uc010gwp.2_Missense_Mutation_p.G467V|LARGE_uc011ame.1_Missense_Mutation_p.G451V|LARGE_uc011amf.1_Missense_Mutation_p.G519V	p.G519V	NM_004737	NP_004728	O95461	LARGE_HUMAN			13	2135	-		Lung NSC(1;0.219)	519			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1556G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689570	0.48097	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.52983	1.1;1.12;1.1;1.12;0.64;2.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.28258	0.205;0.005;0.082;0.205	B;B;B;B	0.32090	0.14;0.015;0.037;0.098	T	0.46693	-0.9173	10	0.40728	T	0.16	-28.7083	19.3156	0.94211	0.0:1.0:0.0:0.0	.	519;318;467;519	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	V	196;196;519;467;519;467;318;519	ENSP00000347088:G519V;ENSP00000336636:G467V;ENSP00000380549:G519V;ENSP00000385223:G467V;ENSP00000407917:G318V;ENSP00000388544:G519V	ENSP00000336636:G467V	G	-	2	0	LARGE	32030389	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.245000	0.43133	2.567000	0.86603	0.655000	0.94253	GGC		PASS	0.627	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		46	54	46	54	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119338	38119338	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:38119338G>A	ENST00000406386.3	+	7	1030	c.775G>A	c.(775-777)Gct>Act	p.A259T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	259					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.A259T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACGTCTCAGGCTTCTCCTGC	0.617																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(775-777)GCT>ACT		TRIO and F-actin binding protein isoform 6							66.0	77.0	73.0					22																	38119338		2129	4240	6369	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119338G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.775G>A	22.37:g.38119338G>A	ENSP00000384312:p.Ala259Thr					TRIOBP_uc003atu.2_Missense_Mutation_p.A87T|TRIOBP_uc003atq.1_Missense_Mutation_p.A259T|TRIOBP_uc003ats.1_Missense_Mutation_p.A87T	p.A259T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1046	+	Melanoma(58;0.0574)		259					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.775G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803449	0.16397	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.25250	1.81	3.24	2.22	0.28083	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.50039	D	0.999845	B	0.12630	0.006	B	0.09377	0.004	T	0.10474	-1.0628	9	0.30078	T	0.28	.	8.3149	0.32093	0.1218:0.0:0.8782:0.0	.	259	Q9H2D6	TARA_HUMAN	T	259	ENSP00000384312:A259T	ENSP00000384312:A259T	A	+	1	0	TRIOBP	36449284	0.205000	0.23458	0.784000	0.31847	0.003000	0.03518	-0.132000	0.10467	0.594000	0.29761	-0.464000	0.05259	GCT		PASS	0.617	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	70	7	70	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	39996543	39996543	+	Missense_Mutation	SNP	T	T	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:39996543T>G	ENST00000402142.3	+	3	367	c.367T>G	c.(367-369)Ttt>Gtt	p.F123V	CACNA1I_ENST00000336649.4_Missense_Mutation_p.F123V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F123V|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F123V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F123V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F123V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	123					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F123V(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACTTCATCTTTATCTTCTT	0.557																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(367-369)TTT>GTT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						88.0	86.0	87.0					22																	39996543		1968	4169	6137	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39996543T>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.367T>G	22.37:g.39996543T>G	ENSP00000385019:p.Phe123Val					CACNA1I_uc003ayd.2_Missense_Mutation_p.F123V|CACNA1I_uc003aye.2_Missense_Mutation_p.F38V|CACNA1I_uc003ayf.2_Missense_Mutation_p.F38V	p.F123V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			3	367	+	Melanoma(58;0.0749)		123			I.|Helical; Name=S2 of repeat I; (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.367T>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240397	0.79912	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	4.8	4.8	0.61643	Ion transport (1);	0.197747	0.47093	D	0.000247	D	0.97666	0.9235	M	0.70903	2.155	0.53005	D	0.999961	P;P;P;D	0.53619	0.49;0.849;0.948;0.961	B;B;P;P	0.53224	0.264;0.438;0.547;0.721	D	0.97520	1.0072	10	0.45353	T	0.12	.	14.5122	0.67794	0.0:0.0:0.0:1.0	.	123;123;123;123	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	V	123	ENSP00000385019:F123V;ENSP00000384093:F123V;ENSP00000383887:F123V;ENSP00000385680:F123V;ENSP00000337829:F123V;ENSP00000383028:F123V	ENSP00000337829:F123V	F	+	1	0	CACNA1I	38326489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.798000	0.85924	2.022000	0.59522	0.533000	0.62120	TTT		PASS	0.557	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		21	20	21	20	---	---	---	---
CPT1B	1375	broad.mit.edu	37	22	51007796	51007796	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr22:51007796G>C	ENST00000360719.2	-	19	2427	c.2290C>G	c.(2290-2292)Ctt>Gtt	p.L764V	CPT1B_ENST00000457250.1_Missense_Mutation_p.L730V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.L764V|CPT1B_ENST00000312108.7_Missense_Mutation_p.L764V|CPT1B_ENST00000440709.1_Missense_Mutation_p.L683V|CPT1B_ENST00000395650.2_Missense_Mutation_p.L764V|CPT1B_ENST00000434492.2_Missense_Mutation_p.L559V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	764					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.L764V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ACTTGGAAAAGATCAGCAATG	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2290-2292)CTT>GTT		carnitine palmitoyltransferase 1B isoform a							134.0	130.0	131.0					22																	51007796		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51007796G>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2290C>G	22.37:g.51007796G>C	ENSP00000353945:p.Leu764Val					CPT1B_uc003bml.2_Missense_Mutation_p.L764V|CPT1B_uc003bmm.2_Missense_Mutation_p.L764V|CPT1B_uc003bmo.2_Missense_Mutation_p.L764V|CPT1B_uc011asa.1_Missense_Mutation_p.L730V|CPT1B_uc003bmn.2_Missense_Mutation_p.L764V|CPT1B_uc011asb.1_Missense_Mutation_p.L683V|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.L559V|uc003bmr.1_5'Flank	p.L764V	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	18	2452	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	764			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.2290C>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922262	0.52653	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.11	5.11	0.69529	.	0.206543	0.41605	D	0.000845	D	0.85952	0.5817	L	0.42008	1.315	0.80722	D	1	D;P;P;D	0.63880	0.993;0.938;0.736;0.989	D;P;B;P	0.76071	0.987;0.589;0.339;0.817	D	0.86716	0.1939	10	0.56958	D	0.05	-16.9076	16.0501	0.80755	0.0:0.0:1.0:0.0	.	683;730;559;764	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	764;764;764;730;683;559;764	ENSP00000385486:L764V;ENSP00000312189:L764V;ENSP00000353945:L764V;ENSP00000409342:L730V;ENSP00000414713:L683V;ENSP00000410966:L559V;ENSP00000379011:L764V	ENSP00000312189:L764V	L	-	1	0	CPT1B	49354662	0.999000	0.42202	0.888000	0.34837	0.057000	0.15508	3.365000	0.52335	2.375000	0.81037	0.561000	0.74099	CTT		PASS	0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		5	165	5	165	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14599312	14599312	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:14599312G>T	ENST00000218075.4	+	4	808	c.278G>T	c.(277-279)cGa>cTa	p.R93L	GLRA2_ENST00000355020.4_Missense_Mutation_p.R93L|GLRA2_ENST00000443437.2_Missense_Mutation_p.R4L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	93					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R93L(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TAGGACTACCGAGTGAATATT	0.468																																						uc010nep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(277-279)CGA>CTA		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						99.0	92.0	94.0					X																	14599312		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14599312G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.278G>T	X.37:g.14599312G>T	ENSP00000218075:p.Arg93Leu					GLRA2_uc010neq.2_Missense_Mutation_p.R93L|GLRA2_uc004cwe.3_Missense_Mutation_p.R93L|GLRA2_uc011mio.1_Missense_Mutation_p.R4L|GLRA2_uc011mip.1_Missense_Mutation_p.R71L	p.R93L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			5	610	+	Hepatocellular(33;0.128)		93			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.278G>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407825	0.96051	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	M	0.72118	2.19	0.80722	D	1	P;D;B	0.64830	0.9;0.994;0.365	P;D;B	0.74023	0.877;0.982;0.229	D	0.88512	0.3090	10	0.66056	D	0.02	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	77;93;93	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	L	4;93;93;77	ENSP00000387756:R4L;ENSP00000218075:R93L;ENSP00000347123:R93L;ENSP00000391606:R77L	ENSP00000218075:R93L	R	+	2	0	GLRA2	14509233	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.715000	0.98748	2.404000	0.81709	0.600000	0.82982	CGA		PASS	0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			17	104	17	104	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14861877	14861877	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:14861877C>A	ENST00000324138.3	-	9	2545	c.2392G>T	c.(2392-2394)Gtc>Ttc	p.V798F	FANCB_ENST00000398334.1_Missense_Mutation_p.V798F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	798					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.V798F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCAGCCGCGACGACACTACTC	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2392-2394)GTC>TTC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							142.0	126.0	131.0					X																	14861877		2203	4300	6503	SO:0001583	missense	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14861877C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2392G>T	X.37:g.14861877C>A	ENSP00000326819:p.Val798Phe					FANCB_uc004cwh.1_Missense_Mutation_p.V798F	p.V798F	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			10	2660	-	Hepatocellular(33;0.183)		798					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.2392G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375846	0.11409	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	.	.	.	5.38	-7.68	0.01268	.	2.604820	0.01066	N	0.004738	T	0.23926	0.0579	N	0.22421	0.69	0.09310	N	1	P	0.37636	0.603	B	0.35114	0.196	T	0.36138	-0.9760	9	0.52906	T	0.07	5.2316	11.3495	0.49579	0.0:0.0844:0.1409:0.7747	.	798	Q8NB91	FANCB_HUMAN	F	798	.	ENSP00000326819:V798F	V	-	1	0	FANCB	14771798	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.220000	0.02971	-1.334000	0.02244	-1.013000	0.02462	GTC		PASS	0.408	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		29	193	29	193	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972768	29972768	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:29972768A>T	ENST00000378993.1	+	10	2004	c.1331A>T	c.(1330-1332)tAt>tTt	p.Y444F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Y444F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	444	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.Y444F(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						CATTATGGATATAAGTTGTTT	0.383																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1330-1332)TAT>TTT		interleukin 1 receptor accessory protein-like 1							86.0	78.0	81.0					X																	29972768		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972768A>T	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.1331A>T	X.37:g.29972768A>T	ENSP00000368278:p.Tyr444Phe						p.Y444F	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1839	+			444			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1331A>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642350	0.87859	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.07216	3.21;3.21	5.55	5.55	0.83447	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	M	0.68593	2.085	0.53688	D	0.99997	P	0.37781	0.608	P	0.55161	0.77	T	0.00573	-1.1664	9	.	.	.	.	14.7434	0.69472	1.0:0.0:0.0:0.0	.	444	Q9NZN1	IRPL1_HUMAN	F	444	ENSP00000368278:Y444F;ENSP00000305200:Y444F	.	Y	+	2	0	IL1RAPL1	29882689	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	8.962000	0.93254	1.862000	0.54008	0.481000	0.45027	TAT		PASS	0.383	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		51	136	51	136	---	---	---	---
MAGEB1	4112	broad.mit.edu	37	X	30269105	30269105	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:30269105G>A	ENST00000378981.3	+	4	816	c.495G>A	c.(493-495)ttG>ttA	p.L165L	MAGEB1_ENST00000397550.1_Silent_p.L165L|MAGEB1_ENST00000397548.2_Silent_p.L165L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	165	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L165L(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GCCTTGATTTGAAGGAAGACA	0.483																																						uc004dcc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)TTG>TTA		melanoma antigen family B, 1							71.0	54.0	59.0					X																	30269105		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269105G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.495G>A	X.37:g.30269105G>A						MAGEB1_uc004dcd.2_Silent_p.L165L|MAGEB1_uc004dce.2_Silent_p.L165L	p.L165L	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	815	+			165			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.495G>A	CCDS14222.1																																																																																				PASS	0.483	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		22	38	22	38	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149883	34149883	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:34149883C>T	ENST00000346193.3	-	1	564	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	171								p.K171K(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCTCTGTTGTCTTCTCCTGGG	0.572																																						uc004ddg.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	ovary(4)|central_nervous_system(1)	5						c.(511-513)AAG>AAA		hypothetical protein LOC158724							66.0	65.0	66.0					X																	34149883		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34149883C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.513G>A	X.37:g.34149883C>T							p.K171K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	546	-			171					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.513G>A	CCDS43926.1																																																																																				PASS	0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	81	13	81	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34962130	34962130	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:34962130G>T	ENST00000329357.5	+	1	1218	c.1182G>T	c.(1180-1182)atG>atT	p.M394I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	394								p.M394I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGAGTCGGATGCCCCATCTCC	0.582																																						uc004ddi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1180-1182)ATG>ATT		hypothetical protein LOC170062							59.0	53.0	55.0					X																	34962130		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962130G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1182G>T	X.37:g.34962130G>T	ENSP00000328307:p.Met394Ile						p.M394I	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1200	+			394					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1182G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	2.269	-0.367390	0.05069	.	.	ENSG00000189132	ENST00000329357	T	0.11821	2.74	0.401	-0.634	0.11516	.	.	.	.	.	T	0.08582	0.0213	L	0.39898	1.24	0.09310	N	1	B	0.26081	0.141	B	0.20577	0.03	T	0.41466	-0.9507	8	0.17369	T	0.5	.	.	.	.	.	394	Q8NA70	FA47B_HUMAN	I	394	ENSP00000328307:M394I	ENSP00000328307:M394I	M	+	3	0	FAM47B	34872051	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.022000	0.13511	-0.478000	0.06823	-0.472000	0.04984	ATG		PASS	0.582	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		23	63	23	63	---	---	---	---
CHDC2	286464	broad.mit.edu	37	X	36117965	36117965	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:36117965C>A	ENST00000313548.4	+	7	1007	c.821C>A	c.(820-822)gCa>gAa	p.A274E		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	274						integral component of membrane (GO:0016021)		p.A274E(1)									AGTAAACGGGCATGGACAGAT	0.333																																						uc004ddk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(820-822)GCA>GAA		hypothetical protein LOC286464							101.0	112.0	108.0					X																	36117965		2202	4299	6501	SO:0001583	missense	286464					integral to membrane		g.chrX:36117965C>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.821C>A	X.37:g.36117965C>A	ENSP00000324767:p.Ala274Glu						p.A274E	NM_173695	NP_775966	Q8N9S7	CX059_HUMAN			7	1007	+			274						Missense_Mutation	SNP	ENST00000313548.4	37	c.821C>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100532	0.76983	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	4.76	0.60689	.	0.513144	0.17751	N	0.163242	T	0.49490	0.1560	M	0.65498	2.005	0.22389	N	0.99915	D	0.59767	0.986	P	0.54629	0.757	T	0.52351	-0.8587	9	0.72032	D	0.01	-15.9802	4.4785	0.11755	0.0:0.7203:0.0:0.2797	.	274	Q8N9S7	CX059_HUMAN	E	274	.	ENSP00000324767:A274E	A	+	2	0	CXorf59	36027886	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.295000	0.33377	2.415000	0.81967	0.506000	0.49869	GCA		PASS	0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		67	164	67	164	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37027930	37027930	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:37027930G>T	ENST00000358047.3	+	1	1499	c.1447G>T	c.(1447-1449)Gta>Tta	p.V483L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	483								p.V483L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGAAGGACGTATCTCATCT	0.627																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1447-1449)GTA>TTA		hypothetical protein LOC442444							70.0	67.0	68.0					X																	37027930		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027930G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1447G>T	X.37:g.37027930G>T	ENSP00000367913:p.Val483Leu						p.V483L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1461	+			483					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1447G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.451398	0.26074	.	.	ENSG00000198173	ENST00000358047	T	0.18960	2.18	0.675	-0.829	0.10796	.	.	.	.	.	T	0.30479	0.0766	M	0.72894	2.215	0.09310	N	1	P	0.50943	0.94	P	0.55785	0.784	T	0.18085	-1.0348	9	0.27082	T	0.32	.	5.1196	0.14852	0.0:0.0:0.6612:0.3387	.	483	Q5HY64	FA47C_HUMAN	L	483	ENSP00000367913:V483L	ENSP00000367913:V483L	V	+	1	0	FAM47C	36937851	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	1.684000	0.37649	-0.364000	0.08088	0.407000	0.27541	GTA		PASS	0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		27	86	27	86	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028017	37028017	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:37028017C>A	ENST00000358047.3	+	1	1586	c.1534C>A	c.(1534-1536)Cca>Aca	p.P512T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	512								p.P512T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCATCTCCGCCCAGAGCCTTC	0.597																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1534-1536)CCA>ACA		hypothetical protein LOC442444							85.0	82.0	83.0					X																	37028017		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028017C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1534C>A	X.37:g.37028017C>A	ENSP00000367913:p.Pro512Thr						p.P512T	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1548	+			512					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1534C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	0.090	-1.168660	0.01660	.	.	ENSG00000198173	ENST00000358047	T	0.22539	1.95	0.993	0.993	0.19825	.	.	.	.	.	T	0.18383	0.0441	M	0.70275	2.135	0.09310	N	1	P	0.38800	0.648	B	0.28849	0.095	T	0.12785	-1.0534	9	0.39692	T	0.17	.	7.5332	0.27695	0.0:0.9999:0.0:1.0E-4	.	512	Q5HY64	FA47C_HUMAN	T	512	ENSP00000367913:P512T	ENSP00000367913:P512T	P	+	1	0	FAM47C	36937938	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.664000	0.05292	0.764000	0.33197	0.413000	0.27773	CCA		PASS	0.597	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		25	115	25	115	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028891	37028891	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:37028891C>T	ENST00000358047.3	+	1	2460	c.2408C>T	c.(2407-2409)cCt>cTt	p.P803L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	803								p.P803L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGCCTGGAGCCTCCCAAGACT	0.587																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2407-2409)CCT>CTT		hypothetical protein LOC442444							45.0	45.0	45.0					X																	37028891		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028891C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2408C>T	X.37:g.37028891C>T	ENSP00000367913:p.Pro803Leu						p.P803L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2422	+			803					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2408C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073517	0.20147	.	.	ENSG00000198173	ENST00000358047	T	0.22743	1.94	0.217	-0.433	0.12287	.	.	.	.	.	T	0.26919	0.0659	L	0.35723	1.085	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18650	-1.0330	8	0.22706	T	0.39	.	.	.	.	.	803	Q5HY64	FA47C_HUMAN	L	803	ENSP00000367913:P803L	ENSP00000367913:P803L	P	+	2	0	FAM47C	36938812	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.134000	0.15932	-0.925000	0.03775	-0.932000	0.02703	CCT		PASS	0.587	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	75	10	75	---	---	---	---
GPR34	2857	broad.mit.edu	37	X	41555559	41555559	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:41555559G>T	ENST00000378142.4	+	3	957	c.673G>T	c.(673-675)Gta>Tta	p.V225L	CASK_ENST00000361962.4_Intron|CASK_ENST00000378166.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.V225L|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	225					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.V225L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CATTCTTGTGGTAATGTTCTG	0.318																																						uc004dfp.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(673-675)GTA>TTA		G protein-coupled receptor 34							56.0	45.0	49.0					X																	41555559		2203	4298	6501	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555559G>T	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.673G>T	X.37:g.41555559G>T	ENSP00000367384:p.Val225Leu					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.V225L|GPR34_uc010nhg.2_Missense_Mutation_p.V225L|GPR34_uc004dfr.3_Missense_Mutation_p.V225L	p.V225L	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	957	+			225			Helical; Name=5; (Potential).		O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.673G>T	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	7.627	0.678062	0.14841	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.34275	1.37;1.37	5.82	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.520412	0.20545	N	0.090238	T	0.16896	0.0406	N	0.21282	0.65	0.09310	N	0.999999	B	0.09022	0.002	B	0.18263	0.021	T	0.17961	-1.0352	10	0.10902	T	0.67	-2.5895	0.6379	0.00806	0.41:0.1707:0.2404:0.1789	.	225	Q9UPC5	GPR34_HUMAN	L	225;225;178	ENSP00000367384:V225L;ENSP00000367378:V225L	ENSP00000367378:V225L	V	+	1	0	GPR34	41440503	0.985000	0.35326	0.997000	0.53966	0.974000	0.67602	1.074000	0.30703	0.624000	0.30286	0.594000	0.82650	GTA		PASS	0.318	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		18	92	18	92	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47308216	47308216	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:47308216G>T	ENST00000377065.4	-	5	1592	c.953C>A	c.(952-954)cCa>cAa	p.P318Q	ZNF41_ENST00000313116.7_Missense_Mutation_p.P318Q|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.P328Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P318Q(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAAACACTTGGATGTACATC	0.413																																						uc004dhs.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1078-1080)CCA>CAA		zinc finger protein 41							69.0	68.0	68.0					X																	47308216		2203	4298	6501	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308216G>T	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.953C>A	X.37:g.47308216G>T	ENSP00000366265:p.Pro318Gln					ZNF41_uc004dhu.3_Missense_Mutation_p.P352Q|ZNF41_uc004dht.3_Missense_Mutation_p.P232Q|ZNF41_uc004dhv.3_Missense_Mutation_p.P328Q|ZNF41_uc004dhw.3_Missense_Mutation_p.P320Q|ZNF41_uc004dhy.3_Missense_Mutation_p.P318Q|ZNF41_uc004dhx.3_Missense_Mutation_p.P318Q|ZNF41_uc011mlm.1_Missense_Mutation_p.P232Q	p.P360Q	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	1146	-		all_lung(315;0.000129)	360			C2H2-type 2; degenerate.		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1079C>A	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.458579	0.00173	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07114	3.22;3.22;3.22	3.15	-2.56	0.06268	Zinc finger, C2H2 (1);	0.591933	0.12796	N	0.438382	T	0.01222	0.0040	N	0.00204	-1.855	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001	T	0.40365	-0.9567	10	0.02654	T	1	.	4.4814	0.11769	0.315:0.0:0.3083:0.3767	.	318;320;328;352;360	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Q	318;318;328	ENSP00000315173:P318Q;ENSP00000366265:P318Q;ENSP00000380243:P328Q	ENSP00000315173:P318Q	P	-	2	0	ZNF41	47193160	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.255000	0.18333	-0.667000	0.05303	-4.353000	0.00007	CCA		PASS	0.413	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		63	217	63	217	---	---	---	---
SSX1	6756	broad.mit.edu	37	X	48116705	48116705	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:48116705G>T	ENST00000376919.3	+	2	165	c.29G>T	c.(28-30)aGa>aTa	p.R10I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)	p.R10I(1)	SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						TTTGCAAAGAGACCCAGGGAT	0.547			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	uc004djb.1				Dom	yes		X	Xp11.23-p11.22	6756		"""synovial sarcoma, X breakpoint 1"""			M				SS18/SSX1(1169)	1	Substitution - Missense(1)		lung(1)	soft_tissue(1169)	1169						c.(28-30)AGA>ATA		synovial sarcoma, X breakpoint 1							101.0	78.0	86.0					X																	48116705		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48116705G>T	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.29G>T	X.37:g.48116705G>T	ENSP00000366118:p.Arg10Ile						p.R10I	NM_005635	NP_005626	Q16384	SSX1_HUMAN			2	120	+			10					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.29G>T	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	12.95	2.090395	0.36855	.	.	ENSG00000126752	ENST00000376919	T	0.08370	3.1	1.84	1.84	0.25277	.	1.348330	0.04867	N	0.445235	T	0.23370	0.0565	L	0.58810	1.83	0.09310	N	1	D	0.61697	0.99	D	0.69142	0.962	T	0.12682	-1.0538	10	0.72032	D	0.01	.	6.5537	0.22448	0.0:0.0:1.0:0.0	.	10	Q16384	SSX1_HUMAN	I	10	ENSP00000366118:R10I	ENSP00000366118:R10I	R	+	2	0	SSX1	48001649	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	-1.199000	0.03032	1.212000	0.43366	0.171000	0.16805	AGA		PASS	0.547	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		7	84	7	84	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207011	48207011	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:48207011G>T	ENST00000298396.2	-	7	547	c.495C>A	c.(493-495)acC>acA	p.T165T	SSX3_ENST00000376895.1_Silent_p.T77T	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.T165T(1)		endometrium(3)|large_intestine(1)|lung(9)	13						GCAGTCTGTGGGTCCAGGCAT	0.478													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15539	0.0		0.0	False		,,,				2504	0.0				Colon(37;227 826 19399 40970 48007)	uc004djd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)ACC>ACA		synovial sarcoma, X breakpoint 3 isoform a							278.0	250.0	260.0					X																	48207011		2203	4297	6500	SO:0001819	synonymous_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207011G>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.495C>A	X.37:g.48207011G>T							p.T165T	NM_021014	NP_066294	Q99909	SSX3_HUMAN			7	589	-			165					O60223|Q5JQZ3|Q9BRW7	Silent	SNP	ENST00000298396.2	37	c.495C>A	CCDS14291.1																																																																																				PASS	0.478	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		86	500	86	500	---	---	---	---
PRAF2	11230	broad.mit.edu	37	X	48931479	48931479	+	Silent	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:48931479G>C	ENST00000376390.4	-	1	251	c.168C>G	c.(166-168)ctC>ctG	p.L56L	PRAF2_ENST00000376386.3_Silent_p.L56L|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	56			L -> F (in dbSNP:rs34565429).		L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L56L(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						CGGCGAGAGCGAGGCCGATGC	0.647																																						uc004dmi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CTC>CTG		PRA1 domain family, member 2							66.0	57.0	60.0					X																	48931479		2203	4300	6503	SO:0001819	synonymous_variant	11230				L-glutamate transport|protein transport	endosome membrane|integral to membrane		g.chrX:48931479G>C	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.168C>G	X.37:g.48931479G>C						PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron	p.L56L	NM_007213	NP_009144	O60831	PRAF2_HUMAN			1	184	-			56			Helical; (Potential).		B2RD20	Silent	SNP	ENST00000376390.4	37	c.168C>G	CCDS14317.1																																																																																				PASS	0.647	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		10	66	10	66	---	---	---	---
PRICKLE3	4007	broad.mit.edu	37	X	49034343	49034343	+	Splice_Site	SNP	G	G	A	rs376833620		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:49034343G>A	ENST00000376317.3	-	7	1048	c.954C>T	c.(952-954)atC>atT	p.I318I	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Splice_Site_p.I237I|PRICKLE3_ENST00000540849.1_Splice_Site_p.I250I	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	318	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)	p.I318I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TTCACCCACCGATGTGCTCCC	0.652																																						uc004dmy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(952-954)ATC>ATT		LIM domain only 6		G		0,3835		0,0,1632,571	42.0	41.0	42.0		954	-10.0	0.8	X		42	1,6727		0,1,2427,1872	no	coding-synonymous-near-splice	PRICKLE3	NM_006150.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		318/616	49034343	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	4007						protein binding|zinc ion binding	g.chrX:49034343G>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.955+1C>T	X.37:g.49034343G>A						PRICKLE3_uc011mmv.1_Silent_p.I250I|PRICKLE3_uc011mmw.1_Silent_p.I237I|PRICKLE3_uc011mmx.1_Silent_p.I280I|PRICKLE3_uc011mmy.1_Silent_p.I305I	p.I318I	NM_006150	NP_006141	O43900	PRIC3_HUMAN			7	980	-			318			LIM zinc-binding 3.		B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.954C>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	G	4.402	0.074319	0.08485	0.0	1.49E-4	ENSG00000012211	ENST00000453382;ENST00000432913	.	.	.	4.99	-9.98	0.00438	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63585	-0.6604	4	.	.	.	-7.445	12.5623	0.56288	0.2632:0.0:0.6318:0.1049	.	.	.	.	W	331;329	.	.	R	-	1	2	PRICKLE3	48921287	0.000000	0.05858	0.835000	0.33067	0.876000	0.50452	-1.656000	0.01980	-1.720000	0.01380	-0.802000	0.03209	CGG		PASS	0.652	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150	Silent	27	37	27	37	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49086835	49086835	+	Splice_Site	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:49086835C>A	ENST00000376265.2	-	6	726		c.e6-1		CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTGCAGGCCTGCGGGGAGG	0.607																																						uc004dnb.2																			1	Unknown(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.e6-1		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						39.0	33.0	35.0					X																	49086835		2203	4300	6503	SO:0001630	splice_region_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49086835C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.665-1G>T	X.37:g.49086835C>A						CACNA1F_uc010nip.2_Splice_Site_p.S222_splice	p.S222_splice	NM_005183	NP_005174	O60840	CAC1F_HUMAN			6	727	-								A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	c.665_splice	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.810476	0.50421	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9323	0.70926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48973779	1.000000	0.71417	0.990000	0.47175	0.629000	0.37895	7.567000	0.82357	1.843000	0.53566	0.287000	0.19450	.		PASS	0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	Intron	5	30	5	30	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50051880	50051880	+	Silent	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:50051880A>C	ENST00000376042.1	+	6	1009	c.711A>C	c.(709-711)gcA>gcC	p.A237A	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A237A|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	237					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.A237A(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATGTGTGCAAGTCAGCGGA	0.423																																						uc004dox.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(709-711)GCA>GCC		cyclin B3 isoform 3							78.0	71.0	74.0					X																	50051880		2203	4299	6502	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051880A>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.711A>C	X.37:g.50051880A>C						CCNB3_uc004doy.2_Silent_p.A237A|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.A237A	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1009	+	Ovarian(276;0.236)		237					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.711A>C	CCDS14331.1																																																																																				PASS	0.423	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			17	129	17	129	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53574675	53574675	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:53574675G>T	ENST00000342160.3	-	67	11052	c.10595C>A	c.(10594-10596)aCc>aAc	p.T3532N	HUWE1_ENST00000262854.6_Missense_Mutation_p.T3532N|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3532	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T3422N(1)|p.T3532N(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTCACTGTGGTCGAAGCAGC	0.572																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(10594-10596)ACC>AAC		HECT, UBA and WWE domain containing 1							84.0	63.0	70.0					X																	53574675		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574675G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10595C>A	X.37:g.53574675G>T	ENSP00000340648:p.Thr3532Asn					HUWE1_uc004dsn.2_Missense_Mutation_p.T2340N|HUWE1_uc004dsq.1_5'Flank	p.T3532N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			68	10997	-			3532			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10595C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.372237|1.372237	0.24857|0.24857	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.37584	.|1.19;1.19	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|2.456720	.|0.01112	.|N	.|0.005580	T|T	0.30479|0.30479	0.0766|0.0766	N|N	0.22421|0.22421	0.69|0.69	0.29684|0.29684	N|N	0.841468|0.841468	.|B;P	.|0.36535	.|0.421;0.557	.|B;B	.|0.32864	.|0.051;0.154	T|T	0.30822|0.30822	-0.9965|-0.9965	5|10	.|0.15952	.|T	.|0.53	.|.	15.0609|15.0609	0.71951|0.71951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3532;3516	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	E|N	2565;369|3532	.|ENSP00000340648:T3532N;ENSP00000262854:T3532N	.|ENSP00000262854:T3532N	D|T	-|-	3|2	2|0	HUWE1|HUWE1	53591400|53591400	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.988000|0.988000	0.76386|0.76386	5.815000|5.815000	0.69215|0.69215	2.347000|2.347000	0.79759|0.79759	0.597000|0.597000	0.82753|0.82753	GAC|ACC		PASS	0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	41	7	41	---	---	---	---
USP51	158880	broad.mit.edu	37	X	55513251	55513251	+	Missense_Mutation	SNP	G	G	T	rs200045736		TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:55513251G>T	ENST00000500968.3	-	2	2204	c.2122C>A	c.(2122-2124)Cta>Ata	p.L708I	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	708					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L708I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTTTCTCTAGACCCTGTTTG	0.418																																						uc004dun.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2122-2124)CTA>ATA		ubiquitin specific protease 51							67.0	56.0	59.0					X																	55513251		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513251G>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2122C>A	X.37:g.55513251G>T	ENSP00000423333:p.Leu708Ile					USP51_uc011moo.1_Missense_Mutation_p.L412I	p.L708I	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	2201	-			708					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.2122C>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	7.470	0.646530	0.14451	.	.	ENSG00000247746	ENST00000500968	T	0.10960	2.82	2.88	-0.34	0.12643	.	.	.	.	.	T	0.11067	0.0270	M	0.63843	1.955	0.43304	D	0.9953	P	0.35307	0.494	B	0.36504	0.226	T	0.11891	-1.0569	9	0.40728	T	0.16	.	5.9761	0.19379	0.0:0.1776:0.4554:0.3669	.	708	Q70EK9	UBP51_HUMAN	I	708	ENSP00000423333:L708I	ENSP00000423333:L708I	L	-	1	2	USP51	55529976	1.000000	0.71417	0.210000	0.23637	0.923000	0.55619	1.253000	0.32886	-0.179000	0.10654	0.502000	0.49764	CTA		PASS	0.418	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		19	142	19	142	---	---	---	---
UBQLN2	29978	broad.mit.edu	37	X	56590724	56590724	+	Missense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:56590724A>T	ENST00000338222.5	+	1	699	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	140					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S140C(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TTCCACAAATAGCAACCCGTT	0.592																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(418-420)AGC>TGC		ubiquilin 2							34.0	33.0	33.0					X																	56590724		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56590724A>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.418A>T	X.37:g.56590724A>T	ENSP00000345195:p.Ser140Cys					UBQLN2_uc011moq.1_Missense_Mutation_p.S140C	p.S140C	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	653	+			140					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.418A>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	A	9.791	1.177795	0.21787	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.82984	-1.67	4.72	4.72	0.59763	.	0.854162	0.10575	N	0.658687	D	0.87799	0.6268	M	0.71581	2.175	0.38085	D	0.936782	D;D	0.64830	0.991;0.994	P;P	0.56865	0.706;0.808	D	0.86223	0.1632	10	0.56958	D	0.05	-11.0686	9.6793	0.40061	1.0:0.0:0.0:0.0	.	140;140	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	C	140	ENSP00000345195:S140C	ENSP00000345195:S140C	S	+	1	0	UBQLN2	56607449	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	2.347000	0.44036	1.888000	0.54679	0.486000	0.48141	AGC		PASS	0.592	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444		9	44	9	44	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65476119	65476119	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:65476119C>G	ENST00000343002.2	+	16	3507	c.2843C>G	c.(2842-2844)cCa>cGa	p.P948R	HEPH_ENST00000336279.5_Missense_Mutation_p.P681R|HEPH_ENST00000441993.2_Missense_Mutation_p.P951R|HEPH_ENST00000419594.1_Missense_Mutation_p.P759R|HEPH_ENST00000374727.3_Missense_Mutation_p.P951R|HEPH_ENST00000519389.1_Missense_Mutation_p.P1002R			Q9BQS7	HEPH_HUMAN	hephaestin	948	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.P948R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCAGGATCCAGGCAGTATT	0.408																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2851-2853)CCA>CGA		hephaestin isoform a							132.0	119.0	123.0					X																	65476119		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65476119C>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2843C>G	X.37:g.65476119C>G	ENSP00000343939:p.Pro948Arg					HEPH_uc004dwn.2_Missense_Mutation_p.P951R|HEPH_uc004dwo.2_Missense_Mutation_p.P681R|HEPH_uc010nkr.2_Missense_Mutation_p.P759R|HEPH_uc011mpa.1_Missense_Mutation_p.P951R|HEPH_uc010nks.2_Missense_Mutation_p.P240R	p.P951R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			17	2912	+			948			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2852C>G		.	.	.	.	.	.	.	.	.	.	C	4.826	0.153564	0.09185	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	4.29	2.48	0.30137	Cupredoxin (2);	0.689203	0.14386	N	0.322826	D	0.97579	0.9207	M	0.69823	2.125	0.09310	N	1	B;B;P;B	0.44776	0.226;0.004;0.843;0.013	P;B;B;B	0.45099	0.469;0.015;0.123;0.072	D	0.93763	0.7068	10	0.62326	D	0.03	.	7.8219	0.29292	0.0:0.7444:0.1602:0.0954	.	1002;348;759;948	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	R	1002;951;681;951;759;948	ENSP00000430620:P1002R;ENSP00000363859:P951R;ENSP00000337418:P681R;ENSP00000411687:P951R;ENSP00000413211:P759R;ENSP00000343939:P948R	ENSP00000337418:P681R	P	+	2	0	HEPH	65392844	0.000000	0.05858	0.002000	0.10522	0.111000	0.19643	1.161000	0.31773	0.398000	0.25338	-0.346000	0.07831	CCA		PASS	0.408	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		21	118	21	118	---	---	---	---
FOXO4	4303	broad.mit.edu	37	X	70316676	70316676	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:70316676G>T	ENST00000374259.3	+	1	630	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	FOXO4_ENST00000466874.1_Intron|FOXO4_ENST00000341558.3_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	100					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A100S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCGCCGGAATGCCTGGGGAAA	0.637																																						uc004dys.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|prostate(1)	3						c.(298-300)GCC>TCC		forkhead box O4							34.0	33.0	33.0					X																	70316676		2020	4170	6190	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|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 enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70316676G>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.298G>T	X.37:g.70316676G>T	ENSP00000363377:p.Ala100Ser					FOXO4_uc010nkz.2_Missense_Mutation_p.A100S|FOXO4_uc004dyt.1_Intron	p.A100S	NM_005938	NP_005929	P98177	FOXO4_HUMAN			1	651	+	Renal(35;0.156)		100			Fork-head.		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.298G>T	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522218	0.64747	.	.	ENSG00000184481	ENST00000374259	D	0.95885	-3.84	4.69	4.69	0.59074	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	L	0.57536	1.79	0.80722	D	1	B;B	0.33964	0.434;0.229	P;D	0.76575	0.816;0.988	D	0.97553	1.0093	10	0.56958	D	0.05	-46.7341	14.4431	0.67330	0.0:0.0:1.0:0.0	.	100;100	B4DTB6;P98177	.;FOXO4_HUMAN	S	100	ENSP00000363377:A100S	ENSP00000363377:A100S	A	+	1	0	FOXO4	70233401	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	9.336000	0.96533	2.077000	0.62373	0.523000	0.50628	GCC		PASS	0.637	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		4	19	4	19	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389919	70389919	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:70389919C>A	ENST00000358741.3	+	8	2822	c.2519C>A	c.(2518-2520)cCc>cAc	p.P840H	NLGN3_ENST00000374051.3_Missense_Mutation_p.P820H|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.P800H	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	840					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.P840H(1)|p.P820H(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCGGGCTGCCCCACTCACAC	0.572																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2458-2460)CCC>CAC		neuroligin 3							68.0	52.0	57.0					X																	70389919		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389919C>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2519C>A	X.37:g.70389919C>A	ENSP00000351591:p.Pro840His					NLGN3_uc004dzc.2_Missense_Mutation_p.P703H|NLGN3_uc011mps.1_Missense_Mutation_p.P800H|NLGN3_uc004dze.2_Missense_Mutation_p.P638H	p.P820H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2763	+	Renal(35;0.156)		840			Cytoplasmic (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.2459C>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686892	0.68157	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.81163	-1.37;-1.44;-1.46	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.89577	0.6755	M	0.75777	2.31	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	0.90709	0.4626	10	0.87932	D	0	.	17.6521	0.88167	0.0:1.0:0.0:0.0	.	800;840;820	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	H	800;820;840	ENSP00000445298:P800H;ENSP00000363163:P820H;ENSP00000351591:P840H	ENSP00000351591:P840H	P	+	2	0	NLGN3	70306644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.651000	0.83577	2.462000	0.83206	0.525000	0.51046	CCC		PASS	0.572	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		8	36	8	36	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472962	70472962	+	Silent	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:70472962A>T	ENST00000353904.2	-	2	331	c.144T>A	c.(142-144)ccT>ccA	p.P48P	ZMYM3_ENST00000373984.3_Silent_p.P48P|ZMYM3_ENST00000373981.1_Silent_p.P48P|ZMYM3_ENST00000314425.5_Silent_p.P48P|ZMYM3_ENST00000373982.1_Silent_p.P48P|ZMYM3_ENST00000373978.1_Silent_p.P48P|ZMYM3_ENST00000373988.1_Silent_p.P48P|ZMYM3_ENST00000373998.1_Silent_p.P48P|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					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.P48P(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)					GAGAAGGGCCAGGGGGGGCCC	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dzh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(142-144)CCT>CCA		zinc finger protein 261							11.0	13.0	13.0					X																	70472962		2170	4249	6419	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472962A>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.144T>A	X.37:g.70472962A>T			OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P48P|ZMYM3_uc004dzj.1_Silent_p.P48P|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Silent_p.P48P|ZMYM3_uc004dzl.3_Silent_p.P48P|ZMYM3_uc004dzm.3_Silent_p.P48P	p.P48P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	231	-	Renal(35;0.156)		48					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.144T>A	CCDS14409.1																																																																																				PASS	0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		5	21	5	21	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70603813	70603813	+	Splice_Site	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:70603813T>C	ENST00000373790.4	+	13	1997	c.1946T>C	c.(1945-1947)aTg>aCg	p.M649T	TAF1_ENST00000423759.1_Splice_Site_p.M670T|TAF1_ENST00000276072.3_Splice_Site_p.M670T|TAF1_ENST00000449580.1_Splice_Site_p.M649T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	649	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.M649T(1)|p.M670T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTGGACAGATGAGAGAACAA	0.428																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1945-1947)ATG>ACG		TBP-associated factor 1 isoform 2							192.0	160.0	171.0					X																	70603813		2203	4300	6503	SO:0001630	splice_region_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603813T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1945-1T>C	X.37:g.70603813T>C						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M670T	p.M649T	NM_138923	NP_620278	P21675	TAF1_HUMAN			13	1997	+	Renal(35;0.156)	all_lung(315;0.000321)	649					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1946T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	16.99	3.272913	0.59649	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	L	0.38838	1.175	0.80722	D	1	B;P	0.42337	0.078;0.776	B;P	0.46362	0.18;0.514	T	0.04495	-1.0947	10	0.23891	T	0.37	.	15.2112	0.73225	0.0:0.0:0.0:1.0	.	649;670	P21675;P21675-2	TAF1_HUMAN;.	T	649;649;670;670	ENSP00000362895:M649T;ENSP00000389000:M649T;ENSP00000406549:M670T;ENSP00000276072:M670T	ENSP00000276072:M670T	M	+	2	0	TAF1	70520538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.532000	0.81985	1.976000	0.57569	0.486000	0.48141	ATG		PASS	0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	Missense_Mutation	31	169	31	169	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425039	71425039	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:71425039G>C	ENST00000334463.3	-	2	3713	c.3578C>G	c.(3577-3579)gCg>gGg	p.A1193G	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.A1070G	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1193					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1193G(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGCCTCTGCCGCCTTATCCTG	0.473																																						uc004eaq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3577-3579)GCG>GGG		excision repair protein ERCC6-like							84.0	73.0	77.0					X																	71425039		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425039G>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3578C>G	X.37:g.71425039G>C	ENSP00000334675:p.Ala1193Gly					PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.A1070G	p.A1193G	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	3675	-	Renal(35;0.156)		1193					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3578C>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008079	0.35415	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91237	-2.79;-2.81	5.49	2.44	0.29823	.	.	.	.	.	D	0.87892	0.6292	M	0.62723	1.935	0.09310	N	1	D	0.53151	0.958	P	0.44477	0.451	T	0.78311	-0.2253	9	0.37606	T	0.19	-4.8401	6.7384	0.23422	0.09:0.0:0.6016:0.3084	.	1193	Q2NKX8	ERC6L_HUMAN	G	1070;1193	ENSP00000362761:A1070G;ENSP00000334675:A1193G	ENSP00000334675:A1193G	A	-	2	0	ERCC6L	71341764	0.000000	0.05858	0.228000	0.23943	0.120000	0.20174	-0.011000	0.12721	1.035000	0.39972	0.544000	0.68410	GCG		PASS	0.473	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		12	96	12	96	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73960135	73960135	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:73960135G>T	ENST00000055682.6	-	3	4868	c.4257C>A	c.(4255-4257)aaC>aaA	p.N1419K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1419					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.N1419K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAGAGTCCTCGTTATAACCAG	0.428																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(4255-4257)AAC>AAA		hypothetical protein LOC340533							202.0	167.0	179.0					X																	73960135		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960135G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4257C>A	X.37:g.73960135G>T	ENSP00000055682:p.Asn1419Lys						p.N1419K	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4874	-			1419					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4257C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	9.218	1.032604	0.19590	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.30981	1.51;1.51	5.11	-1.6	0.08426	.	0.584188	0.20563	N	0.089863	T	0.14313	0.0346	N	0.19112	0.55	0.19575	N	0.999961	P	0.36438	0.553	B	0.31946	0.138	T	0.10706	-1.0618	10	0.44086	T	0.13	-7.3892	6.7777	0.23628	0.5505:0.0:0.3331:0.1164	.	1419	Q5QGS0	K2022_HUMAN	K	1419	ENSP00000362567:N1419K;ENSP00000055682:N1419K	ENSP00000055682:N1419K	N	-	3	2	KIAA2022	73876860	0.000000	0.05858	0.510000	0.27712	0.987000	0.75469	-1.828000	0.01702	-0.955000	0.03636	0.544000	0.68410	AAC		PASS	0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		56	255	56	255	---	---	---	---
PGK1	5230	broad.mit.edu	37	X	77373610	77373610	+	Missense_Mutation	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:77373610A>G	ENST00000373316.4	+	6	751	c.584A>G	c.(583-585)aAc>aGc	p.N195S	PGK1_ENST00000537456.1_Missense_Mutation_p.N167S|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	195					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.N195S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	AAGGAGCTGAACTACTTTGCA	0.468																																						uc004ecz.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(583-585)AAC>AGC		phosphoglycerate kinase 1							135.0	123.0	127.0					X																	77373610		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77373610A>G	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.584A>G	X.37:g.77373610A>G	ENSP00000362413:p.Asn195Ser					PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.N167S	p.N195S	NM_000291	NP_000282	P00558	PGK1_HUMAN			6	756	+			195					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.584A>G	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	A	8.934	0.964210	0.18583	.	.	ENSG00000102144	ENST00000373316;ENST00000450919;ENST00000537456	D;D	0.91631	-2.88;-2.88	4.83	2.19	0.27852	Phosphoglycerate kinase, N-terminal (1);	0.145442	0.64402	D	0.000011	T	0.80934	0.4719	N	0.11064	0.09	0.25134	N	0.990546	B	0.02656	0.0	B	0.01281	0.0	T	0.70342	-0.4898	10	0.45353	T	0.12	-50.0978	7.0927	0.25293	0.7059:0.1484:0.0:0.1457	.	195	P00558	PGK1_HUMAN	S	195;20;167	ENSP00000362413:N195S;ENSP00000444708:N167S	ENSP00000362413:N195S	N	+	2	0	PGK1	77260266	1.000000	0.71417	0.959000	0.39883	0.002000	0.02628	7.312000	0.78968	0.599000	0.29845	0.417000	0.27973	AAC		PASS	0.468	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			42	263	42	263	---	---	---	---
DIAPH2	1730	broad.mit.edu	37	X	96396771	96396771	+	Silent	SNP	A	A	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:96396771A>G	ENST00000324765.8	+	22	3044	c.2697A>G	c.(2695-2697)gaA>gaG	p.E899E	DIAPH2_ENST00000373054.4_Silent_p.E895E|DIAPH2_ENST00000355827.4_Silent_p.E899E|DIAPH2_ENST00000373049.4_Silent_p.E899E|DIAPH2_ENST00000373061.3_Silent_p.E899E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	899	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.E899E(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAGAACTGGAACACGTAGAAA	0.318																																						uc004efu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(2695-2697)GAA>GAG		diaphanous 2 isoform 156							66.0	62.0	64.0					X																	96396771		2202	4300	6502	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96396771A>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2697A>G	X.37:g.96396771A>G						DIAPH2_uc004eft.3_Silent_p.E899E	p.E899E	NM_006729	NP_006720	O60879	DIAP2_HUMAN			22	3093	+			899			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.2697A>G	CCDS14467.1																																																																																				PASS	0.318	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		14	91	14	91	---	---	---	---
XKRX	402415	broad.mit.edu	37	X	100169714	100169714	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:100169714G>T	ENST00000372956.2	-	3	1567	c.963C>A	c.(961-963)ggC>ggA	p.G321G	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Silent_p.G334G			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G334G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AGAAGTTGATGCCAGCATAGA	0.517																																						uc004egn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(961-963)GGC>GGA		XK, Kell blood group complex subunit-related,							141.0	134.0	136.0					X																	100169714		2203	4300	6503	SO:0001819	synonymous_variant	402415					integral to membrane|plasma membrane		g.chrX:100169714G>T	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.963C>A	X.37:g.100169714G>T						XKRX_uc011mre.1_Silent_p.G117G	p.G321G	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			3	1568	-			321			Helical; (Potential).		B2RNN6|B4DKU2|Q5H9J6	Silent	SNP	ENST00000372956.2	37	c.963C>A	CCDS14476.2																																																																																				PASS	0.517	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		73	306	73	306	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101909873	101909873	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:101909873G>A	ENST00000361600.5	+	5	1833	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	GPRASP1_ENST00000444152.1_Missense_Mutation_p.M344I|GPRASP1_ENST00000537097.1_Missense_Mutation_p.M344I|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M344I|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	344					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.M344I(1)		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						TTGATTTCATGCCTGGGTCTA	0.478																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1030-1032)ATG>ATA		G protein-coupled receptor associated sorting							62.0	67.0	65.0					X																	101909873		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909873G>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.1032G>A	X.37:g.101909873G>A	ENSP00000355146:p.Met344Ile					GPRASP1_uc004eji.3_Missense_Mutation_p.M344I|GPRASP1_uc010nod.2_Missense_Mutation_p.M344I	p.M344I	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	1833	+			344					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1032G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	4.730	0.135785	0.09032	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	2.41	0.585	0.17428	.	.	.	.	.	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37888	-0.9686	9	0.35671	T	0.21	-1.296	6.1022	0.20053	0.3:0.0:0.7:0.0	.	344	Q5JY77	GASP1_HUMAN	I	344	ENSP00000393691:M344I;ENSP00000409420:M344I;ENSP00000355146:M344I;ENSP00000445683:M344I	ENSP00000355146:M344I	M	+	3	0	GPRASP1	101796529	0.000000	0.05858	0.001000	0.08648	0.185000	0.23345	-0.563000	0.05943	0.053000	0.16036	0.458000	0.33432	ATG		PASS	0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		40	210	40	210	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107978980	107978980	+	Missense_Mutation	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:107978980G>A	ENST00000372129.2	-	1	671	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	199	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.L199F(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTGCTCTCGAGGATGAGGCGG	0.662																																						uc004eoc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(595-597)CTC>TTC		insulin receptor substrate 4							27.0	24.0	25.0					X																	107978980		2200	4297	6497	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978980G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.595C>T	X.37:g.107978980G>A	ENSP00000361202:p.Leu199Phe						p.L199F	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	628	-			199			PH.			Missense_Mutation	SNP	ENST00000372129.2	37	c.595C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537022	0.13188	.	.	ENSG00000133124	ENST00000372129	T	0.37411	1.2	4.37	3.47	0.39725	Pleckstrin homology domain (2);	0.243356	0.35040	N	0.003500	T	0.25644	0.0624	N	0.08118	0	0.31976	N	0.606496	D	0.61697	0.99	P	0.59546	0.859	T	0.14504	-1.0470	10	0.09843	T	0.71	-12.6935	5.8235	0.18540	0.0:0.1599:0.4463:0.3938	.	199	O14654	IRS4_HUMAN	F	199	ENSP00000361202:L199F	ENSP00000361202:L199F	L	-	1	0	IRS4	107865636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.099000	0.50267	2.014000	0.59158	0.600000	0.82982	CTC		PASS	0.662	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		5	9	5	9	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686050	125686050	+	Missense_Mutation	SNP	G	G	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:125686050G>C	ENST00000371126.1	-	1	784	c.542C>G	c.(541-543)tCc>tGc	p.S181C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	181								p.S181C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGGATCCAGGGAGGGCAGCTG	0.667																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(541-543)TCC>TGC		DDB1 and CUL4 associated factor 12-like 1							54.0	55.0	54.0					X																	125686050		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125686050G>C	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.542C>G	X.37:g.125686050G>C	ENSP00000360167:p.Ser181Cys						p.S181C	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	793	-			181			WD 1.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.542C>G	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248560	0.39797	.	.	ENSG00000198889	ENST00000371126	T	0.66638	-0.22	3.44	2.52	0.30459	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.245280	0.21420	N	0.074835	T	0.43545	0.1252	N	0.19112	0.55	0.25256	N	0.98964	P	0.44877	0.845	B	0.34722	0.188	T	0.41106	-0.9527	10	0.87932	D	0	.	6.9197	0.24380	0.0:0.0:0.7266:0.2734	.	181	Q5VU92	DC121_HUMAN	C	181	ENSP00000360167:S181C	ENSP00000360167:S181C	S	-	2	0	DCAF12L1	125513731	1.000000	0.71417	0.019000	0.16419	0.947000	0.59692	5.259000	0.65485	0.780000	0.33566	0.429000	0.28392	TCC		PASS	0.667	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		8	36	8	36	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128709990	128709990	+	Silent	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:128709990C>T	ENST00000371113.4	+	17	1995	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	OCRL_ENST00000357121.5_Silent_p.Y610Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	610	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.Y610Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ACAGCCAGTACTGCAAGCCAT	0.468																																						uc004euq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4	GRCh37	CM011450	OCRL	M		c.(1828-1830)TAC>TAT		phosphatidylinositol polyphosphate 5-phosphatase							148.0	140.0	143.0					X																	128709990		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709990C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1830C>T	X.37:g.128709990C>T						OCRL_uc004eur.2_Silent_p.Y610Y	p.Y610Y	NM_000276	NP_000267	Q01968	OCRL_HUMAN			17	1995	+			610					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.1830C>T	CCDS35393.1																																																																																				PASS	0.468	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		6	272	6	272	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128722174	128722174	+	Missense_Mutation	SNP	C	C	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:128722174C>T	ENST00000371113.4	+	21	2440	c.2275C>T	c.(2275-2277)Cct>Tct	p.P759S	OCRL_ENST00000357121.5_Missense_Mutation_p.P751S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	759	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.P759S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GTTCCAGACCCCTGGAATGCA	0.473																																						uc004euq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(2275-2277)CCT>TCT		phosphatidylinositol polyphosphate 5-phosphatase							92.0	84.0	87.0					X																	128722174		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128722174C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2275C>T	X.37:g.128722174C>T	ENSP00000360154:p.Pro759Ser					OCRL_uc004eur.2_Missense_Mutation_p.P751S|OCRL_uc010nrb.2_5'Flank	p.P759S	NM_000276	NP_000267	Q01968	OCRL_HUMAN			21	2440	+			759			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2275C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336800	0.81801	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.37752	1.18;1.18	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.50333	1.59	0.80722	D	1	D;P	0.89917	1.0;0.756	D;P	0.91635	0.999;0.531	T	0.52177	-0.8610	10	0.42905	T	0.14	.	16.8958	0.86100	0.0:1.0:0.0:0.0	.	751;759	Q01968-2;Q01968	.;OCRL_HUMAN	S	759;751	ENSP00000360154:P759S;ENSP00000349635:P751S	ENSP00000349635:P751S	P	+	1	0	OCRL	128549855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.283000	0.78640	2.301000	0.77427	0.600000	0.82982	CCT		PASS	0.473	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		16	139	16	139	---	---	---	---
MIR363	574031	broad.mit.edu	37	X	133304101	133304101	+	RNA	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:133304101C>A	ENST00000384840.1	-	0	0				MIR92A2_ENST00000385299.1_RNA|MIR106A_ENST00000384870.1_RNA|MIR20B_ENST00000384977.1_RNA|MIR18B_ENST00000454574.2_RNA|MIR19B2_ENST00000385077.2_RNA	NR_029852.1				microRNA 363																		GCAGTAGATTCTAAGCTGCTT	0.388																																						hsa-mir-18b|MI0001518																			0					0															99.0	78.0	84.0					X																	133304101		1568	3582	5150			574033							g.chrX:133304101C>A			Xq26.2	2012-03-12		2008-12-18	ENSG00000207572	ENSG00000207572		"""ncRNAs / Micro RNAs"""	32023	non-coding RNA	RNA, micro				MIRN363			Standard	NR_029852		Approved	hsa-mir-363, MIR-363	uc022ceb.1				X.37:g.133304101C>A						MIR363_hsa-mir-363|MI0000764_5'Flank|MIR92A2_hsa-mir-92a-2|MI0000094_5'Flank|uc004exf.2_5'Flank|uc011mvi.1_5'Flank|MIR19B2_hsa-mir-19b-2|MI0000075_5'Flank|MIR20B_hsa-mir-20b|MI0001519_5'Flank										-									RNA	SNP	ENST00000384840.1	37	c.41C>A																																																																																					PASS	0.388	MIR363-201	KNOWN	basic	miRNA	miRNA		NR_029852		4	104	4	104	---	---	---	---
FAM127C	441518	broad.mit.edu	37	X	134156424	134156424	+	Silent	SNP	G	G	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:134156424G>A	ENST00000391440.1	-	1	135	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	22								p.R22R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTTCCTCCAGCGACGCGCCG	0.647																																						uc004eyc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)CGC>CGT		family with sequence similarity 127, member C							68.0	74.0	72.0					X																	134156424		2028	4158	6186	SO:0001819	synonymous_variant	441518							g.chrX:134156424G>A	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.66C>T	X.37:g.134156424G>A							p.R22R	NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN			1	143	-	Acute lymphoblastic leukemia(192;0.000127)		22						Silent	SNP	ENST00000391440.1	37	c.66C>T	CCDS43996.1																																																																																				PASS	0.647	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173		17	119	17	119	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135443706	135443706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:135443706A>T	ENST00000394143.1	+	12	7528	c.7237A>T	c.(7237-7239)Aga>Tga	p.R2413*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.R2413*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.R2208*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.R2211*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.R2208*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2413					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2413*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCCAAACCAGATGCATAAA	0.418																																						uc004ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7237-7239)AGA>TGA		G-protein coupled receptor 112							152.0	114.0	127.0					X																	135443706		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135443706A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7237A>T	X.37:g.135443706A>T	ENSP00000377699:p.Arg2413*					GPR112_uc010nsb.1_Nonsense_Mutation_p.R2208*|GPR112_uc010nsc.1_Nonsense_Mutation_p.R2041*	p.R2413*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			12	7528	+	Acute lymphoblastic leukemia(192;0.000127)		2413			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.7237A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	48	14.116018	0.99780	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	5.79	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5359	0.12028	0.7047:0.1966:0.0987:0.0	.	.	.	.	X	2413;2413;2208;2211;2208	.	ENSP00000287534:R2211X	R	+	1	2	GPR112	135271372	0.793000	0.28825	0.378000	0.26068	0.164000	0.22412	1.378000	0.34328	0.789000	0.33779	0.486000	0.48141	AGA		PASS	0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			10	127	10	127	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135738538	135738538	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:135738538G>T	ENST00000370629.2	+	4	426	c.370G>T	c.(370-372)Gca>Tca	p.A124S	CD40LG_ENST00000370628.2_Intron	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	124					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)	p.A124S(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					TCAAATTGCGGCACATGTCAT	0.463									Immune Deficiency with Hyper-IgM																													uc004faa.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)GCA>TCA		CD40 ligand	Atorvastatin(DB01076)						171.0	144.0	153.0					X																	135738538		2203	4300	6503	SO:0001583	missense	959	Immune_Deficiency_with_Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135738538G>T	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.370G>T	X.37:g.135738538G>T	ENSP00000359663:p.Ala124Ser					CD40LG_uc010nsd.2_Intron|CD40LG_uc010nse.1_RNA	p.A124S	NM_000074	NP_000065	P29965	CD40L_HUMAN			4	442	+	Acute lymphoblastic leukemia(192;0.000127)		124			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370629.2	37	c.370G>T	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872737	0.72180	.	.	ENSG00000102245	ENST00000370629	D	0.98493	-4.96	5.5	5.5	0.81552	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.117483	0.56097	D	0.000037	D	0.96873	0.8979	L	0.29908	0.895	0.80722	D	1	P	0.42649	0.786	P	0.49421	0.61	D	0.97222	0.9878	10	0.59425	D	0.04	.	13.688	0.62529	0.0:0.0:1.0:0.0	.	124	P29965	CD40L_HUMAN	S	124	ENSP00000359663:A124S	ENSP00000359663:A124S	A	+	1	0	CD40LG	135566204	0.887000	0.30362	0.706000	0.30403	0.954000	0.61252	3.281000	0.51685	2.299000	0.77371	0.600000	0.82982	GCA		PASS	0.463	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		27	140	27	140	---	---	---	---
F9	2158	broad.mit.edu	37	X	138644099	138644099	+	Missense_Mutation	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:138644099G>T	ENST00000218099.2	+	8	1262	c.1255G>T	c.(1255-1257)Gtg>Ttg	p.V419L	F9_ENST00000394090.2_Missense_Mutation_p.V381L	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	419	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		V -> E (in HEMB; moderately severe). {ECO:0000269|PubMed:8076946, ECO:0000269|PubMed:8199596}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.V419L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGTTACTGAAGTGGAAGGGAC	0.428																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1255-1257)GTG>TTG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						108.0	105.0	106.0					X																	138644099		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138644099G>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1255G>T	X.37:g.138644099G>T	ENSP00000218099:p.Val419Leu					F9_uc004fat.1_Missense_Mutation_p.V381L	p.V419L	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1284	+	Acute lymphoblastic leukemia(192;0.000127)		419		V -> E (in HEMB; moderately severe).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1255G>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065251	0.55432	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.88354	-2.37;-2.37	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.479700	0.21957	N	0.066641	T	0.79616	0.4476	N	0.03999	-0.3	0.21861	N	0.999507	P;B	0.38167	0.621;0.255	P;B	0.45474	0.482;0.131	T	0.71781	-0.4489	10	0.62326	D	0.03	.	6.1489	0.20301	0.0992:0.0:0.7122:0.1886	.	381;419	Q5FBE1;P00740	.;FA9_HUMAN	L	419;381	ENSP00000218099:V419L;ENSP00000377650:V381L	ENSP00000218099:V419L	V	+	1	0	F9	138471765	0.013000	0.17824	1.000000	0.80357	0.980000	0.70556	1.536000	0.36072	2.356000	0.79943	0.600000	0.82982	GTG		PASS	0.428	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			79	128	79	128	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138870478	138870478	+	Missense_Mutation	SNP	C	C	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:138870478C>A	ENST00000327569.3	-	14	1500	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	ATP11C_ENST00000361648.2_Missense_Mutation_p.A468S|ATP11C_ENST00000359686.2_Missense_Mutation_p.A468S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.A468S|ATP11C_ENST00000370557.1_Missense_Mutation_p.A465S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	468					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A468S(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAACACAAGGCACGTAGAAAC	0.373																																						uc004faz.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(1402-1404)GCC>TCC		ATPase, class VI, type 11C isoform a							109.0	90.0	96.0					X																	138870478		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138870478C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1402G>T	X.37:g.138870478C>A	ENSP00000332756:p.Ala468Ser					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A468S	p.A468S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			14	1501	-	Acute lymphoblastic leukemia(192;0.000127)		468			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1402G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671987	0.88348	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.62	5.62	0.85841	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	M	0.70842	2.15	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80668	-0.1280	10	0.62326	D	0.03	.	17.5413	0.87849	0.0:1.0:0.0:0.0	.	468;468	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	465;468;468;468;468	ENSP00000359588:A465S;ENSP00000355165:A468S;ENSP00000332756:A468S;ENSP00000359574:A468S;ENSP00000352715:A468S	ENSP00000332756:A468S	A	-	1	0	ATP11C	138698144	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.373000	0.79623	2.358000	0.79984	0.544000	0.68410	GCC		PASS	0.373	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		26	147	26	147	---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141291463	141291463	+	Missense_Mutation	SNP	C	C	G			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:141291463C>G	ENST00000247452.3	-	3	658	c.311G>C	c.(310-312)tGc>tCc	p.C104S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	104	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.C104S(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGGAGCAGCAGGAGCT	0.562										HNSCC(46;0.14)																												uc004fbu.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(310-312)TGC>TCC		melanoma antigen family C, 2							73.0	69.0	71.0					X																	141291463		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291463C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.311G>C	X.37:g.141291463C>G	ENSP00000354660:p.Cys104Ser	HNSCC(46;0.14)					p.C104S	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	659	-	Acute lymphoblastic leukemia(192;6.56e-05)		104			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.311G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.122106	0.00031	.	.	ENSG00000046774	ENST00000247452	T	0.03831	3.79	1.16	-2.32	0.06745	Melanoma associated antigen, MAGE, N-terminal (1);	12.502600	0.00877	N	0.002085	T	0.02156	0.0067	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.38950	-0.9637	10	0.13853	T	0.58	.	2.9079	0.05727	0.4009:0.2496:0.3495:0.0	.	104	Q9UBF1	MAGC2_HUMAN	S	104	ENSP00000354660:C104S	ENSP00000354660:C104S	C	-	2	0	MAGEC2	141119129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.346000	0.07760	-1.271000	0.02430	-1.436000	0.01078	TGC		PASS	0.562	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		25	117	25	117	---	---	---	---
MIR892A	100126342	broad.mit.edu	37	X	145076308	145076308	+	RNA	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:145076308T>A	ENST00000401124.1	-	0	75				MIR888_ENST00000401186.1_RNA|hsa-mir-892c_ENST00000516410.1_RNA|MIR892B_ENST00000401279.1_RNA|MIR890_ENST00000401256.1_RNA	NR_030584.1				microRNA 892a																		TTGGTGAGCCTTCCTTCACCC	0.498																																						hsa-mir-888|MI0005537																			0					0															61.0	45.0	50.0					X																	145076308		1568	3582	5150			100126306							g.chrX:145076308T>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145076308T>A						MIR890_hsa-mir-890|MI0005533_5'Flank										-									RNA	SNP	ENST00000401124.1	37	c.71T>A																																																																																					PASS	0.498	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		9	57	9	57	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147009842	147009842	+	Silent	SNP	G	G	T			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:147009842G>T	ENST00000370475.4	+	4	329	c.201G>T	c.(199-201)gtG>gtT	p.V67V	FMR1_ENST00000334557.6_Silent_p.V67V|FMR1_ENST00000370477.1_Silent_p.V67V|FMR1_ENST00000370471.3_Silent_p.V67V|FMR1_ENST00000370470.1_Silent_p.V67V|FMR1_ENST00000218200.8_Silent_p.V67V|FMR1_ENST00000439526.2_Silent_p.V67V|FMR1_ENST00000440235.2_5'Flank	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	67	Agenet-like 2.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V67V(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGTAGGTGTATTCCAGAG	0.323									Fragile X syndrome																													uc010nst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(199-201)GTG>GTT		fragile X mental retardation 1							144.0	151.0	149.0					X																	147009842		2203	4300	6503	SO:0001819	synonymous_variant	2332	Fragile_X_syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147009842G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.201G>T	X.37:g.147009842G>T						FMR1_uc011mwz.1_Silent_p.V67V|FMR1_uc004fcj.2_Silent_p.V67V|FMR1_uc004fck.3_Silent_p.V67V|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	p.V67V	NM_002024	NP_002015	Q06787	FMR1_HUMAN			4	390	+	Acute lymphoblastic leukemia(192;6.56e-05)		67					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	c.201G>T	CCDS14682.1																																																																																				PASS	0.323	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		59	281	59	281	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152159451	152159451	+	Missense_Mutation	SNP	A	A	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:152159451A>C	ENST00000439251.1	-	2	1130	c.692T>G	c.(691-693)cTa>cGa	p.L231R	PNMA5_ENST00000361887.5_Missense_Mutation_p.L231R|PNMA5_ENST00000535214.1_Missense_Mutation_p.L231R|PNMA5_ENST00000452693.1_Missense_Mutation_p.L231R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	231					positive regulation of apoptotic process (GO:0043065)			p.L231R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTGCTTTAGGGCGTCAAG	0.522																																						uc010ntw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(691-693)CTA>CGA		paraneoplastic antigen like 5							66.0	65.0	65.0					X																	152159451		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159451A>C	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.692T>G	X.37:g.152159451A>C	ENSP00000388850:p.Leu231Arg					PNMA5_uc004fha.3_Missense_Mutation_p.L231R|PNMA5_uc010ntx.2_Missense_Mutation_p.L231R|PNMA5_uc004fgy.3_Missense_Mutation_p.L231R	p.L231R	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	1031	-	Acute lymphoblastic leukemia(192;6.56e-05)		231					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.692T>G	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549569	0.45383	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	3.0	3.0	0.34707	.	.	.	.	.	T	0.35189	0.0923	M	0.79926	2.475	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05852	-1.0860	9	0.87932	D	0	.	6.9525	0.24552	1.0:0.0:0.0:0.0	.	231	Q96PV4	PNMA5_HUMAN	R	231	ENSP00000354834:L231R;ENSP00000445775:L231R;ENSP00000388850:L231R;ENSP00000392342:L231R	ENSP00000354834:L231R	L	-	2	0	PNMA5	151910107	0.973000	0.33851	0.018000	0.16275	0.033000	0.12548	4.067000	0.57527	1.448000	0.47680	0.381000	0.24937	CTA		PASS	0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		23	175	23	175	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153596279	153596279	+	Missense_Mutation	SNP	T	T	C			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:153596279T>C	ENST00000369850.3	-	3	789	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	FLNA_ENST00000344736.4_Missense_Mutation_p.I185V|FLNA_ENST00000422373.1_Missense_Mutation_p.I185V|FLNA_ENST00000360319.4_Missense_Mutation_p.I185V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	185	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.I185V(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGTGATGGGCAGCTGC	0.682																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(553-555)ATC>GTC		filamin A, alpha isoform 2							45.0	50.0	49.0					X																	153596279		2057	4205	6262	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596279T>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.553A>G	X.37:g.153596279T>C	ENSP00000358866:p.Ile185Val					FLNA_uc010nuu.1_Missense_Mutation_p.I185V	p.I185V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			3	802	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		185			CH 2.|Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.553A>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271426	0.40194	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.13	5.13	0.70059	Calponin homology domain (5);	0.065663	0.64402	D	0.000018	D	0.88592	0.6478	N	0.20357	0.565	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.20384	0.017;0.029	D	0.84288	0.0498	10	0.52906	T	0.07	.	8.7614	0.34676	0.0:0.0862:0.0:0.9138	.	185;185	P21333-2;P21333	.;FLNA_HUMAN	V	185;158;185;185;185	ENSP00000353467:I185V;ENSP00000416926:I185V;ENSP00000358866:I185V;ENSP00000358863:I185V	ENSP00000358863:I185V	I	-	1	0	FLNA	153249473	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.157000	0.64911	1.693000	0.51124	0.414000	0.27820	ATC		PASS	0.682	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	51	4	51	---	---	---	---
G6PD	2539	broad.mit.edu	37	X	153774349	153774349	+	Missense_Mutation	SNP	T	T	A			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chrX:153774349T>A	ENST00000393564.2	-	2	134	c.22A>T	c.(22-24)Agc>Tgc	p.S8C	G6PD_ENST00000393562.2_Missense_Mutation_p.S38C|IKBKG_ENST00000263518.6_5'Flank|IKBKG_ENST00000369607.1_Intron|IKBKG_ENST00000369601.3_5'Flank|IKBKG_ENST00000369602.3_5'Flank|IKBKG_ENST00000393549.2_5'Flank|IKBKG_ENST00000455588.2_5'Flank|IKBKG_ENST00000369609.5_Intron|G6PD_ENST00000369620.2_Missense_Mutation_p.S8C|G6PD_ENST00000497281.1_5'Flank|IKBKG_ENST00000369606.4_5'Flank|IKBKG_ENST00000470142.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	8					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.S38C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	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)					TGGGTCCGGCTCAGGGCCACC	0.547																																						uc004fly.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(22-24)AGC>TGC		glucose-6-phosphate dehydrogenase isoform b							119.0	110.0	113.0					X																	153774349		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153774349T>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.22A>T	X.37:g.153774349T>A	ENSP00000377194:p.Ser8Cys					G6PD_uc004flx.1_Missense_Mutation_p.S38C|IKBKG_uc011mzr.1_Intron|IKBKG_uc010nva.2_5'Flank|IKBKG_uc004fmb.3_5'Flank|IKBKG_uc011mzs.1_5'Flank|IKBKG_uc004fma.3_5'Flank|IKBKG_uc004fmc.3_5'Flank|IKBKG_uc004fmd.2_5'Flank	p.S8C	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			2	135	-	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)		8					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.22A>T	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649941	0.67472	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99014	-5.32;-5.31;-5.33;-5.28;-5.17;-4.76	5.78	5.78	0.91487	.	0.228496	0.45867	D	0.000333	D	0.97732	0.9256	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.68353	0.8;0.957	D	0.98463	1.0597	10	0.87932	D	0	.	11.3007	0.49304	0.0:0.0:0.0:1.0	.	8;38	P11413;P11413-3	G6PD_HUMAN;.	C	38;8;8;8;8;8;8	ENSP00000377192:S38C;ENSP00000377194:S8C;ENSP00000358633:S8C;ENSP00000395599:S8C;ENSP00000400648:S8C;ENSP00000394690:S8C	ENSP00000291567:S8C	S	-	1	0	G6PD	153427543	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	3.176000	0.50863	1.940000	0.56252	0.486000	0.48141	AGC		PASS	0.547	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		46	225	46	225	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301700	113301700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-2578-01A-01D-1522-08	TCGA-43-2578-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7ce90b30-d372-4edb-9807-b71cb5eb4cb7	0f1ffefd-58ed-4a47-a4fc-9b0aa52f45ba	g.chr8:113301700delC	ENST00000297405.5	-	57	9286	c.9042delG	c.(9040-9042)gggfs	p.G3014fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.G2944fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.G2845fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.G2974fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3014	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACAGTAGACCCAAAAGTAT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9040-9042)GGGfs		CUB and Sushi multiple domains 3 isoform 1							84.0	74.0	77.0					8																	113301700		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113301700delC	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.9042delG	8.37:g.113301700delC	ENSP00000297405:p.Gly3014fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.G2216fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.G2974fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.G2845fs	p.G3014fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9201	-			3014			Sushi 21.|Extracellular (Potential).		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.9042delG	CCDS6315.1																																																																																					0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		128	82	128	82	---	---	---	---
