#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ENO1	2023	broad.mit.edu	37	1	8934961	8934961	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:8934961T>C	ENST00000234590.4	-	2	126	c.7A>G	c.(7-9)Att>Gtt	p.I3V	ENO1-IT1_ENST00000414948.1_RNA	NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	3					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATCTTGAGAATAGACATGGTG	0.448																																					Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(7-9)ATT>GTT		enolase 1							90.0	81.0	84.0					1																	8934961		2203	4300	6503	SO:0001583	missense	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8934961T>C	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.7A>G	1.37:g.8934961T>C	ENSP00000234590:p.Ile3Val					ENO1_uc001apk.1_5'UTR|ENO1_uc001apl.1_Missense_Mutation_p.I3V|ENO1_uc009vmi.1_Missense_Mutation_p.I3V|ENO1_uc009vmj.1_Missense_Mutation_p.I3V|ENO1_uc009vmk.1_5'UTR|ENO1_uc009vml.1_Missense_Mutation_p.I3V|ENO1_uc009vmm.1_RNA	p.I3V	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	2	158	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	3					B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	ENST00000234590.4	37	c.7A>G	CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578761	0.46006	.	.	ENSG00000074800	ENST00000234590	T	0.48836	0.8	5.53	1.81	0.25067	Enolase, N-terminal (1);	0.051850	0.85682	N	0.000000	T	0.40473	0.1118	L	0.54908	1.71	0.35433	D	0.794209	B	0.06786	0.001	B	0.17722	0.019	T	0.40421	-0.9564	10	0.48119	T	0.1	-7.7785	9.2191	0.37366	0.0:0.2154:0.0:0.7846	.	3	P06733	ENOA_HUMAN	V	3	ENSP00000234590:I3V	ENSP00000234590:I3V	I	-	1	0	ENO1	8857548	1.000000	0.71417	0.972000	0.41901	0.818000	0.46254	4.185000	0.58330	0.112000	0.17975	-0.250000	0.11733	ATT		0.448	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1		NM_001428		38	38	0	0	0	0.007835	0	38	38		
PRRC2C	23215	broad.mit.edu	37	1	171510162	171510162	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:171510162G>T	ENST00000338920.4	+	16	3788	c.3551G>T	c.(3550-3552)gGa>gTa	p.G1184V	PRRC2C_ENST00000367742.3_Missense_Mutation_p.G1186V|PRRC2C_ENST00000426496.2_Missense_Mutation_p.G1184V|PRRC2C_ENST00000392078.3_Missense_Mutation_p.G1186V	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1184					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										CCAGATCAAGGATACAGAGGT	0.493																																						uc010pmg.1		NaN																	0					0						c.(3550-3552)GGA>GTA		HBxAg transactivated protein 2							73.0	74.0	74.0					1																	171510162		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171510162G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3551G>T	1.37:g.171510162G>T	ENSP00000343629:p.Gly1184Val					BAT2L2_uc010pmh.1_Missense_Mutation_p.G161V	p.G1184V	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3817	+			1184					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3551G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322597	0.23994	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02345	4.34;4.33;4.34;4.34	5.73	5.73	0.89815	.	0.000000	0.46442	D	0.000285	T	0.08358	0.0208	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.10753	-1.0616	10	0.87932	D	0	.	19.9022	0.96990	0.0:0.0:1.0:0.0	.	1184	Q9Y520-4	.	V	1186;1185;1184;1186;1184;941	ENSP00000375928:G1186V;ENSP00000410219:G1184V;ENSP00000356716:G1186V;ENSP00000343629:G1184V	ENSP00000343629:G1184V	G	+	2	0	PRRC2C	169776786	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.118000	0.57884	2.687000	0.91594	0.655000	0.94253	GGA		0.493	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		13	64	1	0	4.36969e-10	0.001855	5.34073e-10	13	64		
HMCN1	83872	broad.mit.edu	37	1	185972852	185972852	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:185972852C>G	ENST00000271588.4	+	29	4580	c.4351C>G	c.(4351-4353)Cca>Gca	p.P1451A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1451A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1451					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTCAAGTTCCACCCACCAT	0.433																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(4351-4353)CCA>GCA		hemicentin 1 precursor							149.0	135.0	140.0					1																	185972852		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185972852C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4351C>G	1.37:g.185972852C>G	ENSP00000271588:p.Pro1451Ala						p.P1451A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			29	4580	+			1451					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.4351C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815675	0.90790	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73575	-0.76;-0.76	5.86	5.86	0.93980	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.64630	1.985	0.80722	D	1	P	0.35612	0.512	B	0.35073	0.195	T	0.73291	-0.4029	10	0.42905	T	0.14	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	1451	Q96RW7	HMCN1_HUMAN	A	1451	ENSP00000271588:P1451A;ENSP00000356462:P1451A	ENSP00000271588:P1451A	P	+	1	0	HMCN1	184239475	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.829000	0.75314	2.781000	0.95711	0.650000	0.86243	CCA		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		7	119	0	0	0	0.00308	0	7	119		
CENPF	1063	broad.mit.edu	37	1	214814730	214814730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:214814730C>T	ENST00000366955.3	+	12	3217	c.3049C>T	c.(3049-3051)Cag>Tag	p.Q1017*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTTATCTGATCAGTACAAGCA	0.333																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(3049-3051)CAG>TAG		centromere protein F							62.0	70.0	67.0					1																	214814730		2185	4294	6479	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214814730C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3049C>T	1.37:g.214814730C>T	ENSP00000355922:p.Gln1017*						p.Q1017*	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3223	+			1017			Potential.		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.3049C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	40	8.443612	0.98813	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.16	4.18	0.49190	.	0.000000	0.36134	N	0.002771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.8953	0.18935	0.3233:0.575:0.0:0.1016	.	.	.	.	X	1017	.	ENSP00000355922:Q1017X	Q	+	1	0	CENPF	212881353	0.007000	0.16637	0.998000	0.56505	0.988000	0.76386	1.529000	0.35996	2.403000	0.81681	0.609000	0.83330	CAG		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		16	79	0	0	0	0.006122	0	16	79		
OR2B11	127623	broad.mit.edu	37	1	247614709	247614709	+	Silent	SNP	C	C	T	rs367979713		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:247614709C>T	ENST00000318749.6	-	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCAGCACACGACAGCTTGA	0.562																																						uc010pyx.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(574-576)TCG>TCA		olfactory receptor, family 2, subfamily B,		T		0,4406		0,0,2203	61.0	62.0	62.0		576	-10.2	0.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2B11	NM_001004492.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		192/318	247614709	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614709C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.576G>A	1.37:g.247614709C>T							p.S192S	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	576	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	192			Extracellular (Potential).		B2RP03	Silent	SNP	ENST00000318749.6	37	c.576G>A	CCDS31090.1																																																																																				0.562	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1		NM_001004492		7	32	0	0	0	0.001984	0	7	32		
OR11L1	391189	broad.mit.edu	37	1	248005058	248005058	+	Silent	SNP	G	G	A	rs202005304		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:248005058G>A	ENST00000355784.2	-	1	196	c.141C>T	c.(139-141)acC>acT	p.T47T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	47						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCACCACGGTGATGATGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20229	0.0		0.001	False		,,,				2504	0.0					uc001idn.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(139-141)ACC>ACT		olfactory receptor, family 11, subfamily L,		G		0,4406		0,0,2203	73.0	64.0	67.0		141	-8.4	0.0	1		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR11L1	NM_001001959.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		47/323	248005058	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005058G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.141C>T	1.37:g.248005058G>A							p.T47T	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	141	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		47			Cytoplasmic (Potential).			Silent	SNP	ENST00000355784.2	37	c.141C>T	CCDS31098.1																																																																																				0.522	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1		NM_001001959		10	27	0	0	0	0.013537	0	10	27		
WAC	51322	broad.mit.edu	37	10	28908493	28908493	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:28908493G>A	ENST00000354911.4	+	14	2063	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	WAC_ENST00000375664.4_Silent_p.K589K|WAC_ENST00000375646.1_Silent_p.K482K|WAC_ENST00000347934.4_Silent_p.K531K	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	634					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AACAAATTAAGGAACTTGAAA	0.318																																						uc001iuf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1900-1902)AAG>AAA		WW domain-containing adapter with a coiled-coil							51.0	52.0	52.0					10																	28908493		2201	4300	6501	SO:0001819	synonymous_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28908493G>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1902G>A	10.37:g.28908493G>A						WAC_uc001iud.2_Silent_p.K589K|WAC_uc001iue.2_Silent_p.K324K|WAC_uc001iug.2_Silent_p.K531K|WAC_uc001iuh.2_Silent_p.K585K	p.K634K	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			14	1987	+			634			Potential.		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	ENST00000354911.4	37	c.1902G>A	CCDS7159.1																																																																																				0.318	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1		NM_100264		11	25	0	0	0	0.001855	0	11	25		
LYZL2	119180	broad.mit.edu	37	10	30915167	30915167	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:30915167G>A	ENST00000375318.2	-	3	359	c.303C>T	c.(301-303)agC>agT	p.S101S		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	55					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGTTGTAGCCGCTCTCATAAT	0.557																																						uc001ivk.2		NaN																	0					0						c.(301-303)AGC>AGT		lysozyme-like 2							123.0	96.0	105.0					10																	30915167		2203	4300	6503	SO:0001819	synonymous_variant	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915167G>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.303C>T	10.37:g.30915167G>A							p.S101S	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			3	316	-		Prostate(175;0.151)	55					Q6NZ69	Silent	SNP	ENST00000375318.2	37	c.303C>T	CCDS7167.2																																																																																				0.557	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1		NM_183058		19	50	0	0	0	0.010504	0	19	50		
ADK	132	broad.mit.edu	37	10	76349059	76349059	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:76349059G>C	ENST00000286621.2	+	8	796	c.746G>C	c.(745-747)aGa>aCa	p.R249T	ADK_ENST00000372734.3_Missense_Mutation_p.R232T|ADK_ENST00000539909.1_Missense_Mutation_p.R192T|ADK_ENST00000541550.1_Missense_Mutation_p.R214T	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	249					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	ACTTTTGCTAGAGAGCAAGGC	0.338																																						uc001jwi.2		NaN																	0				ovary(1)|skin(1)	2						c.(745-747)AGA>ACA		adenosine kinase isoform b	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						88.0	90.0	89.0					10																	76349059		2203	4300	6503	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76349059G>C	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.746G>C	10.37:g.76349059G>C	ENSP00000286621:p.Arg249Thr					ADK_uc010qlb.1_Missense_Mutation_p.R192T|ADK_uc001jwj.2_Missense_Mutation_p.R232T|ADK_uc010qlc.1_Missense_Mutation_p.R214T|ADK_uc001jwl.2_Missense_Mutation_p.R19T	p.R249T	NM_006721	NP_006712	P55263	ADK_HUMAN			8	818	+	Prostate(51;0.0112)|Ovarian(15;0.148)		249					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.746G>C	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401493	0.25291	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.88	5.88	0.94601	Carbohydrate/purine kinase (1);	0.042781	0.85682	D	0.000000	D	0.83667	0.5304	N	0.22421	0.69	0.50467	D	0.999879	B;B;B;B	0.33964	0.01;0.005;0.434;0.011	B;B;B;B	0.34991	0.006;0.017;0.193;0.013	T	0.81737	-0.0796	10	0.36615	T	0.2	-19.9527	18.4171	0.90574	0.0:0.0:1.0:0.0	.	214;192;232;249	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	T	192;249;232;214	ENSP00000443965:R192T;ENSP00000286621:R249T;ENSP00000361819:R232T;ENSP00000438321:R214T	ENSP00000286621:R249T	R	+	2	0	ADK	76019065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.768000	0.74980	2.792000	0.96026	0.557000	0.71058	AGA		0.338	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1		NM_001123, NM_006721		13	67	0	0	0	0.003163	0	13	67		
GRID1	2894	broad.mit.edu	37	10	87487630	87487630	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:87487630G>T	ENST00000327946.7	-	10	1600	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	GRID1_ENST00000536331.1_Silent_p.I76I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	505					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGAGCTCCCCGATCATCCCGT	0.532										Multiple Myeloma(13;0.14)																												uc001kdl.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1513-1515)ATC>ATA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						105.0	98.0	100.0					10																	87487630		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487630G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1515C>A	10.37:g.87487630G>T		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Silent_p.I76I	p.I505I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1616	-			505			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1515C>A	CCDS31236.1																																																																																				0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613		13	51	1	0	3.52763e-06	0.00499	4.12077e-06	13	51		
SORCS3	22986	broad.mit.edu	37	10	106918731	106918731	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106918731C>A	ENST00000369701.3	+	11	1938	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	571					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGACAGCCCCAGGACTTGT	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1711-1713)CCA>ACA		VPS10 domain receptor protein SORCS 3 precursor							86.0	79.0	81.0					10																	106918731		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106918731C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1711C>A	10.37:g.106918731C>A	ENSP00000358715:p.Pro571Thr						p.P571T	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	11	1938	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	571			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1711C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638826	0.87760	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.59083	0.29;0.29	5.77	5.77	0.91146	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80388	-0.1403	9	.	.	.	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	571	Q9UPU3	SORC3_HUMAN	T	571;16	ENSP00000358715:P571T;ENSP00000376876:P16T	.	P	+	1	0	SORCS3	106908721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.890000	0.99128	0.650000	0.86243	CCA		0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		7	49	1	0	1.06961e-07	0.00308	1.28354e-07	7	49		
SORCS3	22986	broad.mit.edu	37	10	106937850	106937850	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:106937850G>T	ENST00000369701.3	+	14	2155	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	643					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCCACTCTTGGGACAAGTAT	0.463																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1927-1929)TGG>TTG		VPS10 domain receptor protein SORCS 3 precursor							245.0	211.0	222.0					10																	106937850		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937850G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1928G>T	10.37:g.106937850G>T	ENSP00000358715:p.Trp643Leu					SORCS3_uc010qqz.1_Intron	p.W643L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2155	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	643			BNR 6.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1928G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456578	0.84317	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83695	0.0179	9	.	.	.	.	18.1324	0.89605	0.0:0.0:1.0:0.0	.	643	Q9UPU3	SORC3_HUMAN	L	643;88	ENSP00000358715:W643L;ENSP00000376876:W88L	.	W	+	2	0	SORCS3	106927840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.987000	0.93497	2.559000	0.86315	0.460000	0.39030	TGG		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		12	54	1	0	0.000219431	0.00245	0.000249698	12	54		
OR5I1	10798	broad.mit.edu	37	11	55703362	55703362	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:55703362T>A	ENST00000301532.3	-	1	514	c.515A>T	c.(514-516)gAc>gTc	p.D172V		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	172					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AACATTTTTGTCACAATATTT	0.428																																						uc010ris.1		NaN																	0				ovary(1)	1						c.(514-516)GAC>GTC		olfactory receptor, family 5, subfamily I,							68.0	74.0	72.0					11																	55703362		2201	4292	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703362T>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.515A>T	11.37:g.55703362T>A	ENSP00000301532:p.Asp172Val						p.D172V	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	515	-			172			Extracellular (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.515A>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066457	0.55539	.	.	ENSG00000167825	ENST00000301532	T	0.00032	8.88	5.15	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000130	T	0.00241	0.0007	L	0.32530	0.975	0.45852	D	0.998716	D	0.89917	1.0	D	0.91635	0.999	D	0.88458	0.3053	10	0.72032	D	0.01	.	6.0627	0.19846	0.0:0.2787:0.0:0.7213	.	172	Q13606	OR5I1_HUMAN	V	172	ENSP00000301532:D172V	ENSP00000301532:D172V	D	-	2	0	OR5I1	55459938	0.000000	0.05858	0.948000	0.38648	0.997000	0.91878	-0.203000	0.09438	0.904000	0.36572	0.519000	0.50382	GAC		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1		NM_006637		17	39	0	0	0	0.006122	0	17	39		
CTSW	1521	broad.mit.edu	37	11	65650570	65650570	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:65650570C>T	ENST00000307886.3	+	8	822	c.776C>T	c.(775-777)cCc>cTc	p.P259L	CTSW_ENST00000528419.1_Missense_Mutation_p.P259L	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	259					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACTTATGGCCCCATCACCGTG	0.607																																						uc001ogc.1		NaN																	0				central_nervous_system(1)	1						c.(775-777)CCC>CTC		cathepsin W preproprotein							210.0	179.0	190.0					11																	65650570		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650570C>T	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.776C>T	11.37:g.65650570C>T	ENSP00000311300:p.Pro259Leu					CTSW_uc001ogb.1_Missense_Mutation_p.P259L	p.P259L	NM_001335	NP_001326	P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	8	818	+			259					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.776C>T	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259303	0.59321	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.63255	-0.03;-0.03	5.38	5.38	0.77491	Peptidase C1A, papain C-terminal (2);	0.081582	0.52532	D	0.000073	D	0.82875	0.5132	M	0.90922	3.16	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	D	0.86553	0.1836	10	0.87932	D	0	.	14.6208	0.68582	0.0:1.0:0.0:0.0	.	259;259	P56202;E9PI30	CATW_HUMAN;.	L	259	ENSP00000311300:P259L;ENSP00000436568:P259L	ENSP00000311300:P259L	P	+	2	0	CTSW	65407146	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	3.707000	0.54838	2.529000	0.85273	0.491000	0.48974	CCC		0.607	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1		NM_001335		60	177	0	0	0	0.01441	0	60	177		
BBS1	582	broad.mit.edu	37	11	66297375	66297375	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:66297375G>A	ENST00000318312.7	+	14	1476	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.L378L|BBS1_ENST00000393994.2_Silent_p.L346L|CTD-3074O7.11_ENST00000419755.3_Silent_p.L512L	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	475					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGTCCAGCCTGAGCCCCCTGT	0.667									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	0				ovary(1)	1						c.(1423-1425)CTG>CTA		Bardet-Biedl syndrome 1							57.0	39.0	45.0					11																	66297375		2200	4295	6495	SO:0001819	synonymous_variant	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66297375G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1425G>A	11.37:g.66297375G>A						BBS1_uc001oii.1_Silent_p.L512L|BBS1_uc010rpg.1_Silent_p.L378L|BBS1_uc001oik.1_Silent_p.L399L|BBS1_uc001oil.1_Silent_p.L346L|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Silent_p.L143L	p.L475L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			14	1437	+			475					Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	c.1425G>A	CCDS8142.1																																																																																				0.667	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2				5	17	0	0	0	0.001168	0	5	17		
FAT3	120114	broad.mit.edu	37	11	92085844	92085844	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:92085844C>G	ENST00000298047.6	+	1	583	c.566C>G	c.(565-567)tCc>tGc	p.S189C	FAT3_ENST00000409404.2_Missense_Mutation_p.S189C|FAT3_ENST00000541502.1_Missense_Mutation_p.S189C|FAT3_ENST00000525166.1_Missense_Mutation_p.S39C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATATTGGTTCCAATGGAGAA	0.408										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(565-567)TCC>TGC		FAT tumor suppressor homolog 3							58.0	57.0	57.0					11																	92085844		1856	4103	5959	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085844C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.566C>G	11.37:g.92085844C>G	ENSP00000298047:p.Ser189Cys	TCGA Ovarian(4;0.039)					p.S189C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	583	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	189			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.566C>G		.	.	.	.	.	.	.	.	.	.	C	20.2	3.945442	0.73672	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.26	5.26	0.73747	.	.	.	.	.	T	0.76147	0.3947	M	0.91612	3.225	0.44966	D	0.997982	D	0.89917	1.0	D	0.91635	0.999	T	0.81545	-0.0884	9	0.66056	D	0.02	.	18.2264	0.89918	0.0:1.0:0.0:0.0	.	189	Q8TDW7-3	.	C	189;189;189;39	ENSP00000298047:S189C;ENSP00000387040:S189C;ENSP00000443786:S189C;ENSP00000432586:S39C	ENSP00000298047:S189C	S	+	2	0	FAT3	91725492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.607000	0.88179	0.655000	0.94253	TCC		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		8	33	0	0	0	0.004482	0	8	33		
HEPHL1	341208	broad.mit.edu	37	11	93844208	93844208	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:93844208C>T	ENST00000315765.9	+	18	3193	c.3185C>T	c.(3184-3186)aCc>aTc	p.T1062I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1062	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGGAGACAACCTACACGGTC	0.512																																						uc001pep.2		NaN																	0				ovary(3)	3						c.(3184-3186)ACC>ATC		hephaestin-like 1 precursor							64.0	66.0	65.0					11																	93844208		2122	4255	6377	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93844208C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3185C>T	11.37:g.93844208C>T	ENSP00000313699:p.Thr1062Ile					uc001pen.1_Intron	p.T1062I	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			18	3342	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1062			Extracellular (Potential).|Plastocyanin-like 6.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.3185C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291284	0.59976	.	.	ENSG00000181333	ENST00000315765	D	0.99674	-6.36	5.97	5.97	0.96955	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.348037	0.33515	N	0.004821	D	0.99026	0.9667	L	0.50333	1.59	0.39967	D	0.974744	P	0.46277	0.875	P	0.48654	0.585	D	0.99900	1.1160	10	0.18276	T	0.48	-0.6106	13.6145	0.62099	0.0:0.9294:0.0:0.0706	.	1062	Q6MZM0	HPHL1_HUMAN	I	1062	ENSP00000313699:T1062I	ENSP00000313699:T1062I	T	+	2	0	HEPHL1	93483856	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.511000	0.53400	2.840000	0.97914	0.655000	0.94253	ACC		0.512	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		5	18	0	0	0	0.001168	0	5	18		
ATM	472	broad.mit.edu	37	11	108188181	108188181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:108188181G>A	ENST00000452508.2	+	44	6469	c.6280G>A	c.(6280-6282)Gaa>Aaa	p.E2094K	ATM_ENST00000278616.4_Missense_Mutation_p.E2094K|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2094	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGGTGTCCTGAACTAGAAGA	0.378			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(6280-6282)GAA>AAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							135.0	135.0	135.0					11																	108188181		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108188181G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6280G>A	11.37:g.108188181G>A	ENSP00000388058:p.Glu2094Lys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E2094K|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E746K|ATM_uc001pkg.1_Missense_Mutation_p.E451K	p.E2094K	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	43	6665	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2094			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6280G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146976	0.77888	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01560	4.77;4.77	5.58	4.62	0.57501	PIK-related kinase (1);Armadillo-type fold (1);	0.042943	0.85682	D	0.000000	T	0.06050	0.0157	M	0.75264	2.295	0.80722	D	1	D	0.54207	0.965	P	0.50314	0.637	T	0.22906	-1.0203	10	0.45353	T	0.12	.	15.9439	0.79779	0.0:0.1349:0.8651:0.0	.	2094	Q13315	ATM_HUMAN	K	2094	ENSP00000278616:E2094K;ENSP00000388058:E2094K	ENSP00000278616:E2094K	E	+	1	0	ATM	107693391	1.000000	0.71417	0.972000	0.41901	0.217000	0.24651	7.369000	0.79578	2.638000	0.89438	0.555000	0.69702	GAA		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		35	124	0	0	0	0.006999	0	35	124		
ARHGAP32	9743	broad.mit.edu	37	11	128839161	128839161	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr11:128839161C>G	ENST00000310343.9	-	22	5904	c.5905G>C	c.(5905-5907)Gag>Cag	p.E1969Q	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1620Q|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1620Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1969	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGTTCTTCCTCCTTGTAGCAG	0.537																																						uc009zcp.2		NaN																	0				lung(3)|ovary(2)	5						c.(5905-5907)GAG>CAG		Rho GTPase-activating protein isoform 1							121.0	116.0	118.0					11																	128839161		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839161C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5905G>C	11.37:g.128839161C>G	ENSP00000310561:p.Glu1969Gln					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.E928Q|ARHGAP32_uc001qez.2_Missense_Mutation_p.E1620Q	p.E1969Q	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	5905	-			1969			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5905G>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200670	0.58126	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.20598	2.06;2.06;2.06	6.07	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	M	0.66939	2.045	0.31546	N	0.659322	P	0.35507	0.506	B	0.26864	0.074	T	0.22941	-1.0202	10	0.37606	T	0.19	.	12.4287	0.55561	0.0:0.8171:0.1185:0.0645	.	1969	A7KAX9	RHG32_HUMAN	Q	1969;1620;1620	ENSP00000310561:E1969Q;ENSP00000376425:E1620Q;ENSP00000432862:E1620Q	ENSP00000310561:E1969Q	E	-	1	0	ARHGAP32	128344371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.330000	0.52068	1.577000	0.49804	0.655000	0.94253	GAG		0.537	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3		NM_014715		20	97	0	0	0	0.00333	0	20	97		
NUP107	57122	broad.mit.edu	37	12	69121136	69121136	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:69121136A>C	ENST00000229179.4	+	20	2033	c.1701A>C	c.(1699-1701)gaA>gaC	p.E567D	NUP107_ENST00000378905.2_Missense_Mutation_p.E416D|NUP107_ENST00000539906.1_Missense_Mutation_p.E538D	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	567					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGAAGGAGGAAGTTTCTATTG	0.234																																						uc001suf.2		NaN																	0				skin(1)	1						c.(1699-1701)GAA>GAC		nucleoporin 107kDa							52.0	59.0	56.0					12																	69121136		2198	4286	6484	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69121136A>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1701A>C	12.37:g.69121136A>C	ENSP00000229179:p.Glu567Asp					NUP107_uc001sug.2_Missense_Mutation_p.E414D|NUP107_uc010stj.1_Missense_Mutation_p.E538D	p.E567D	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		20	1816	+	Breast(13;6.25e-06)		567					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1701A>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457779	0.43634	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.57	5.57	0.84162	.	0.195571	0.53938	D	0.000059	T	0.44414	0.1292	L	0.31476	0.935	0.51233	D	0.99991	B;B;B	0.17465	0.022;0.001;0.022	B;B;B	0.25140	0.058;0.008;0.036	T	0.34054	-0.9844	8	.	.	.	-26.2548	10.4154	0.44318	0.927:0.0:0.073:0.0	.	538;416;567	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	D	567;416;538	.	.	E	+	3	2	NUP107	67407403	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.542000	0.36137	2.257000	0.74773	0.528000	0.53228	GAA		0.234	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		14	61	0	0	0	0.003163	0	14	61		
UTP20	27340	broad.mit.edu	37	12	101679598	101679598	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:101679598G>T	ENST00000261637.4	+	4	439	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	89					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAACGAGATAGTTCAGAGTTT	0.358																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(265-267)GTT>TTT		down-regulated in metastasis							112.0	112.0	112.0					12																	101679598		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.chr12:101679598G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.265G>T	12.37:g.101679598G>T	ENSP00000261637:p.Val89Phe					UTP20_uc009ztz.1_Missense_Mutation_p.V89F	p.V89F	NM_014503	NP_055318	O75691	UTP20_HUMAN			4	421	+			89					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.265G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251571	0.80135	.	.	ENSG00000120800	ENST00000261637	T	0.40476	1.03	5.56	4.66	0.58398	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.20505	-1.0273	10	0.11485	T	0.65	-20.034	14.8149	0.70028	0.0705:0.0:0.9295:0.0	.	89	O75691	UTP20_HUMAN	F	89	ENSP00000261637:V89F	ENSP00000261637:V89F	V	+	1	0	UTP20	100203729	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	7.791000	0.85805	2.602000	0.87976	0.650000	0.86243	GTT		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		30	80	1	0	3.80469e-20	0.009535	5.0222e-20	30	80		
CCDC60	160777	broad.mit.edu	37	12	119909888	119909888	+	Missense_Mutation	SNP	A	A	G	rs376220751		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:119909888A>G	ENST00000327554.2	+	3	725	c.260A>G	c.(259-261)cAg>cGg	p.Q87R	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	87										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAACAACTTCAGAAACTGAAA	0.423																																						uc001txe.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(259-261)CAG>CGG		coiled-coil domain containing 60							119.0	123.0	122.0					12																	119909888		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909888A>G	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.260A>G	12.37:g.119909888A>G	ENSP00000333374:p.Gln87Arg					uc001txf.2_Intron	p.Q87R	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	725	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		87			Potential.			Missense_Mutation	SNP	ENST00000327554.2	37	c.260A>G	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556929	0.27827	.	.	ENSG00000183273	ENST00000327554	T	0.25749	1.78	5.22	5.22	0.72569	.	0.485631	0.19067	N	0.123581	T	0.25791	0.0628	M	0.64997	1.995	0.80722	D	1	P	0.38078	0.617	B	0.34242	0.178	T	0.03840	-1.0999	9	.	.	.	-12.3358	11.4881	0.50365	1.0:0.0:0.0:0.0	.	87	Q8IWA6	CCD60_HUMAN	R	87	ENSP00000333374:Q87R	.	Q	+	2	0	CCDC60	118394271	0.948000	0.32251	0.902000	0.35471	0.121000	0.20230	1.791000	0.38744	1.949000	0.56562	0.421000	0.28195	CAG		0.423	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1		NM_178499		27	99	0	0	0	0.009535	0	27	99		
NCOR2	9612	broad.mit.edu	37	12	124846735	124846735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr12:124846735G>A	ENST00000405201.1	-	22	3037	c.3037C>T	c.(3037-3039)Cag>Tag	p.Q1013*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.Q996*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.Q995*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.Q995*|NCOR2_ENST00000356219.3_Nonsense_Mutation_p.Q1012*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.Q566*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1013					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCAGGCTGCTGAGGGGCGTCG	0.721																																						uc010tba.1		NaN																	0				skin(3)|ovary(1)	4						c.(3037-3039)CAG>TAG		nuclear receptor co-repressor 2 isoform 2							9.0	12.0	11.0					12																	124846735		1997	4140	6137	SO:0001587	stop_gained	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.chr12:124846735G>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.3037C>T	12.37:g.124846735G>A	ENSP00000384018:p.Gln1013*					NCOR2_uc010tay.1_Nonsense_Mutation_p.Q1012*|NCOR2_uc010taz.1_Nonsense_Mutation_p.Q996*|NCOR2_uc010tbb.1_Nonsense_Mutation_p.Q1013*|NCOR2_uc010tbc.1_Nonsense_Mutation_p.Q995*|NCOR2_uc001ugj.1_Nonsense_Mutation_p.Q1013*	p.Q1013*	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)	22	3154	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1013					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.3037C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	41	8.569986	0.98868	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	.	.	.	4.38	4.38	0.52667	.	0.885543	0.09637	N	0.775539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.3475	13.9683	0.64223	0.0:0.0:1.0:0.0	.	.	.	.	X	1013;995;1012;996;1012;566;995;1013	.	ENSP00000348551:Q1012X	Q	-	1	0	NCOR2	123412688	1.000000	0.71417	0.274000	0.24659	0.548000	0.35241	4.445000	0.60007	2.288000	0.76882	0.462000	0.41574	CAG		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		6	18	0	0	0	0.004482	0	6	18		
PDS5B	23047	broad.mit.edu	37	13	33315272	33315272	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:33315272G>C	ENST00000315596.10	+	22	2647	c.2461G>C	c.(2461-2463)Gag>Cag	p.E821Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	821					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTATCTCCTGAGACAATGGT	0.299																																						uc010abf.2		NaN																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(2461-2463)GAG>CAG		PDS5, regulator of cohesion maintenance, homolog							95.0	89.0	91.0					13																	33315272		1806	4061	5867	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33315272G>C	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2461G>C	13.37:g.33315272G>C	ENSP00000313851:p.Glu821Gln					PDS5B_uc010abg.2_RNA	p.E821Q	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	22	2619	+		Lung SC(185;0.0367)	821					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2461G>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002159	0.93227	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.68593	2.085	0.80722	D	1	D	0.61697	0.99	P	0.59825	0.864	T	0.71318	-0.4629	9	0.31617	T	0.26	-17.0242	19.0003	0.92830	0.0:0.0:1.0:0.0	.	821	Q9NTI5	PDS5B_HUMAN	Q	821	.	ENSP00000313851:E821Q	E	+	1	0	PDS5B	32213272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.095000	0.94175	2.735000	0.93741	0.655000	0.94253	GAG		0.299	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		NM_015032		12	44	0	0	0	0.00499	0	12	44		
NALCN	259232	broad.mit.edu	37	13	101944345	101944345	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr13:101944345G>C	ENST00000251127.6	-	9	1124	c.1043C>G	c.(1042-1044)aCc>aGc	p.T348S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.T348S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	348					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGTACCTGGGTGGTGGCTGT	0.468																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1042-1044)ACC>AGC		voltage gated channel like 1							297.0	233.0	255.0					13																	101944345		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944345G>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1043C>G	13.37:g.101944345G>C	ENSP00000251127:p.Thr348Ser					NALCN_uc001voy.2_Missense_Mutation_p.T63S|NALCN_uc001voz.2_Missense_Mutation_p.T348S|NALCN_uc001vpa.2_Missense_Mutation_p.T348S	p.T348S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			9	1232	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		348			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1043C>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417331	0.25552	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98264	-4.43;-4.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.91580	0.7340	N	0.00841	-1.15	0.80722	D	1	B;B;B	0.27656	0.063;0.184;0.039	B;B;B	0.24974	0.057;0.017;0.018	D	0.89505	0.3767	10	0.07813	T	0.8	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	348;348;348	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	S	348	ENSP00000251127:T348S;ENSP00000365367:T348S	ENSP00000251127:T348S	T	-	2	0	NALCN	100742346	1.000000	0.71417	0.968000	0.41197	0.970000	0.65996	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	ACC		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		13	101	0	0	0	0.006122	0	13	101		
SRP54	6729	broad.mit.edu	37	14	35480773	35480773	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:35480773G>A	ENST00000556994.1	+	9	941	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	SRP54_ENST00000216774.6_Missense_Mutation_p.E182K|SRP54_ENST00000555557.1_Missense_Mutation_p.E118K|SRP54_ENST00000546080.1_Missense_Mutation_p.E133K			P61011	SRP54_HUMAN	signal recognition particle 54kDa	182	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATTTAAAAATGAAAATTTTGA	0.313																																						uc001wso.2		NaN																	0				ovary(1)	1						c.(544-546)GAA>AAA		signal recognition particle 54kDa isoform 1							54.0	60.0	58.0					14																	35480773		2203	4289	6492	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35480773G>A	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.544G>A	14.37:g.35480773G>A	ENSP00000451818:p.Glu182Lys					SRP54_uc010tpp.1_Missense_Mutation_p.E133K|SRP54_uc010tpq.1_Missense_Mutation_p.E118K	p.E182K	NM_003136	NP_003127	P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	8	895	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		182			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.544G>A	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354104	0.95830	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	6.01	5.12	0.69794	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	L	0.47078	1.49	0.80722	D	1	P;P	0.51240	0.943;0.943	P;P	0.52957	0.714;0.628	T	0.63233	-0.6683	9	0.44086	T	0.13	-26.255	15.0143	0.71573	0.0678:0.0:0.9322:0.0	.	133;182	B4DUW6;P61011	.;SRP54_HUMAN	K	182;182;133;118	.	ENSP00000216774:E182K	E	+	1	0	SRP54	34550524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.624000	0.98398	1.556000	0.49512	0.585000	0.79938	GAA		0.313	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2		NM_003136		25	72	0	0	0	0.008361	0	25	72		
NIN	51199	broad.mit.edu	37	14	51206189	51206189	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:51206189A>G	ENST00000382041.3	-	26	5655	c.5465T>C	c.(5464-5466)aTa>aCa	p.I1822T	NIN_ENST00000245441.5_Missense_Mutation_p.I1822T|NIN_ENST00000453196.1_Missense_Mutation_p.I1822T|NIN_ENST00000389868.3_Missense_Mutation_p.I1109T|NIN_ENST00000324330.9_Missense_Mutation_p.I1822T|NIN_ENST00000382043.4_Missense_Mutation_p.I1109T|NIN_ENST00000530997.2_Missense_Mutation_p.I1822T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1822					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGAGTAGCTATCTCTGGGGC	0.463			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(5464-5466)ATA>ACA		ninein isoform 5							127.0	118.0	121.0					14																	51206189		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51206189A>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5465T>C	14.37:g.51206189A>G	ENSP00000371472:p.Ile1822Thr					NIN_uc001wyi.2_Missense_Mutation_p.I1822T|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.I1109T|NIN_uc010tqp.1_Missense_Mutation_p.I1828T|NIN_uc001wyo.2_Missense_Mutation_p.I1822T|NIN_uc001wyn.2_RNA	p.I1822T	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			26	5656	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1822					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.5465T>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	A	1.366	-0.587535	0.03799	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.85	-5.79	0.02354	.	1.505270	0.03555	N	0.226062	T	0.30103	0.0754	N	0.04043	-0.29	0.09310	N	1	B;B;B;B;B	0.20052	0.001;0.0;0.0;0.041;0.0	B;B;B;B;B	0.17433	0.002;0.001;0.001;0.018;0.002	T	0.14531	-1.0469	10	0.13853	T	0.58	0.8108	1.1962	0.01875	0.3929:0.1738:0.2628:0.1705	.	1828;1822;1822;1109;1822	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	T	1822;1805;1109;1109;1828;1822;1822;1822	ENSP00000245441:I1822T;ENSP00000374518:I1109T;ENSP00000371474:I1109T;ENSP00000371472:I1822T;ENSP00000324210:I1822T;ENSP00000412391:I1822T	ENSP00000245441:I1822T	I	-	2	0	NIN	50275939	0.009000	0.17119	0.003000	0.11579	0.007000	0.05969	0.048000	0.14078	-1.753000	0.01323	-2.096000	0.00365	ATA		0.463	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		15	47	0	0	0	0.006122	0	15	47		
SIX4	51804	broad.mit.edu	37	14	61186531	61186531	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:61186531C>T	ENST00000216513.4	-	2	1555	c.1496G>A	c.(1495-1497)aGc>aAc	p.S499N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	499					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAATCCAATGCTCCCATTAAG	0.478																																						uc001xfc.2		NaN																	0				breast(3)|ovary(1)	4						c.(1495-1497)AGC>AAC		sine oculis homeobox homolog 4							101.0	102.0	102.0					14																	61186531		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61186531C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1496G>A	14.37:g.61186531C>T	ENSP00000216513:p.Ser499Asn					SIX4_uc010app.1_Missense_Mutation_p.S491N	p.S499N	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1496	-			499					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1496G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415456	0.62511	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.90732	-2.72;0.84	5.72	5.72	0.89469	.	0.331949	0.37178	N	0.002220	D	0.85687	0.5754	N	0.24115	0.695	0.38973	D	0.95879	B;B	0.32245	0.277;0.361	B;B	0.29942	0.109;0.051	D	0.84778	0.0771	10	0.49607	T	0.09	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	491;499	G3V2N2;Q9UIU6	.;SIX4_HUMAN	N	499;172;491	ENSP00000216513:S499N;ENSP00000451537:S172N	ENSP00000216513:S499N	S	-	2	0	SIX4	60256284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.693000	0.47027	2.717000	0.92951	0.655000	0.94253	AGC		0.478	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2				20	84	0	0	0	0.004656	0	20	84		
GOLGA5	9950	broad.mit.edu	37	14	93299497	93299497	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:93299497C>A	ENST00000163416.2	+	10	2006	c.1750C>A	c.(1750-1752)Cag>Aag	p.Q584K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q584K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	584				QS -> PV (in Ref. 8; CAB36967). {ECO:0000305}.	Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CAATAGCAGTCAGTCTGAGTT	0.378			T	RET	papillary thyroid																																	uc001yaz.1		NaN		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				ovary(2)|lung(1)	3						c.(1750-1752)CAG>AAG		Golgi autoantigen, golgin subfamily a, 5							85.0	88.0	87.0					14																	93299497		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93299497C>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1750C>A	14.37:g.93299497C>A	ENSP00000163416:p.Gln584Lys					GOLGA5_uc001yba.1_5'UTR	p.Q584K	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	10	1932	+		all_cancers(154;0.0934)	584	QS -> PV (in Ref. 8; CAB36967).		Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1750C>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310602	0.95629	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.41758	0.99;0.99	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000411	T	0.54870	0.1885	L	0.39898	1.24	0.80722	D	1	D	0.58970	0.984	P	0.60886	0.88	T	0.48080	-0.9066	10	0.40728	T	0.16	-13.0617	19.7525	0.96273	0.0:1.0:0.0:0.0	.	584	Q8TBA6	GOGA5_HUMAN	K	584;584;493	ENSP00000163416:Q584K;ENSP00000348252:Q584K	ENSP00000163416:Q584K	Q	+	1	0	GOLGA5	92369250	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.726000	0.84824	2.669000	0.90835	0.591000	0.81541	CAG		0.378	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1				26	79	1	0	2.48696e-23	0.003271	3.31594e-23	26	79		
DICER1	23405	broad.mit.edu	37	14	95560364	95560364	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:95560364T>C	ENST00000526495.1	-	26	5516	c.5225A>G	c.(5224-5226)aAc>aGc	p.N1742S	DICER1_ENST00000343455.3_Missense_Mutation_p.N1742S|DICER1_ENST00000393063.1_Missense_Mutation_p.N1742S|DICER1_ENST00000541352.1_Missense_Mutation_p.N1742S|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000556045.1_Missense_Mutation_p.N640S|DICER1_ENST00000527414.1_Missense_Mutation_p.N1742S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1742	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAGATGGTGTTGTTGACCAG	0.512			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NaN	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5224-5226)AAC>AGC		dicer1							115.0	113.0	114.0					14																	95560364		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560364T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5225A>G	14.37:g.95560364T>C	ENSP00000437256:p.Asn1742Ser					DICER1_uc010avh.1_Missense_Mutation_p.N640S|DICER1_uc001ydv.2_Missense_Mutation_p.N1732S|DICER1_uc001ydx.2_Missense_Mutation_p.N1742S	p.N1742S	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5407	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1742			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5225A>G	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889655	0.91889	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.43	5.43	0.79202	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.88862	0.6552	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.982	D	0.89924	0.4061	10	0.66056	D	0.02	-30.8124	15.51	0.75772	0.0:0.0:0.0:1.0	.	640;1742	B3KRG4;Q9UPY3	.;DICER_HUMAN	S	1742;1742;1742;1742;640;1742	ENSP00000343745:N1742S;ENSP00000437256:N1742S;ENSP00000376783:N1742S;ENSP00000435681:N1742S;ENSP00000451041:N640S;ENSP00000444719:N1742S	ENSP00000343745:N1742S	N	-	2	0	DICER1	94630117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.630000	0.83225	2.062000	0.61559	0.533000	0.62120	AAC		0.512	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1				27	51	0	0	0	0.013726	0	27	51		
TLN2	83660	broad.mit.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:62939540C>T	ENST00000561311.1	+	3	261	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	RP11-625H11.1_ENST00000558940.1_5'Flank|TLN2_ENST00000306829.6_Missense_Mutation_p.R11C|RP11-625H11.1_ENST00000560347.1_5'Flank			Q9Y4G6	TLN2_HUMAN	talin 2	11					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATTTGTGTGCGCCACTGCAA	0.488																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(31-33)CGC>TGC		talin 2							169.0	145.0	153.0					15																	62939540		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62939540C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.31C>T	15.37:g.62939540C>T	ENSP00000453508:p.Arg11Cys					MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	p.R11C	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			1	31	+			11					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.31C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618480	0.87359	.	.	ENSG00000171914	ENST00000306829	T	0.68331	-0.32	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.58266	0.836	T	0.71368	-0.4614	10	0.56958	D	0.05	-13.1671	18.7456	0.91791	0.0:1.0:0.0:0.0	.	11	Q9Y4G6	TLN2_HUMAN	C	11	ENSP00000303476:R11C	ENSP00000303476:R11C	R	+	1	0	TLN2	60726832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.606000	0.67641	2.748000	0.94277	0.655000	0.94253	CGC		0.488	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				26	84	0	0	0	0.008361	0	26	84		
IREB2	3658	broad.mit.edu	37	15	78780657	78780657	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:78780657G>A	ENST00000258886.8	+	15	2079	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	644					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGAATATAGATTTCCAGAC	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	0					0						c.(1930-1932)GAT>AAT		iron-responsive element binding protein 2							128.0	125.0	126.0					15																	78780657		2196	4293	6489	SO:0001583	missense	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78780657G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1930G>A	15.37:g.78780657G>A	ENSP00000258886:p.Asp644Asn					IREB2_uc010unb.1_Missense_Mutation_p.D394N	p.D644N	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	15	2092	+			644					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	c.1930G>A	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574119	0.65765	.	.	ENSG00000136381	ENST00000258886	T	0.17854	2.25	5.4	5.4	0.78164	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.091916	0.64402	D	0.000001	T	0.21227	0.0511	L	0.56199	1.76	0.80722	D	1	B	0.20164	0.042	B	0.12156	0.007	T	0.02037	-1.1225	10	0.35671	T	0.21	-24.6721	19.1868	0.93647	0.0:0.0:1.0:0.0	.	644	P48200	IREB2_HUMAN	N	644	ENSP00000258886:D644N	ENSP00000258886:D644N	D	+	1	0	IREB2	76567712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.389000	0.73199	2.551000	0.86045	0.650000	0.86243	GAT		0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		17	77	0	0	0	0.012319	0	17	77		
KIAA1024	23251	broad.mit.edu	37	15	79750503	79750503	+	Missense_Mutation	SNP	G	G	A	rs550052834	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:79750503G>A	ENST00000305428.3	+	2	2089	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	672						integral component of membrane (GO:0016021)		p.G672R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGGCTCCCACGGACCCAAACT	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.002					uc002bew.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2014-2016)GGA>AGA		hypothetical protein LOC23251							165.0	164.0	165.0					15																	79750503		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750503G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2014G>A	15.37:g.79750503G>A	ENSP00000307461:p.Gly672Arg					KIAA1024_uc010unk.1_Missense_Mutation_p.G672R	p.G672R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2089	+			672					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2014G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	8.215	0.801206	0.16397	.	.	ENSG00000169330	ENST00000305428	T	0.31247	1.5	5.59	2.35	0.29111	.	0.537278	0.20780	N	0.085803	T	0.27134	0.0665	M	0.65975	2.015	0.09310	N	1	P	0.43662	0.814	B	0.35931	0.214	T	0.10245	-1.0638	9	.	.	.	.	9.4411	0.38668	0.2568:0.0:0.7432:0.0	.	672	Q9UPX6	K1024_HUMAN	R	672	ENSP00000307461:G672R	.	G	+	1	0	KIAA1024	77537558	0.998000	0.40836	0.000000	0.03702	0.026000	0.11368	3.483000	0.53194	0.182000	0.20032	0.591000	0.81541	GGA		0.547	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		NM_015206		100	236	0	0	0	0.01441	0	100	236		
HDGFRP3	50810	broad.mit.edu	37	15	83876119	83876119	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr15:83876119G>A	ENST00000299633.4	-	1	651	c.48C>T	c.(46-48)ttC>ttT	p.F16F	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		16	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCATCTTGGCGAAGACCAGGT	0.721																																						uc002bjs.1		NaN																	0					0						c.(46-48)TTC>TTT		hepatoma-derived growth factor, related protein							10.0	11.0	11.0					15																	83876119		2182	4270	6452	SO:0001819	synonymous_variant	50810				cell proliferation	nucleus	growth factor activity	g.chr15:83876119G>A																												ENST00000299633.4:c.48C>T	15.37:g.83876119G>A							p.F16F	NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN			1	203	-			16			PWWP.			Silent	SNP	ENST00000299633.4	37	c.48C>T	CCDS32314.1																																																																																				0.721	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1				3	16	0	0	0	0.009096	0	3	16		
CREBBP	1387	broad.mit.edu	37	16	3807992	3807992	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:3807992C>G	ENST00000262367.5	-	18	4236	c.3427G>C	c.(3427-3429)Gac>Cac	p.D1143H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1105H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1143	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with histone. {ECO:0000269|PubMed:24361270}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCCCTGTGTCCAGCTTCCGC	0.463			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3427-3429)GAC>CAC		CREB binding protein isoform a							110.0	94.0	99.0					16																	3807992		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807992C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3427G>C	16.37:g.3807992C>G	ENSP00000262367:p.Asp1143His					CREBBP_uc002cvw.2_Missense_Mutation_p.D1105H	p.D1143H	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	3631	-		Ovarian(90;0.0266)	1143			Bromo.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3427G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444421	0.43429	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.30448	1.53;1.53	5.74	4.77	0.60923	Bromodomain (6);Bromodomain, conserved site (1);	0.065670	0.64402	D	0.000010	T	0.42154	0.1190	L	0.39147	1.195	0.80722	D	1	P;P	0.39964	0.697;0.697	P;P	0.52909	0.713;0.713	T	0.29181	-1.0020	10	0.51188	T	0.08	-17.6198	16.0754	0.80965	0.1352:0.8648:0.0:0.0	.	1173;1143	Q4LE28;Q92793	.;CBP_HUMAN	H	1143;1173;1105	ENSP00000262367:D1143H;ENSP00000371502:D1105H	ENSP00000262367:D1143H	D	-	1	0	CREBBP	3747993	1.000000	0.71417	0.993000	0.49108	0.830000	0.47004	7.713000	0.84693	1.405000	0.46838	0.585000	0.79938	GAC		0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		9	31	0	0	0	0.010729	0	9	31		
ACSM5	54988	broad.mit.edu	37	16	20432694	20432694	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:20432694C>A	ENST00000331849.4	+	5	885	c.738C>A	c.(736-738)agC>agA	p.S246R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	246					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCAGAGCAGCTACGGACTGG	0.587																																						uc002dhe.2		NaN																	0				ovary(2)	2						c.(736-738)AGC>AGA		acyl-CoA synthetase medium-chain family member 5							36.0	35.0	35.0					16																	20432694		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20432694C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.738C>A	16.37:g.20432694C>A	ENSP00000327916:p.Ser246Arg						p.S246R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			5	885	+			246					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.738C>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177470	0.57692	.	.	ENSG00000183549	ENST00000331849	T	0.52526	0.66	4.43	4.43	0.53597	AMP-dependent synthetase/ligase (1);	0.168105	0.41712	D	0.000834	T	0.53932	0.1827	L	0.31476	0.935	0.37842	D	0.9291	D	0.89917	1.0	D	0.91635	0.999	T	0.60546	-0.7242	10	0.87932	D	0	-19.7751	10.298	0.43635	0.0:0.9046:0.0:0.0954	.	246	Q6NUN0	ACSM5_HUMAN	R	246	ENSP00000327916:S246R	ENSP00000327916:S246R	S	+	3	2	ACSM5	20340195	0.579000	0.26725	0.998000	0.56505	0.786000	0.44442	0.739000	0.26173	2.416000	0.81992	0.655000	0.94253	AGC		0.587	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888		9	33	1	0	0.00829132	0.008291	0.00927503	9	33		
SLC12A3	6559	broad.mit.edu	37	16	56920342	56920342	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:56920342C>G	ENST00000563236.1	+	16	2017	c.1992C>G	c.(1990-1992)acC>acG	p.T664T	SLC12A3_ENST00000262502.5_Silent_p.T663T|SLC12A3_ENST00000438926.2_Silent_p.T664T|SLC12A3_ENST00000566786.1_Silent_p.T663T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	664					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGTGGGCACCTTCACCCGGA	0.652																																						uc010ccm.2		NaN																	0				ovary(2)|breast(1)	3						c.(1990-1992)ACC>ACG		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						55.0	55.0	55.0					16																	56920342		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56920342C>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1992C>G	16.37:g.56920342C>G						SLC12A3_uc002ekd.3_Silent_p.T664T|SLC12A3_uc010ccn.2_Silent_p.T663T	p.T664T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			16	2021	+			664			Helical; (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1992C>G	CCDS58464.1																																																																																				0.652	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				12	100	0	0	0	0.004007	0	12	100		
PRMT7	54496	broad.mit.edu	37	16	68349908	68349908	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:68349908A>G	ENST00000339507.5	+	3	856	c.26A>G	c.(25-27)aAt>aGt	p.N9S	PRMT7_ENST00000348497.4_Missense_Mutation_p.N9S|snoU13_ENST00000458872.1_RNA|RP11-96D1.3_ENST00000563203.1_RNA|PRMT7_ENST00000564441.1_Intron|PRMT7_ENST00000449359.3_Missense_Mutation_p.N9S|PRMT7_ENST00000441236.1_Missense_Mutation_p.N9S			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	9					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AGTCGGGCCAATCCGACCACG	0.532																																						uc002evy.1		NaN																	0					0						c.(25-27)AAT>AGT		protein arginine methyltransferase 7							115.0	103.0	107.0					16																	68349908		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68349908A>G	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.26A>G	16.37:g.68349908A>G	ENSP00000343103:p.Asn9Ser					PRMT7_uc002evx.1_Missense_Mutation_p.N9S|PRMT7_uc010vlg.1_Missense_Mutation_p.N9S	p.N9S	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	3	302	+		Ovarian(137;0.192)	9					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.26A>G	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.908274	0.72868	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	D;T	0.81739	-1.53;0.44	5.82	5.82	0.92795	.	0.131363	0.64402	D	0.000001	D	0.89839	0.6831	M	0.82193	2.58	0.25880	N	0.983609	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.76071	0.972;0.987;0.98	D	0.84817	0.0794	10	0.66056	D	0.02	-26.9837	14.1298	0.65245	1.0:0.0:0.0:0.0	.	9;9;9	Q9NVM4-3;Q9NVM4;Q9NVM4-4	.;ANM7_HUMAN;.	S	9	ENSP00000345775:N9S;ENSP00000343103:N9S	ENSP00000343103:N9S	N	+	2	0	PRMT7	66907409	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	7.302000	0.78861	2.225000	0.72522	0.459000	0.35465	AAT		0.532	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3		NM_019023		13	53	0	0	0	0.012319	0	13	53		
SPIRE2	84501	broad.mit.edu	37	16	89916779	89916779	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:89916779G>A	ENST00000378247.3	+	3	399	c.356G>A	c.(355-357)cGc>cAc	p.R119H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R119H|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	119	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGCGAGGAGCGCGAACTCAGC	0.701																																						uc002foz.1		NaN																	0				central_nervous_system(1)	1						c.(355-357)CGC>CAC		spire homolog 2							18.0	17.0	17.0					16																	89916779		2190	4291	6481	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916779G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.356G>A	16.37:g.89916779G>A	ENSP00000367494:p.Arg119His					SPIRE2_uc010civ.1_Missense_Mutation_p.R34H|SPIRE2_uc010ciw.1_Missense_Mutation_p.R119H|SPIRE2_uc002fpa.1_Missense_Mutation_p.R71H|SPIRE2_uc010cix.1_5'UTR	p.R119H	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	3	408	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	119			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.356G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551562	0.96501	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.38240	1.15;1.15	5.48	5.48	0.80851	KIND (2);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.69213	-0.5204	10	0.52906	T	0.07	-0.5525	18.3227	0.90244	0.0:0.0:1.0:0.0	.	119;71;119	Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;SPIR2_HUMAN	H	119	ENSP00000367494:R119H;ENSP00000376782:R119H	ENSP00000367494:R119H	R	+	2	0	SPIRE2	88444280	1.000000	0.71417	0.959000	0.39883	0.951000	0.60555	8.824000	0.92023	2.592000	0.87571	0.471000	0.43371	CGC		0.701	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462		6	13	0	0	0	0.00308	0	6	13		
PRDM7	11105	broad.mit.edu	37	16	90127012	90127012	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:90127012C>A	ENST00000449207.2	-	9	989	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	324	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCTTCATCATCCCGGGCACAG	0.542																																						uc010cje.2		NaN																	0				ovary(1)	1						c.(970-972)GAT>TAT		PR domain containing 7 isoform 1							76.0	76.0	76.0					16																	90127012		1940	4123	6063	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90127012C>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.970G>T	16.37:g.90127012C>A	ENSP00000396732:p.Asp324Tyr					PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.D118Y	p.D324Y	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	990	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	324			SET.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.970G>T	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	0.658	-0.806968	0.02819	.	.	ENSG00000126856	ENST00000449207	D	0.85629	-2.01	2.23	-1.3	0.09259	SET domain (2);	.	.	.	.	T	0.76835	0.4043	L	0.45698	1.435	0.09310	N	1	P	0.43885	0.82	B	0.42522	0.39	T	0.65615	-0.6125	8	.	.	.	-4.8112	2.5763	0.04807	0.0:0.3652:0.2696:0.3652	.	324	Q9NQW5	PRDM7_HUMAN	Y	324	ENSP00000396732:D324Y	.	D	-	1	0	PRDM7	88654513	0.000000	0.05858	0.112000	0.21494	0.330000	0.28571	0.026000	0.13599	-0.138000	0.11434	-0.494000	0.04653	GAT		0.542	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1				8	92	1	0	4.68919e-08	0.008291	5.67865e-08	8	92		
DPH1	1801	broad.mit.edu	37	17	1939321	1939321	+	Silent	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:1939321G>T	ENST00000263083.6	+	4	396	c.351G>T	c.(349-351)gtG>gtT	p.V117V	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Silent_p.V37V	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	117					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTGCTGTGTGGATGACTTCA	0.652																																						uc002fts.2		NaN																	0				pancreas(1)	1						c.(349-351)GTG>GTT		diptheria toxin resistance protein required for							129.0	140.0	136.0					17																	1939321		2164	4246	6410	SO:0001819	synonymous_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1939321G>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.351G>T	17.37:g.1939321G>T						DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.V112V|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Silent_p.V127V|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank	p.V117V	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			4	369	+			117					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Silent	SNP	ENST00000263083.6	37	c.351G>T	CCDS42228.1																																																																																				0.652	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1		NM_001383		13	79	1	0	0.00316338	0.003163	0.00356894	13	79		
ABCA9	10350	broad.mit.edu	37	17	67029998	67029998	+	Missense_Mutation	SNP	T	T	C	rs138456095	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67029998T>C	ENST00000340001.4	-	9	1356	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C	ABCA9_ENST00000453985.2_Missense_Mutation_p.Y382C|ABCA9_ENST00000370732.2_Missense_Mutation_p.Y382C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	382					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTCACATCATAGTCCAAATG	0.308													T|||	2	0.000399361	0.0	0.0	5008	,	,		17180	0.002		0.0	False		,,,				2504	0.0					uc002jhu.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1144-1146)TAT>TGT		ATP-binding cassette, sub-family A, member 9							88.0	98.0	95.0					17																	67029998		2203	4298	6501	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67029998T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1145A>G	17.37:g.67029998T>C	ENSP00000342216:p.Tyr382Cys					ABCA9_uc010dez.2_Missense_Mutation_p.Y382C	p.Y382C	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			9	1288	-	Breast(10;1.47e-12)		382					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1145A>G	CCDS11681.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	T	12.42	1.933474	0.34096	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88277	-2.36;-2.36	3.8	1.4	0.22301	.	0.387363	0.18693	N	0.133796	D	0.91815	0.7410	M	0.80616	2.505	0.28951	N	0.890387	D;D	0.63046	0.992;0.987	D;D	0.64687	0.919;0.928	D	0.84319	0.0515	10	0.42905	T	0.14	.	5.0542	0.14524	0.1826:0.0:0.1902:0.6272	.	382;382	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	C	382;365;382;377	ENSP00000342216:Y382C;ENSP00000359767:Y382C	ENSP00000342216:Y382C	Y	-	2	0	ABCA9	64541593	0.039000	0.19947	0.890000	0.34922	0.700000	0.40528	0.814000	0.27239	0.133000	0.18654	-0.396000	0.06452	TAT		0.308	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		35	149	0	0	0	0.011902	0	35	149		
ABCA6	23460	broad.mit.edu	37	17	67079441	67079441	+	Missense_Mutation	SNP	C	C	G	rs143326198	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:67079441C>G	ENST00000284425.2	-	35	4561	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1463	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACACCTCTCTCTGTGTTTTTA	0.453													C|||	12	0.00239617	0.0	0.0	5008	,	,		15693	0.0119		0.0	False		,,,				2504	0.0					uc002jhw.1		NaN																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4387-4389)GAG>CAG		ATP-binding cassette, sub-family A, member 6							89.0	76.0	81.0					17																	67079441		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67079441C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4387G>C	17.37:g.67079441C>G	ENSP00000284425:p.Glu1463Gln						p.E1463Q	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			35	4562	-	Breast(10;5.65e-12)		1463			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4387G>C	CCDS11683.1	9	0.004120879120879121	0	0.0	0	0.0	9	0.015734265734265736	0	0.0	C	11.91	1.778259	0.31502	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.95377	-3.69	5.18	2.1	0.27182	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.694155	0.12835	N	0.435329	D	0.84056	0.5388	N	0.16743	0.435	0.09310	N	0.999999	B	0.28584	0.216	B	0.34346	0.18	T	0.78974	-0.1992	10	0.42905	T	0.14	.	9.848	0.41039	0.0:0.7788:0.0:0.2212	.	1463	Q8N139	ABCA6_HUMAN	Q	1463;323	ENSP00000284425:E1463Q	ENSP00000284425:E1463Q	E	-	1	0	ABCA6	64591036	0.008000	0.16893	0.000000	0.03702	0.050000	0.14768	0.556000	0.23438	0.337000	0.23665	0.555000	0.69702	GAG		0.453	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1		NM_080284		25	48	0	0	0	0.003271	0	25	48		
DSG2	1829	broad.mit.edu	37	18	29126318	29126318	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:29126318G>C	ENST00000261590.8	+	15	3178	c.2969G>C	c.(2968-2970)aGa>aCa	p.R990T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	990					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483																																						uc002kwu.3		NaN																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2968-2970)AGA>ACA		desmoglein 2 preproprotein							89.0	92.0	91.0					18																	29126318		1975	4154	6129	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126318G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2969G>C	18.37:g.29126318G>C	ENSP00000261590:p.Arg990Thr					uc002kwv.3_Intron	p.R990T	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3157	+			990			Desmoglein repeat 4.|Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2969G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379835	0.24944	.	.	ENSG00000046604	ENST00000261590	D	0.82711	-1.64	5.16	3.35	0.38373	.	0.307941	0.27677	N	0.018304	T	0.80894	0.4711	L	0.58510	1.815	0.80722	D	1	B	0.25390	0.125	B	0.26517	0.07	T	0.78753	-0.2081	10	0.62326	D	0.03	.	15.1058	0.72322	0.0:0.2687:0.7313:0.0	.	990	Q14126	DSG2_HUMAN	T	990	ENSP00000261590:R990T	ENSP00000261590:R990T	R	+	2	0	DSG2	27380316	1.000000	0.71417	0.817000	0.32601	0.226000	0.24999	1.602000	0.36783	0.847000	0.35167	0.655000	0.94253	AGA		0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943		10	27	0	0	0	0.006214	0	10	27		
PIK3C3	5289	broad.mit.edu	37	18	39607448	39607448	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:39607448G>A	ENST00000262039.4	+	14	1612	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R446K	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	509	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ACTCAGCAGAGAGATCCAAAG	0.383										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NaN																	0				lung(8)|ovary(1)|breast(1)	10						c.(1525-1527)AGA>AAA		catalytic phosphatidylinositol 3-kinase 3							126.0	106.0	113.0					18																	39607448		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39607448G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1526G>A	18.37:g.39607448G>A	ENSP00000262039:p.Arg509Lys	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.R446K|PIK3C3_uc002laq.2_5'UTR	p.R509K	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			14	1584	+			509					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1526G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481204	0.44147	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.66280	-0.2;-0.2	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.170649	0.56097	D	0.000033	T	0.57036	0.2026	L	0.46819	1.47	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.50206	-0.8855	9	.	.	.	.	18.1556	0.89689	0.0:0.0:1.0:0.0	.	446;509	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	K	509;446	ENSP00000262039:R509K;ENSP00000381845:R446K	.	R	+	2	0	PIK3C3	37861446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.732000	0.98816	2.724000	0.93272	0.586000	0.80456	AGA		0.383	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1		NM_002647		6	71	0	0	0	0.001984	0	6	71		
MALT1	10892	broad.mit.edu	37	18	56414989	56414989	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr18:56414989A>G	ENST00000348428.3	+	17	2648	c.2390A>G	c.(2389-2391)cAt>cGt	p.H797R	MALT1_ENST00000345724.3_Missense_Mutation_p.H786R|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	797					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCTTCATGTCATTTTAGTAGA	0.398			T	BIRC3	MALT																																	uc002lhm.1		NaN		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2389-2391)CAT>CGT		mucosa associated lymphoid tissue lymphoma							143.0	145.0	144.0					18																	56414989		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56414989A>G		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.2390A>G	18.37:g.56414989A>G	ENSP00000319279:p.His797Arg					MALT1_uc002lhn.1_Missense_Mutation_p.H786R	p.H797R	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			17	2648	+			797					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.2390A>G	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	1.184	-0.637166	0.03557	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.10192	2.9;2.91	5.77	1.83	0.25207	.	0.540055	0.18915	N	0.127628	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.18871	0.023;0.006	T	0.42548	-0.9445	10	0.22706	T	0.39	.	7.0302	0.24962	0.6197:0.1588:0.2215:0.0	.	786;797	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	R	797;786	ENSP00000319279:H797R;ENSP00000304161:H786R	ENSP00000304161:H786R	H	+	2	0	MALT1	54565969	0.001000	0.12720	0.015000	0.15790	0.110000	0.19582	1.138000	0.31491	0.470000	0.27294	0.528000	0.53228	CAT		0.398	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2				49	170	0	0	0	0.01441	0	49	170		
CATSPERD	257062	broad.mit.edu	37	19	5727329	5727329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:5727329C>A	ENST00000381624.3	+	3	238	c.177C>A	c.(175-177)tgC>tgA	p.C59*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	59					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											AACATCCTTGCGAGAAAAATA	0.328																																						uc002mda.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(175-177)TGC>TGA		transmembrane protein 146 precursor							102.0	96.0	98.0					19																	5727329		1818	4074	5892	SO:0001587	stop_gained	257062					integral to membrane		g.chr19:5727329C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.177C>A	19.37:g.5727329C>A	ENSP00000371037:p.Cys59*					TMEM146_uc010duj.1_5'UTR	p.C59*	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			3	238	+			59			Extracellular (Potential).		Q6ZRP1	Nonsense_Mutation	SNP	ENST00000381624.3	37	c.177C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618345	0.28801	.	.	ENSG00000174898	ENST00000381624	.	.	.	3.0	0.347	0.16022	.	.	.	.	.	.	.	.	.	.	.	0.44587	D	0.997553	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6917	0.12785	0.0:0.5253:0.0:0.4747	.	.	.	.	X	59	.	ENSP00000371037:C59X	C	+	3	2	TMEM146	5678329	0.106000	0.21978	0.308000	0.25141	0.018000	0.09664	-0.000000	0.12993	0.116000	0.18110	0.467000	0.42956	TGC		0.328	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		25	78	1	0	1.17739e-12	0.005443	1.49438e-12	25	78		
GIPR	2696	broad.mit.edu	37	19	46180989	46180989	+	Silent	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:46180989C>G	ENST00000590918.1	+	10	975	c.876C>G	c.(874-876)gtC>gtG	p.V292V	GIPR_ENST00000263281.3_Silent_p.V292V|GIPR_ENST00000304207.8_Silent_p.V256V|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000593127.1_Intron	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	292					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCAACGAAGTCAAGGCCATTT	0.562																																						uc002pcu.1		NaN																	0				skin(1)	1						c.(874-876)GTC>GTG		gastric inhibitory polypeptide receptor							167.0	154.0	158.0					19																	46180989		2203	4300	6503	SO:0001819	synonymous_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46180989C>G		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.876C>G	19.37:g.46180989C>G						GIPR_uc002pct.1_Silent_p.V292V|GIPR_uc010xxp.1_Silent_p.V256V|GIPR_uc010xxq.1_Intron	p.V292V	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	10	975	+		Ovarian(192;0.051)|all_neural(266;0.112)	292			Extracellular (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	c.876C>G	CCDS12671.1																																																																																				0.562	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1				60	249	0	0	0	0.01441	0	60	249		
PLA2G4C	8605	broad.mit.edu	37	19	48601511	48601511	+	Silent	SNP	C	C	T	rs370492295		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:48601511C>T	ENST00000599921.1	-	6	810	c.453G>A	c.(451-453)ccG>ccA	p.P151P	PLA2G4C_ENST00000354276.3_Silent_p.P151P|PLA2G4C_ENST00000599111.1_Silent_p.P161P|PLA2G4C_ENST00000413144.2_Silent_p.P151P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	151	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.		P -> L (in dbSNP:rs11564538). {ECO:0000269|Ref.3}.		arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATGAGACTCCGGCAGCTTTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19306	0.001		0.0	False		,,,				2504	0.0					uc002phx.2		NaN																	0				ovary(1)|skin(1)	2						c.(451-453)CCG>CCA		phospholipase A2, group IVC isoform 1 precursor		C	,,	0,4406		0,0,2203	78.0	70.0	73.0		483,453,453	-5.8	0.0	19		73	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2G4C	NM_001159322.1,NM_001159323.1,NM_003706.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	161/552,151/528,151/542	48601511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48601511C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.453G>A	19.37:g.48601511C>T						PLA2G4C_uc002phw.2_Silent_p.P86P|PLA2G4C_uc010elr.2_Silent_p.P151P|PLA2G4C_uc010xzd.1_Silent_p.P161P|PLA2G4C_uc002phy.3_Silent_p.P151P	p.P151P	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	6	851	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	151			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	c.453G>A	CCDS12710.1																																																																																				0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1				4	47	0	0	0	0.009096	0	4	47		
HSD17B14	51171	broad.mit.edu	37	19	49316806	49316806	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:49316806G>A	ENST00000263278.4	-	8	812	c.546C>T	c.(544-546)atC>atT	p.I182I	BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank|HSD17B14_ENST00000599157.1_Silent_p.I158I|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000601496.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	182					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		TTCCTGGGGAGATACTAGAGG	0.607																																						uc002pkv.1		NaN																	0					0						c.(544-546)ATC>ATT		dehydrogenase/reductase (SDR family) member 10							49.0	49.0	49.0					19																	49316806		2203	4300	6503	SO:0001819	synonymous_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49316806G>A	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.546C>T	19.37:g.49316806G>A						BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron	p.I182I	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	8	812	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	182					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.546C>T	CCDS12736.1																																																																																				0.607	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1		NM_016246		6	28	0	0	0	0.001984	0	6	28		
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A	rs534373157		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|TSEN34_ENST00000396383.1_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L|TSEN34_ENST00000429671.2_5'Flank|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000474910.1_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NaN																	0					0						c.(175-177)GGG>TGG		membrane bound O-acyltransferase domain							56.0	64.0	61.0					19																	54692102		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692102C>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.175G>T	19.37:g.54692102C>A	ENSP00000245615:p.Gly59Trp					MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Missense_Mutation_p.G41W|MBOAT7_uc002qdr.2_Missense_Mutation_p.G59W|MBOAT7_uc002qds.2_Missense_Mutation_p.R28L|MBOAT7_uc010yen.1_Missense_Mutation_p.R28L|MBOAT7_uc002qdt.3_Missense_Mutation_p.G59W|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank	p.G59W	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			4	441	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		59			Helical; (Potential).		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.175G>T	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065903|4.065903	0.76187|0.76187	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.47869|0.18502	2.14;1.4;0.83|2.21;2.21	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.229124|.	0.34386|.	N|.	0.004008|.	T|T	0.13157|0.13157	0.0319|0.0319	.|.	.|.	.|.	0.37372|0.37372	D|D	0.91166|0.91166	D;D|B	0.89917|0.14438	1.0;1.0|0.01	D;D|B	0.91635|0.17098	0.989;0.999|0.017	T|T	0.11991|0.11991	-1.0565|-1.0565	9|8	0.66056|0.19147	D|T	0.02|0.46	-17.8323|-17.8323	15.4077|15.4077	0.74893|0.74893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;59|28	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	W|L	59;11;59;59;59|28	ENSP00000245615:G59W;ENSP00000375634:G59W;ENSP00000388250:G59W|ENSP00000410503:R28L;ENSP00000344377:R28L	ENSP00000245615:G59W|ENSP00000344377:R28L	G|R	-|-	1|2	0|0	MBOAT7|MBOAT7	59383914|59383914	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.817000|0.817000	0.46193|0.46193	6.714000|6.714000	0.74692|0.74692	2.008000|2.008000	0.58898|0.58898	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1		NM_024298		25	100	1	0	3.67414e-24	0.012213	4.94884e-24	25	100		
MSGN1	343930	broad.mit.edu	37	2	17998336	17998336	+	Missense_Mutation	SNP	G	G	A	rs373718422		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:17998336G>A	ENST00000281047.3	+	1	574	c.551G>A	c.(550-552)cGc>cAc	p.R184H		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTTAACCGCGGCAGAGAG	0.577																																					Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1		NaN																	0				ovary(1)	1						c.(550-552)CGC>CAC		mesogenin 1		G	HIS/ARG	1,4041		0,1,2020	34.0	36.0	35.0		551	5.7	0.5	2		35	0,8360		0,0,4180	no	missense	MSGN1	NM_001105569.1	29	0,1,6200	AA,AG,GG		0.0,0.0247,0.0081	possibly-damaging	184/194	17998336	1,12401	2021	4180	6201	SO:0001583	missense	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998336G>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.551G>A	2.37:g.17998336G>A	ENSP00000281047:p.Arg184His						p.R184H	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	551	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		184						Missense_Mutation	SNP	ENST00000281047.3	37	c.551G>A	CCDS42657.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652511	0.29336	2.47E-4	0.0	ENSG00000151379	ENST00000281047	D	0.97642	-4.47	5.67	5.67	0.87782	Helix-loop-helix DNA-binding (2);	0.422148	0.20277	N	0.095534	D	0.91908	0.7438	N	0.14661	0.345	0.33552	D	0.596289	P	0.43024	0.798	B	0.35182	0.197	D	0.94184	0.7434	10	0.45353	T	0.12	-7.8326	14.326	0.66521	0.071:0.0:0.9289:0.0	.	184	A6NI15	MSGN1_HUMAN	H	184	ENSP00000281047:R184H	ENSP00000281047:R184H	R	+	2	0	MSGN1	17861817	0.002000	0.14202	0.499000	0.27577	0.806000	0.45545	1.019000	0.30014	2.837000	0.97791	0.655000	0.94253	CGC		0.577	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1		XM_292850		13	49	0	0	0	0.006122	0	13	49		
PLEKHH2	130271	broad.mit.edu	37	2	43939394	43939394	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:43939394A>T	ENST00000282406.4	+	15	2442	c.2332A>T	c.(2332-2334)Act>Tct	p.T778S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	778	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATACTATCTGACTGCAGATTC	0.408																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2332-2334)ACT>TCT		pleckstrin homology domain containing, family H							153.0	143.0	147.0					2																	43939394		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939394A>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2332A>T	2.37:g.43939394A>T	ENSP00000282406:p.Thr778Ser					PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T777S	p.T778S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			15	2415	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	778			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2332A>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637671	0.47049	.	.	ENSG00000152527	ENST00000282406	T	0.11169	2.8	5.16	2.65	0.31530	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.230317	0.44285	D	0.000470	T	0.05044	0.0135	N	0.04805	-0.155	0.43211	D	0.995072	B;B	0.14805	0.011;0.001	B;B	0.19148	0.024;0.004	T	0.30149	-0.9988	10	0.66056	D	0.02	-8.0264	6.4566	0.21934	0.7842:0.0:0.0764:0.1394	.	778;215	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	S	778	ENSP00000282406:T778S	ENSP00000282406:T778S	T	+	1	0	PLEKHH2	43792898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.823000	0.69272	0.814000	0.34374	0.377000	0.23210	ACT		0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		27	132	0	0	0	0.003755	0	27	132		
USP34	9736	broad.mit.edu	37	2	61566811	61566811	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:61566811C>T	ENST00000398571.2	-	17	2582	c.2506G>A	c.(2506-2508)Gta>Ata	p.V836I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	836					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTATGAACTACAGGTCCTGAA	0.328																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2506-2508)GTA>ATA		ubiquitin specific protease 34							58.0	51.0	53.0					2																	61566811		1800	4068	5868	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61566811C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2506G>A	2.37:g.61566811C>T	ENSP00000381577:p.Val836Ile						p.V836I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		17	2528	-			836					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2506G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909546	0.33721	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03441	3.93	5.59	4.71	0.59529	.	0.113605	0.64402	D	0.000015	T	0.02970	0.0088	N	0.19112	0.55	0.23501	N	0.997549	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.35671	T	0.21	.	9.6185	0.39708	0.1399:0.7888:0.0:0.0713	.	836	Q70CQ2	UBP34_HUMAN	I	684;684;836	ENSP00000381577:V836I	ENSP00000263989:V684I	V	-	1	0	USP34	61420315	1.000000	0.71417	0.989000	0.46669	0.360000	0.29518	3.653000	0.54446	1.365000	0.46057	0.460000	0.39030	GTA		0.328	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				6	18	0	0	0	0.001168	0	6	18		
DYSF	8291	broad.mit.edu	37	2	71892312	71892312	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:71892312G>A	ENST00000258104.3	+	46	5355	c.5078G>A	c.(5077-5079)cGg>cAg	p.R1693Q	DYSF_ENST00000410020.3_Missense_Mutation_p.R1732Q|DYSF_ENST00000429174.2_Missense_Mutation_p.R1714Q|DYSF_ENST00000410041.1_Missense_Mutation_p.R1711Q|DYSF_ENST00000409651.1_Missense_Mutation_p.R1725Q|DYSF_ENST00000394120.2_Missense_Mutation_p.R1694Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1724Q|DYSF_ENST00000409582.3_Missense_Mutation_p.R1731Q|DYSF_ENST00000409744.1_Missense_Mutation_p.R1701Q|DYSF_ENST00000409762.1_Missense_Mutation_p.R1710Q|DYSF_ENST00000409366.1_Missense_Mutation_p.R1715Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1693			R -> Q (in MMD1). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.|R -> W (in MMD1). {ECO:0000269|PubMed:16100712}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACCAGTGGCGGGACCAGCTC	0.562																																						uc002sie.2		NaN																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7	GRCh37	CM053206	DYSF	M		c.(5077-5079)CGG>CAG		dysferlin isoform 8							102.0	100.0	101.0					2																	71892312		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71892312G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5078G>A	2.37:g.71892312G>A	ENSP00000258104:p.Arg1693Gln					DYSF_uc010feg.2_Missense_Mutation_p.R1724Q|DYSF_uc010feh.2_Missense_Mutation_p.R1700Q|DYSF_uc002sig.3_Missense_Mutation_p.R1679Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R1714Q|DYSF_uc010fef.2_Missense_Mutation_p.R1731Q|DYSF_uc010fei.2_Missense_Mutation_p.R1710Q|DYSF_uc010fek.2_Missense_Mutation_p.R1711Q|DYSF_uc010fej.2_Missense_Mutation_p.R1701Q|DYSF_uc010fel.2_Missense_Mutation_p.R1680Q|DYSF_uc010feo.2_Missense_Mutation_p.R1725Q|DYSF_uc010fem.2_Missense_Mutation_p.R1715Q|DYSF_uc010fen.2_Missense_Mutation_p.R1732Q|DYSF_uc002sif.2_Missense_Mutation_p.R1694Q|DYSF_uc010yqy.1_Missense_Mutation_p.R574Q|DYSF_uc010yqz.1_Missense_Mutation_p.R454Q	p.R1693Q	NM_003494	NP_003485	O75923	DYSF_HUMAN			46	5454	+			1693		R -> Q (in MMD1).|R -> W (in MMD1).	Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5078G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.533402	0.96460	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.28;-2.27;-2.3;-2.25;-2.25;-2.23;-2.22;-2.24;-2.26	5.41	5.41	0.78517	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	M	0.93550	3.43	0.53688	D	0.999971	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.973;1.0;1.0;1.0;1.0;0.969;0.969;0.969;0.995;1.0;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;P;P;P;P;D;D;D;D;D;D	0.79784	0.581;0.976;0.976;0.976;0.976;0.63;0.63;0.63;0.851;0.976;0.991;0.993;0.976;0.976;0.946	D	0.96201	0.9145	10	0.87932	D	0	-28.4941	16.6972	0.85339	0.0:0.0:1.0:0.0	.	457;1725;1732;1715;1680;1711;1701;1710;1700;1724;1731;1714;1679;1694;1693	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Q	1724;1710;1731;1714;1693;1725;1694;1701;1715;1732;1711	ENSP00000407046:R1724Q;ENSP00000387137:R1710Q;ENSP00000386547:R1731Q;ENSP00000398305:R1714Q;ENSP00000258104:R1693Q;ENSP00000386683:R1725Q;ENSP00000377678:R1694Q;ENSP00000386285:R1701Q;ENSP00000386512:R1715Q;ENSP00000386881:R1732Q;ENSP00000386617:R1711Q	ENSP00000258104:R1693Q	R	+	2	0	DYSF	71745820	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.667000	0.83888	2.532000	0.85374	0.655000	0.94253	CGG		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		42	167	0	0	0	0.01441	0	42	167		
AFF3	3899	broad.mit.edu	37	2	100209852	100209852	+	Silent	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:100209852T>C	ENST00000409236.2	-	13	2383	c.2271A>G	c.(2269-2271)ctA>ctG	p.L757L	AFF3_ENST00000409579.1_Silent_p.L782L|AFF3_ENST00000356421.2_Silent_p.L782L|AFF3_ENST00000317233.4_Silent_p.L757L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	757					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGTCCTTTAGAGGGGAGA	0.577																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2269-2271)CTA>CTG		AF4/FMR2 family, member 3 isoform 1							69.0	65.0	66.0					2																	100209852		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209852T>C	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2271A>G	2.37:g.100209852T>C						AFF3_uc002taf.2_Silent_p.L782L|AFF3_uc010fiq.1_Silent_p.L757L|AFF3_uc010yvr.1_Silent_p.L910L|AFF3_uc002tah.1_Silent_p.L782L	p.L757L	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2507	-			757					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2271A>G	CCDS42723.1																																																																																				0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		14	46	0	0	0	0.004007	0	14	46		
RGPD3	653489	broad.mit.edu	37	2	107040980	107040980	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:107040980G>T	ENST00000409886.3	-	20	3530	c.3443C>A	c.(3442-3444)gCa>gAa	p.A1148E	RGPD3_ENST00000304514.7_Missense_Mutation_p.A1148E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1148	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAATTTTGCTGCCAATCGCTC	0.453																																						uc010ywi.1		NaN																	0				ovary(1)	1						c.(3442-3444)GCA>GAA		RANBP2-like and GRIP domain containing 3							14.0	11.0	12.0					2																	107040980		683	1543	2226	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040980G>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3443C>A	2.37:g.107040980G>T	ENSP00000386588:p.Ala1148Glu						p.A1148E	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	3500	-			1148			RanBD1 1.		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3443C>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822997	0.32237	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.55588	0.51;0.51	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75576	0.3868	M	0.92691	3.335	0.37739	D	0.925554	D	0.89917	1.0	D	0.97110	1.0	T	0.81756	-0.0787	9	0.72032	D	0.01	-29.1821	10.4115	0.44296	0.0:0.0:1.0:0.0	.	1148	A6NKT7	RGPD3_HUMAN	E	1148;906;1148	ENSP00000386588:A1148E;ENSP00000303659:A1148E	ENSP00000303659:A1148E	A	-	2	0	RGPD3	106407412	1.000000	0.71417	0.976000	0.42696	0.160000	0.22226	9.560000	0.98139	1.314000	0.45095	0.186000	0.17326	GCA		0.453	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931		29	170	1	0	1.06801e-11	0.009535	1.34264e-11	29	170		
RANBP2	5903	broad.mit.edu	37	2	109379691	109379691	+	Splice_Site	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:109379691A>G	ENST00000283195.6	+	20	2823		c.e20-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTGTCTTTTAGGGCCCAGTC	0.398																																						uc002tem.3		NaN																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.e20-2		RAN binding protein 2							52.0	51.0	51.0					2																	109379691		2203	4299	6502	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109379691A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2698-1A>G	2.37:g.109379691A>G							p.G900_splice	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	2824	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.2698_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734604	0.30774	.	.	ENSG00000153201	ENST00000283195	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1378	0.72583	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108746123	1.000000	0.71417	0.938000	0.37757	0.391000	0.30476	8.910000	0.92685	2.031000	0.59945	0.460000	0.39030	.		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1		NM_006267	Intron	16	39	0	0	0	0.006122	0	16	39		
NXPH2	11249	broad.mit.edu	37	2	139429145	139429145	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:139429145C>A	ENST00000272641.3	-	2	248	c.142G>T	c.(142-144)Gtg>Ttg	p.V48L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	48	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTGAGTGCACCACGTTGCCG	0.542																																						uc002tvi.2		NaN																	0				ovary(3)|skin(1)	4						c.(142-144)GTG>TTG		neurexophilin 2 precursor							104.0	103.0	104.0					2																	139429145		1985	4171	6156	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429145C>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.142G>T	2.37:g.139429145C>A	ENSP00000272641:p.Val48Leu						p.V48L	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	142	-			48			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.142G>T	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834314	0.50951	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	5.29	0.74685	.	0.132683	0.49916	D	0.000139	T	0.40297	0.1111	N	0.24115	0.695	0.30853	N	0.734333	B	0.14012	0.009	B	0.09377	0.004	T	0.29792	-1.0000	8	.	.	.	-3.582	17.2383	0.87006	0.1265:0.8735:0.0:0.0	.	48	O95156	NXPH2_HUMAN	L	48	.	.	V	-	1	0	NXPH2	139145615	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	3.437000	0.52863	1.600000	0.50102	0.655000	0.94253	GTG		0.542	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1				33	132	1	0	5.43694e-19	0.005524	7.1057e-19	33	132		
LRP2	4036	broad.mit.edu	37	2	170097513	170097513	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:170097513C>G	ENST00000263816.3	-	25	4315	c.4030G>C	c.(4030-4032)Gag>Cag	p.E1344Q	LRP2_ENST00000443831.1_Missense_Mutation_p.E1207Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1344	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTGGGGACTCATCTGTCCCA	0.483																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4030-4032)GAG>CAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						118.0	106.0	110.0					2																	170097513		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.chr2:170097513C>G		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.4030G>C	2.37:g.170097513C>G	ENSP00000263816:p.Glu1344Gln					LRP2_uc010zdf.1_Missense_Mutation_p.E1207Q	p.E1344Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	25	4243	-			1344			LDL-receptor class A 15.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4030G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917004	0.92249	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;D	0.98862	-1.11;-5.19	6.02	6.02	0.97574	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.99225	4.475	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.97595	1.0119	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	1207;1344	E9PC35;P98164	.;LRP2_HUMAN	Q	1344;1207	ENSP00000263816:E1344Q;ENSP00000409813:E1207Q	ENSP00000263816:E1344Q	E	-	1	0	LRP2	169805759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.857000	0.98124	0.650000	0.86243	GAG		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		28	78	0	0	0	0.008361	0	28	78		
METAP1D	254042	broad.mit.edu	37	2	172928446	172928446	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:172928446A>G	ENST00000315796.4	+	3	593	c.206A>G	c.(205-207)aAg>aGg	p.K69R	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	69					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						AAGCACATAAAGAAGCCAGAC	0.458																																						uc002uhk.2		NaN																	0					0						c.(205-207)AAG>AGG		methionine aminopeptidase 1D precursor							106.0	88.0	94.0					2																	172928446		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928446A>G	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.206A>G	2.37:g.172928446A>G	ENSP00000315152:p.Lys69Arg					MAP1D_uc010zdw.1_5'UTR	p.K69R	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	279	+			69					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.206A>G	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798483	0.31777	.	.	ENSG00000172878	ENST00000315796	T	0.45276	0.9	5.67	4.53	0.55603	Peptidase M24, structural domain (1);	0.199648	0.52532	D	0.000072	T	0.29423	0.0733	L	0.36672	1.1	0.43508	D	0.995765	B	0.14438	0.01	B	0.10450	0.005	T	0.08617	-1.0713	10	0.25751	T	0.34	-1.8075	6.8827	0.24183	0.7962:0.0:0.0704:0.1334	.	69	Q6UB28	AMP1D_HUMAN	R	69	ENSP00000315152:K69R	ENSP00000315152:K69R	K	+	2	0	METAP1D	172636692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.029000	0.57253	1.097000	0.41459	0.533000	0.62120	AAG		0.458	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2		NM_199227		4	19	0	0	0	0.001168	0	4	19		
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:179629296C>T	ENST00000591111.1	-	42	10170	c.9946G>A	c.(9946-9948)Gac>Aac	p.D3316N	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3270N|TTN_ENST00000342992.6_Missense_Mutation_p.D3316N|TTN_ENST00000360870.5_Missense_Mutation_p.D3316N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3270N|TTN_ENST00000589042.1_Missense_Mutation_p.D3316N|TTN_ENST00000460472.2_Missense_Mutation_p.D3270N			Q8WZ42	TITIN_HUMAN	titin	13643	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACCATAGTCATTCTTGGCT	0.453																																						uc010zfg.1		NaN																	0				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.(9946-9948)GAC>AAC		titin isoform N2-A							124.0	120.0	121.0					2																	179629296		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629296C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9946G>A	2.37:g.179629296C>T	ENSP00000465570:p.Asp3316Asn					TTN_uc010zfh.1_Missense_Mutation_p.D3270N|TTN_uc010zfi.1_Missense_Mutation_p.D3270N|TTN_uc010zfj.1_Missense_Mutation_p.D3270N|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.D3316N	p.D3316N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		42	10170	-			3316					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.9946G>A		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442109	0.63067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78672	0.4320	L	0.45698	1.435	0.34746	D	0.731279	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.999;1.0	D;D;D;D;D	0.74674	0.947;0.947;0.947;0.971;0.984	D	0.83450	0.0048	9	0.87932	D	0	.	19.821	0.96592	0.0:1.0:0.0:0.0	.	3270;3270;3270;3316;3316	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	3316;3270;3270;3270;3270;3316	ENSP00000343764:D3316N;ENSP00000434586:D3270N;ENSP00000340554:D3270N;ENSP00000352154:D3270N;ENSP00000354117:D3316N	ENSP00000340554:D3270N	D	-	1	0	TTN	179337541	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.056000	0.71111	2.683000	0.91414	0.655000	0.94253	GAC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		12	136	0	0	0	0.004007	0	12	136		
XRCC5	7520	broad.mit.edu	37	2	216992289	216992289	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr2:216992289A>G	ENST00000392133.3	+	10	1290	c.829A>G	c.(829-831)Aca>Gca	p.T277A	XRCC5_ENST00000392132.2_Missense_Mutation_p.T277A			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	277	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.T277P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAAGACTTGGACAGTTGTGGA	0.308								Non-homologous end-joining																														uc002vfy.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	lung(1)|kidney(1)	2						c.(829-831)ACA>GCA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							91.0	97.0	95.0					2																	216992289		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216992289A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.829A>G	2.37:g.216992289A>G	ENSP00000375978:p.Thr277Ala					XRCC5_uc002vfz.2_Missense_Mutation_p.T163A	p.T277A	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	8	969	+		Renal(323;0.0328)	277			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.829A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909870	0.33721	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.30182	1.54;1.54	6.17	1.11	0.20524	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (1);	0.656463	0.16245	N	0.222959	T	0.17577	0.0422	L	0.38531	1.155	0.38162	D	0.939057	B	0.02656	0.0	B	0.04013	0.001	T	0.17653	-1.0362	10	0.08381	T	0.77	.	5.6055	0.17377	0.5247:0.0:0.3464:0.129	.	277	P13010	XRCC5_HUMAN	A	277	ENSP00000375978:T277A;ENSP00000375977:T277A	ENSP00000375977:T277A	T	+	1	0	XRCC5	216700534	0.746000	0.28272	0.986000	0.45419	0.896000	0.52359	1.603000	0.36794	-0.037000	0.13646	-0.250000	0.11733	ACA		0.308	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3		NM_021141		12	47	0	0	0	0.001855	0	12	47		
SIRPB2	284759	broad.mit.edu	37	20	1460373	1460373	+	Silent	SNP	C	C	T	rs370147802		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:1460373C>T	ENST00000359801.3	-	2	459	c.423G>A	c.(421-423)tcG>tcA	p.S141S	SIRPB2_ENST00000537284.1_Silent_p.S3S|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCCTTCATCCGATTTCATTT	0.478																																						uc002wfg.2		NaN																	0					0						c.(421-423)TCG>TCA		signal-regulatory protein beta 2 isoform 1		C	,	3,3133		0,3,1565	184.0	159.0	166.0		423,	-0.4	0.0	20		166	0,7164		0,0,3582	no	coding-synonymous,intron	SIRPB2	NM_001122962.1,NM_001134836.1	,	0,3,5147	TT,TC,CC		0.0,0.0957,0.0291	,	141/343,	1460373	3,10297	1568	3582	5150	SO:0001819	synonymous_variant	284759					integral to membrane		g.chr20:1460373C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.423G>A	20.37:g.1460373C>T						SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Silent_p.S3S	p.S141S	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			2	651	-			141			Ig-like V-type 1.|Extracellular (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	c.423G>A	CCDS42849.1																																																																																				0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1		NM_178459		79	192	0	0	0	0.01441	0	79	192		
ITCH	83737	broad.mit.edu	37	20	33028050	33028050	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:33028050C>A	ENST00000262650.6	+	10	1029	c.893C>A	c.(892-894)tCt>tAt	p.S298Y	ITCH_ENST00000535650.1_Missense_Mutation_p.S147Y|ITCH_ENST00000374864.4_Missense_Mutation_p.S257Y|ITCH-AS1_ENST00000454205.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	298					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACAAATACATCTGAAGGAGCA	0.448																																						uc010geu.1		NaN																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(892-894)TCT>TAT		itchy homolog E3 ubiquitin protein ligase							82.0	80.0	81.0					20																	33028050		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33028050C>A	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.893C>A	20.37:g.33028050C>A	ENSP00000262650:p.Ser298Tyr					ITCH_uc002xak.2_Missense_Mutation_p.S257Y|ITCH_uc010zuj.1_Missense_Mutation_p.S147Y	p.S298Y	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			10	1085	+			298					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.893C>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029939	0.54790	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.33654	1.4;1.4;1.79	5.19	5.19	0.71726	.	0.355052	0.29015	N	0.013415	T	0.34483	0.0899	N	0.14661	0.345	0.37655	D	0.92255	P;P;P	0.50710	0.679;0.938;0.833	B;P;B	0.50617	0.092;0.646;0.232	T	0.40664	-0.9551	10	0.72032	D	0.01	.	16.67	0.85263	0.0:1.0:0.0:0.0	.	209;298;257	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Y	257;147;298	ENSP00000363998:S257Y;ENSP00000445608:S147Y;ENSP00000262650:S298Y	ENSP00000262650:S298Y	S	+	2	0	ITCH	32491711	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.787000	0.62432	2.704000	0.92352	0.563000	0.77884	TCT		0.448	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2				17	59	1	0	2.35188e-11	0.006122	2.90139e-11	17	59		
MROH8	140699	broad.mit.edu	37	20	35743603	35743603	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr20:35743603C>T	ENST00000400441.3	-	19	2507	c.2508G>A	c.(2506-2508)atG>atA	p.M836I	MROH8_ENST00000441008.2_Missense_Mutation_p.M822I|MROH8_ENST00000217333.8_Missense_Mutation_p.M665I			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	ACAGGGTCCTCATCATGGCAG	0.458																																						uc010zvu.1		NaN																	0					0						c.(2536-2538)ATG>ATA		hypothetical protein LOC140699 isoform 1							122.0	119.0	120.0					20																	35743603		2008	4171	6179	SO:0001583	missense	140699							g.chr20:35743603C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2508G>A	20.37:g.35743603C>T	ENSP00000383291:p.Met836Ile					C20orf132_uc002xgk.2_Missense_Mutation_p.M468I	p.M846I	NM_152503	NP_689716	Q9H579	CT132_HUMAN			21	2629	-		Myeloproliferative disorder(115;0.00878)	Error:Variant_position_missing_in_Q9H579_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2538G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.32|13.32	2.201067|2.201067	0.38905|0.38905	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.63417	.|-0.04;1.63;0.05	5.27|5.27	4.26|4.26	0.50523|0.50523	.|.	.|0.297257	.|0.34555	.|N	.|0.003862	T|T	0.43875|0.43875	0.1267|0.1267	N|N	0.19112|0.19112	0.55|0.55	0.23906|0.23906	N|N	0.996501|0.996501	.|B;B	.|0.19445	.|0.036;0.007	.|B;B	.|0.18871	.|0.023;0.005	T|T	0.16600|0.16600	-1.0397|-1.0397	5|10	.|0.22706	.|T	.|0.39	-19.5055|-19.5055	11.3449|11.3449	0.49554|0.49554	0.0:0.8167:0.1833:0.0|0.0:0.8167:0.1833:0.0	.|.	.|836;670	.|E7ETR9;Q9H579-2	.|.;.	K|I	464|822;836;665	.|ENSP00000392144:M822I;ENSP00000383291:M836I;ENSP00000217333:M665I	.|ENSP00000217333:M665I	E|M	-|-	1|3	0|0	C20orf132|C20orf132	35177017|35177017	0.985000|0.985000	0.35326|0.35326	0.997000|0.997000	0.53966|0.53966	0.924000|0.924000	0.55760|0.55760	2.028000|2.028000	0.41088|0.41088	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.458	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152503		7	60	0	0	0	0.001984	0	7	60		
SMTN	6525	broad.mit.edu	37	22	31486843	31486843	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:31486843C>T	ENST00000347557.2	+	9	1133	c.915C>T	c.(913-915)ccC>ccT	p.P305P	SMTN_ENST00000358743.1_Silent_p.P305P|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Silent_p.P305P	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	305					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGCTCAGCCCCCGCCAACCAG	0.622																																						uc003ajl.1		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(913-915)CCC>CCT		smoothelin isoform c							120.0	119.0	119.0					22																	31486843		2203	4300	6503	SO:0001819	synonymous_variant	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31486843C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.915C>T	22.37:g.31486843C>T						SMTN_uc003ajk.1_Silent_p.P305P|SMTN_uc003ajm.1_Silent_p.P305P|SMTN_uc011ale.1_Silent_p.P359P|SMTN_uc011alf.1_Silent_p.P361P|SMTN_uc003ajn.1_Silent_p.P297P|SMTN_uc011alg.1_5'Flank|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	p.P305P	NM_006932	NP_008863	P53814	SMTN_HUMAN			9	1133	+			305					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Silent	SNP	ENST00000347557.2	37	c.915C>T	CCDS13886.1																																																																																				0.622	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1		NM_134270		71	177	0	0	0	0.01441	0	71	177		
DEPDC5	9681	broad.mit.edu	37	22	32239701	32239701	+	Missense_Mutation	SNP	G	G	A	rs374944205		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:32239701G>A	ENST00000382112.3	+	28	2747	c.2677G>A	c.(2677-2679)Gtc>Atc	p.V893I	DEPDC5_ENST00000266091.3_Missense_Mutation_p.V902I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V902I|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V902I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V824I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V893I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V824I	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	902					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCAGAGTTCGTCTCCTGCTG	0.498																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2677-2679)GTC>ATC		DEP domain containing 5 isoform 1		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,3809		0,1,1904	109.0	106.0	107.0		2677,2704,2470,2677	5.8	1.0	22		107	0,8232		0,0,4116	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	29,29,29,29	0,1,6020	AA,AG,GG		0.0,0.0262,0.0083	benign,benign,benign,benign	893/1595,902/1604,824/1504,893/1573	32239701	1,12041	1905	4116	6021	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32239701G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2677G>A	22.37:g.32239701G>A	ENSP00000371546:p.Val893Ile					DEPDC5_uc011als.1_Missense_Mutation_p.V824I|DEPDC5_uc011alu.1_Missense_Mutation_p.V902I|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.V893I|DEPDC5_uc003alu.2_Missense_Mutation_p.V342I|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.V223I|DEPDC5_uc003alw.2_Missense_Mutation_p.V191I|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank	p.V893I	NM_014662	NP_055477	O75140	DEPD5_HUMAN			29	2819	+			893					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2677G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988678|2.988678	0.53934|0.53934	2.62E-4|2.62E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.20881	.|2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;B;P	.|0.46512	.|0.566;0.858;0.879;0.789;0.336;0.685	.|B;B;B;B;B;B	.|0.39971	.|0.315;0.173;0.225;0.182;0.022;0.089	T|T	0.01516|0.01516	-1.1335|-1.1335	5|10	.|0.33141	.|T	.|0.24	.|.	19.0579|19.0579	0.93074|0.93074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;902;824;902;893;893	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	H|I	299|824;902;893;824;902;824;893;902;893	.|ENSP00000440210:V824I;ENSP00000266091:V902I;ENSP00000383108:V893I;ENSP00000383105:V902I;ENSP00000371539:V824I;ENSP00000371546:V893I;ENSP00000371545:V902I;ENSP00000383107:V893I	.|ENSP00000266091:V902I	R|V	+|+	2|1	0|0	DEPDC5|DEPDC5	30569701|30569701	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	4.022000|4.022000	0.57203|0.57203	2.756000|2.756000	0.94617|0.94617	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		47	103	0	0	0	0.01441	0	47	103		
ENTHD1	150350	broad.mit.edu	37	22	40161511	40161511	+	Silent	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr22:40161511G>A	ENST00000325157.6	-	6	1186	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	312										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGTTTCCAAGAGGTTTTCTG	0.413																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(934-936)CTC>CTT		ENTH domain containing 1							99.0	104.0	103.0					22																	40161511		2203	4300	6503	SO:0001819	synonymous_variant	150350							g.chr22:40161511G>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.936C>T	22.37:g.40161511G>A							p.L312L	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			6	1187	-	Melanoma(58;0.0749)		312					B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	c.936C>T	CCDS13998.1																																																																																				0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		41	128	0	0	0	0.01441	0	41	128		
LHFPL4	375323	broad.mit.edu	37	3	9547837	9547837	+	Missense_Mutation	SNP	C	C	T	rs556836255		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:9547837C>T	ENST00000287585.6	-	3	742	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	166						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CGGATGGTCTCGGCATCCCAG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17986	0.0		0.0	False		,,,				2504	0.0					uc003bry.2		NaN																	0				ovary(2)|skin(1)	3						c.(457-459)GAG>AAG		lipoma HMGIC fusion partner-like 4							119.0	101.0	107.0					3																	9547837		2203	4300	6503	SO:0001583	missense	375323					integral to membrane		g.chr3:9547837C>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.457G>A	3.37:g.9547837C>T	ENSP00000287585:p.Glu153Lys						p.E153K	NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN			3	743	-	Medulloblastoma(99;0.227)		153					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	c.457G>A	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151204	0.78001	.	.	ENSG00000156959	ENST00000287585	T	0.72394	-0.65	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000002	T	0.67040	0.2851	L	0.56769	1.78	0.80722	D	1	B	0.18013	0.025	B	0.13407	0.009	T	0.63088	-0.6715	10	0.13853	T	0.58	-28.4941	18.496	0.90865	0.0:1.0:0.0:0.0	.	153	Q7Z7J7	LHPL4_HUMAN	K	153	ENSP00000287585:E153K	ENSP00000287585:E153K	E	-	1	0	LHFPL4	9522837	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.783000	0.85696	2.488000	0.83962	0.591000	0.81541	GAG		0.612	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1		NM_198560		71	101	0	0	0	0.01441	0	71	101		
SATB1	6304	broad.mit.edu	37	3	18427954	18427954	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:18427954C>T	ENST00000338745.6	-	8	3090	c.1356G>A	c.(1354-1356)ttG>ttA	p.L452L	SATB1_ENST00000454909.2_Silent_p.L452L|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.L452L	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	452					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L452F(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGGCAGCATTCAAGCTCCTTT	0.547																																						uc003cbh.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1354-1356)TTG>TTA		special AT-rich sequence binding protein 1							185.0	189.0	187.0					3																	18427954		2203	4300	6503	SO:0001819	synonymous_variant	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18427954C>T		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1356G>A	3.37:g.18427954C>T						SATB1_uc003cbi.2_Silent_p.L452L|SATB1_uc003cbj.2_Silent_p.L452L	p.L452L	NM_002971	NP_002962	Q01826	SATB1_HUMAN			8	3091	-			452					B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	c.1356G>A	CCDS2631.1																																																																																				0.547	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4		NM_001131010		8	175	0	0	0	0.013537	0	8	175		
EFHB	151651	broad.mit.edu	37	3	19947209	19947209	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:19947209T>C	ENST00000295824.9	-	6	1482	c.1321A>G	c.(1321-1323)Agt>Ggt	p.S441G	EFHB_ENST00000344838.4_Missense_Mutation_p.S311G|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	441							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTATGGAAACTTGATGGGTTA	0.398																																						uc003cbl.3		NaN																	0					0						c.(1321-1323)AGT>GGT		EF hand domain family, member B							121.0	118.0	119.0					3																	19947209		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19947209T>C	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1321A>G	3.37:g.19947209T>C	ENSP00000295824:p.Ser441Gly					EFHB_uc003cbm.2_Missense_Mutation_p.S311G	p.S441G	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			6	1517	-			441					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.1321A>G	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543428	0.45280	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.32515	1.78;1.83;2.08;1.45	5.07	3.82	0.43975	.	0.216466	0.41938	D	0.000798	T	0.32675	0.0837	M	0.69823	2.125	0.25732	N	0.985251	P;B	0.36837	0.571;0.304	B;B	0.39119	0.291;0.106	T	0.21895	-1.0232	9	.	.	.	-14.0364	8.8764	0.35348	0.1668:0.0:0.0:0.8332	.	311;441	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	G	441;311;441;178	ENSP00000295824:S441G;ENSP00000342263:S311G;ENSP00000373908:S441G;ENSP00000396778:S178G	.	S	-	1	0	EFHB	19922213	0.006000	0.16342	0.994000	0.49952	0.869000	0.49853	1.056000	0.30480	2.037000	0.60232	0.402000	0.26972	AGT		0.398	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2		NM_144715		27	43	0	0	0	0.00632	0	27	43		
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					uc011axg.1		NaN																	0				ovary(1)	1						c.(1390-1392)CAT>CGT		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1940	+			464			C2H2-type 9.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1				7	138	0	0	0	0.001984	0	7	138		
MAP4	4134	broad.mit.edu	37	3	47958161	47958161	+	Missense_Mutation	SNP	T	T	C	rs142423472	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:47958161T>C	ENST00000360240.6	-	7	1674	c.1156A>G	c.(1156-1158)Ata>Gta	p.I386V	MAP4_ENST00000395734.3_Missense_Mutation_p.I386V|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.I403V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	386	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TCCATTTTTATAGGAGATGCC	0.453																																						uc003csb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1156-1158)ATA>GTA		microtubule-associated protein 4 isoform 1		T	VAL/ILE,VAL/ILE	0,4406		0,0,2203	146.0	147.0	147.0		1156,1156	0.4	0.0	3	dbSNP_134	147	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	MAP4	NM_001134364.1,NM_002375.4	29,29	0,5,6498	CC,CT,TT		0.0581,0.0,0.0384	benign,benign	386/1136,386/1153	47958161	5,13001	2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958161T>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1156A>G	3.37:g.47958161T>C	ENSP00000353375:p.Ile386Val					MAP4_uc003csc.3_Missense_Mutation_p.I386V|MAP4_uc011bbf.1_Missense_Mutation_p.I363V|MAP4_uc003csf.3_Missense_Mutation_p.I403V	p.I386V	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	7	1682	-			386			17 X 14 AA tandem repeats.|26 residues 2.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1156A>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	T	3.784	-0.045118	0.07452	0.0	5.81E-4	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.06608	3.28;3.29;3.33	0.372	0.372	0.16173	.	.	.	.	.	T	0.03348	0.0097	N	0.19112	0.55	0.22354	N	0.999178	B;B;B	0.29162	0.091;0.235;0.008	B;B;B	0.21708	0.036;0.026;0.021	T	0.47114	-0.9142	8	0.12430	T	0.62	.	.	.	.	.	363;386;386	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	V	386;403;386	ENSP00000379083:I386V;ENSP00000407602:I403V;ENSP00000353375:I386V	ENSP00000353375:I386V	I	-	1	0	MAP4	47933165	0.000000	0.05858	0.048000	0.18961	0.328000	0.28507	-0.130000	0.10498	0.384000	0.24942	0.076000	0.15429	ATA		0.453	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375		38	162	0	0	0	0.00874	0	38	162		
MORC1	27136	broad.mit.edu	37	3	108812380	108812380	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:108812380G>T	ENST00000483760.1	-	8	635	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	MORC1_ENST00000232603.5_Missense_Mutation_p.L198M					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAAATAACCAGCAAAGTACCT	0.363																																						uc003dxl.2		NaN																	0				ovary(3)|skin(3)|breast(2)	8						c.(592-594)CTG>ATG		MORC family CW-type zinc finger 1							93.0	93.0	93.0					3																	108812380		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812380G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.592C>A	3.37:g.108812380G>T	ENSP00000417282:p.Leu198Met					MORC1_uc011bhn.1_Missense_Mutation_p.L198M	p.L198M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			8	679	-			198						Missense_Mutation	SNP	ENST00000483760.1	37	c.592C>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617828	0.66787	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.74421	-0.84;-0.84	5.19	4.28	0.50868	ATPase-like, ATP-binding domain (2);	0.215967	0.23686	N	0.045574	D	0.82811	0.5118	M	0.72118	2.19	0.37779	D	0.926969	D;D	0.76494	0.999;0.983	D;P	0.66716	0.946;0.887	D	0.84909	0.0847	10	0.59425	D	0.04	-8.7624	11.4156	0.49949	0.0:0.2805:0.7195:0.0	.	198;198	E7ERX1;Q86VD1	.;MORC1_HUMAN	M	198	ENSP00000232603:L198M;ENSP00000417282:L198M	ENSP00000232603:L198M	L	-	1	2	MORC1	110295070	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.553000	0.36255	2.709000	0.92574	0.655000	0.94253	CTG		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1				17	41	1	0	1.55795e-14	0.012319	2.01617e-14	17	41		
PLCH1	23007	broad.mit.edu	37	3	155206449	155206449	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr3:155206449C>A	ENST00000340059.7	-	19	2502	c.2503G>T	c.(2503-2505)Ggc>Tgc	p.G835C	PLCH1_ENST00000414191.1_Splice_Site_p.G817C|PLCH1_ENST00000447496.2_Splice_Site_p.G835C|PLCH1_ENST00000334686.6_Splice_Site_p.G817C|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Splice_Site_p.G835C|PLCH1_ENST00000460012.1_Splice_Site_p.G817C	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	835					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATACCTACCAGGCACTAAG	0.418																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.(2503-2505)GGC>TGC		phospholipase C eta 1 isoform a							113.0	89.0	97.0					3																	155206449		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206449C>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2503+1G>T	3.37:g.155206449C>A						PLCH1_uc011boj.1_Missense_Mutation_p.G835C|PLCH1_uc011bol.1_Missense_Mutation_p.G817C	p.G835C	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		19	2780	-			835					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2503G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987007	0.93106	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.42	5.42	0.78866	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.050831	0.85682	D	0.000000	T	0.44912	0.1316	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.28554	-1.0040	9	.	.	.	.	19.2225	0.93803	0.0:1.0:0.0:0.0	.	817;835;835	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	C	835;817;835;835;817;817	ENSP00000419100:G835C;ENSP00000417502:G817C;ENSP00000402759:G835C;ENSP00000345988:G835C;ENSP00000335469:G817C;ENSP00000412977:G817C	.	G	-	1	0	PLCH1	156689143	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.380000	0.79704	2.519000	0.84933	0.655000	0.94253	GGC		0.418	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996	Missense_Mutation	15	31	1	0	2.35188e-11	0.006122	2.90139e-11	15	31		
CYTL1	54360	broad.mit.edu	37	4	5016903	5016903	+	Missense_Mutation	SNP	G	G	A	rs200085707	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:5016903G>A	ENST00000307746.4	-	4	412	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	129					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.T129M(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGGCAGGACCGTAGTCACTGG	0.483													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21785	0.0		0.001	False		,,,				2504	0.0				Colon(15;457 478 29696 43408 47165)	uc003gig.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(385-387)ACG>ATG		cytokine-like 1 precursor							132.0	115.0	121.0					4																	5016903		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016903G>A	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.386C>T	4.37:g.5016903G>A	ENSP00000303550:p.Thr129Met						p.T129M	NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	411	-			129						Missense_Mutation	SNP	ENST00000307746.4	37	c.386C>T	CCDS3379.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	15.32|15.32	2.798676|2.798676	0.50208|0.50208	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000509419|ENST00000307746	.|T	.|0.32753	.|1.44	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|0.340710	.|0.27976	.|N	.|0.017094	T|T	0.49558|0.49558	0.1564|0.1564	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.64144	.|0.922	T|T	0.41142|0.41142	-0.9525|-0.9525	5|10	.|0.66056	.|D	.|0.02	-13.5678|-13.5678	12.4815|12.4815	0.55844|0.55844	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|129	.|Q9NRR1	.|CYTL1_HUMAN	W|M	85|129	.|ENSP00000303550:T129M	.|ENSP00000303550:T129M	R|T	-|-	1|2	2|0	CYTL1|CYTL1	5067804|5067804	0.623000|0.623000	0.27094|0.27094	0.014000|0.014000	0.15608|0.15608	0.007000|0.007000	0.05969|0.05969	0.983000|0.983000	0.29552|0.29552	1.987000|1.987000	0.57996|0.57996	0.511000|0.511000	0.50034|0.50034	CGG|ACG		0.483	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1		NM_018659		18	49	0	0	0	0.003954	0	18	49		
LRRC66	339977	broad.mit.edu	37	4	52862091	52862091	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:52862091C>T	ENST00000343457.3	-	4	1103	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	366						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTCTTTTTTGCCGGCAGCCTG	0.592																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1096-1098)GGC>GAC		leucine rich repeat containing 66							34.0	37.0	36.0					4																	52862091		1972	4159	6131	SO:0001583	missense	339977					integral to membrane		g.chr4:52862091C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1097G>A	4.37:g.52862091C>T	ENSP00000341944:p.Gly366Asp						p.G366D	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1110	-			366						Missense_Mutation	SNP	ENST00000343457.3	37	c.1097G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	3.980	-0.006613	0.07773	.	.	ENSG00000188993	ENST00000343457	T	0.44083	0.93	4.42	-5.41	0.02648	.	1.683770	0.03113	N	0.162707	T	0.21801	0.0525	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11131	-1.0600	10	0.15066	T	0.55	-0.0036	5.1079	0.14794	0.1117:0.1451:0.1106:0.6326	.	366	Q68CR7	LRC66_HUMAN	D	366	ENSP00000341944:G366D	ENSP00000341944:G366D	G	-	2	0	LRRC66	52556848	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.627000	0.05521	-0.910000	0.03847	0.467000	0.42956	GGC		0.592	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		6	27	0	0	0	0.001168	0	6	27		
SHROOM3	57619	broad.mit.edu	37	4	77700119	77700119	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:77700119T>C	ENST00000296043.6	+	11	6733	c.5780T>C	c.(5779-5781)aTg>aCg	p.M1927T	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1927	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTCGTGAAAATGAAGTCCACG	0.547																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(5779-5781)ATG>ACG		shroom family member 3 protein							101.0	98.0	99.0					4																	77700119		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77700119T>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5780T>C	4.37:g.77700119T>C	ENSP00000296043:p.Met1927Thr					SHROOM3_uc003hkg.2_Missense_Mutation_p.M1705T	p.M1927T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6733	+			1927			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.5780T>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642456	0.67244	.	.	ENSG00000138771	ENST00000296043	T	0.37058	1.22	5.31	5.31	0.75309	Apx/shroom, ASD2 (2);	0.308751	0.35646	N	0.003067	T	0.58133	0.2101	M	0.66506	2.035	0.54753	D	0.999988	D	0.71674	0.998	D	0.69824	0.966	T	0.62124	-0.6920	10	0.87932	D	0	-19.0383	15.441	0.75181	0.0:0.0:0.0:1.0	.	1927	Q8TF72	SHRM3_HUMAN	T	1927	ENSP00000296043:M1927T	ENSP00000296043:M1927T	M	+	2	0	SHROOM3	77919143	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.961000	0.49168	2.243000	0.73865	0.482000	0.46254	ATG		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		24	82	0	0	0	0.005443	0	24	82		
ANK2	287	broad.mit.edu	37	4	114286340	114286340	+	Splice_Site	SNP	T	T	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:114286340T>G	ENST00000357077.4	+	41	11085		c.e41+2		ANK2_ENST00000394537.3_Splice_Site|ANK2_ENST00000510275.2_Splice_Site|ANK2_ENST00000506722.1_Splice_Site|ANK2_ENST00000264366.6_Splice_Site|ANK2_ENST00000509550.1_Splice_Site	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal						atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAGTGAAGGTCAAACtgtgt	0.428																																						uc003ibe.3		NaN																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.e41+2		ankyrin 2 isoform 1							104.0	78.0	87.0					4																	114286340		2203	4300	6503	SO:0001630	splice_region_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114286340T>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11032+2T>G	4.37:g.114286340T>G						ANK2_uc003ibd.3_Splice_Site_p.G1584_splice|ANK2_uc003ibf.3_Splice_Site_p.G1593_splice|ANK2_uc011cgc.1_Splice_Site_p.G769_splice|ANK2_uc003ibg.3_Splice_Site_p.G577_splice|ANK2_uc003ibh.3_Splice_Site_p.G267_splice|ANK2_uc011cgd.1_Splice_Site_p.G980_splice	p.G3678_splice	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	41	11132	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)						Q01485|Q08AC7|Q08AC8|Q7Z3L5	Splice_Site	SNP	ENST00000357077.4	37	c.11032_splice	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345386	0.82022	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000514960;ENST00000510275;ENST00000505342	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9701	0.71226	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANK2	114505789	1.000000	0.71417	0.990000	0.47175	0.942000	0.58702	7.557000	0.82243	1.946000	0.56461	0.459000	0.35465	.		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148	Intron	7	49	0	0	0	0.001984	0	7	49		
DCHS2	54798	broad.mit.edu	37	4	155191121	155191121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:155191121G>A	ENST00000357232.4	-	19	5142	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1715	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGCTGTCCTGAATTGAGTCA	0.338																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(5143-5145)CAG>TAG		dachsous 2 isoform 1							80.0	79.0	80.0					4																	155191121		2203	4299	6502	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155191121G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5143C>T	4.37:g.155191121G>A	ENSP00000349768:p.Gln1715*						p.Q1715*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	19	5143	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1715			Cadherin 15.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.5143C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	40	7.961426	0.98583	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.55	1.88	0.25563	.	2.083320	0.02261	N	0.067530	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	7.5194	0.27618	0.203:0.5363:0.2607:0.0	.	.	.	.	X	1715	.	ENSP00000349768:Q1715X	Q	-	1	0	DCHS2	155410571	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.338000	0.19858	0.029000	0.15352	-0.136000	0.14681	CAG		0.338	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		21	69	0	0	0	0.005443	0	21	69		
ADAMTS6	11174	broad.mit.edu	37	5	64537939	64537939	+	IGR	SNP	T	T	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:64537939T>C								ADAMTS6 (43347 upstream) : ADAMTS6 (55095 downstream)																							ACCTCCAGTATAGGGTTTCCA	0.378																																						uc003jtp.2		NaN																	0					0						c.(1924-1926)TAT>TGT		ADAM metallopeptidase with thrombospondin type 1							94.0	98.0	96.0					5																	64537939		2203	4300	6503	SO:0001628	intergenic_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64537939T>C																													5.37:g.64537939T>C						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.Y263C	p.Y642C	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	15	2739	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	642						Missense_Mutation	SNP		37	c.1925A>G		.	.	.	.	.	.	.	.	.	.	T	18.27	3.586112	0.66105	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.06933	3.24;3.24	5.47	4.29	0.51040	.	0.110894	0.64402	D	0.000005	T	0.33789	0.0875	H	0.94808	3.585	0.80722	D	1	D;D	0.60575	0.975;0.988	P;P	0.60345	0.77;0.873	T	0.39722	-0.9600	10	0.51188	T	0.08	.	11.7712	0.51960	0.132:0.0:0.0:0.868	.	642;642	D6R9L6;Q9UKP5	.;ATS6_HUMAN	C	642;592;642	ENSP00000370443:Y642C;ENSP00000423551:Y642C	ENSP00000261306:Y592C	Y	-	2	0	ADAMTS6	64573695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.859000	0.69539	0.884000	0.36064	0.460000	0.39030	TAT	0	0.378										9	40	0	0	0	0.010729	0	9	40		
LVRN	206338	broad.mit.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:115323525C>T	ENST00000357872.4	+	4	1118	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		332						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R332W(1)									CATCTGGGCCCGGAAAGATGC	0.418																																						uc003kro.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(994-996)CGG>TGG		laeverin							139.0	131.0	134.0					5																	115323525		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115323525C>T																												ENST00000357872.4:c.994C>T	5.37:g.115323525C>T	ENSP00000350541:p.Arg332Trp					AQPEP_uc003krp.2_RNA	p.R332W	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			4	1158	+			332			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.994C>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323835	0.60634	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03124	4.04	5.14	5.14	0.70334	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.353012	0.24271	N	0.039991	T	0.19208	0.0461	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00143	-1.1996	10	0.87932	D	0	.	11.6419	0.51237	0.0:0.9131:0.0:0.0869	.	332	Q6Q4G3	AMPQ_HUMAN	W	332;321	ENSP00000350541:R332W	ENSP00000350541:R332W	R	+	1	2	AC010282.1	115351424	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.097000	0.50251	2.374000	0.81015	0.563000	0.77884	CGG		0.418	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1				13	75	0	0	0	0.00245	0	13	75		
PCDHGA2	56113	broad.mit.edu	37	5	140718896	140718896	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140718896G>C	ENST00000394576.2	+	1	358	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATTCAGTAGAGGTGGAAAT	0.458																																						uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(358-360)GAG>CAG		protocadherin gamma subfamily A, 2 isoform 1							59.0	63.0	62.0					5																	140718896		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140718896G>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.358G>C	5.37:g.140718896G>C	ENSP00000378077:p.Glu120Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E120Q	p.E120Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	543	+			120			Cadherin 1.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.358G>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.722967	0.30503	.	.	ENSG00000081853	ENST00000394576	T	0.15256	2.44	5.26	4.4	0.53042	Cadherin (3);Cadherin-like (1);	0.169732	0.27143	U	0.020723	T	0.29355	0.0731	M	0.85299	2.745	0.21719	N	0.999574	B;B	0.34214	0.4;0.442	B;B	0.40506	0.331;0.178	T	0.20107	-1.0285	10	0.52906	T	0.07	.	10.2848	0.43560	0.1535:0.0:0.8465:0.0	.	120;120	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	120	ENSP00000378077:E120Q	ENSP00000378077:E120Q	E	+	1	0	PCDHGA2	140699080	0.030000	0.19436	0.991000	0.47740	0.812000	0.45895	2.272000	0.43373	1.362000	0.46000	-0.150000	0.13652	GAG		0.458	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		5	54	0	0	0	0.001984	0	5	54		
PCDHGB2	56103	broad.mit.edu	37	5	140740084	140740084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr5:140740084G>A	ENST00000522605.1	+	1	382	c.382G>A	c.(382-384)Gat>Aat	p.D128N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATAAATGATAATACCCC	0.398																																						uc003ljs.1		NaN																	0					0						c.(382-384)GAT>AAT		protocadherin gamma subfamily B, 2 isoform 1							47.0	48.0	48.0					5																	140740084		1824	4082	5906	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740084G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.382G>A	5.37:g.140740084G>A	ENSP00000429018:p.Asp128Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D128N	p.D128N	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	382	+			128			Extracellular (Potential).|Cadherin 1.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.382G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	19.75	3.885905	0.72410	.	.	ENSG00000253910	ENST00000522605	T	0.53640	0.61	5.31	5.31	0.75309	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83940	0.5363	H	0.99659	4.685	0.42989	D	0.994483	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91569	0.5270	9	0.87932	D	0	.	18.9356	0.92584	0.0:0.0:1.0:0.0	.	128;128	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	128	ENSP00000429018:D128N	ENSP00000429018:D128N	D	+	1	0	PCDHGB2	140720268	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	9.687000	0.98667	2.628000	0.89032	0.563000	0.77884	GAT		0.398	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1		NM_018923		14	29	0	0	0	0.00245	0	14	29		
FAM8A1	51439	broad.mit.edu	37	6	17601039	17601039	+	Silent	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:17601039C>T	ENST00000259963.3	+	1	454	c.399C>T	c.(397-399)agC>agT	p.S133S		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	133						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGGCACAGCGGCCTGGCCG	0.736																																						uc003ncc.2		NaN																	0					0						c.(397-399)AGC>AGT		family with sequence similarity 8, member A1							16.0	19.0	18.0					6																	17601039		2108	4150	6258	SO:0001819	synonymous_variant	51439					integral to membrane		g.chr6:17601039C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.399C>T	6.37:g.17601039C>T							p.S133S	NM_016255	NP_057339	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		1	522	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	133					B2R725	Silent	SNP	ENST00000259963.3	37	c.399C>T	CCDS4540.1																																																																																				0.736	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1				12	49	0	0	0	0.00245	0	12	49		
HIST1H2AC	8334	broad.mit.edu	37	6	26124513	26124513	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:26124513G>C	ENST00000602637.1	+	1	83	c.53G>C	c.(52-54)cGc>cCc	p.R18P	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R18P			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	18						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GCGAAATCCCGCTCTTCTCGC	0.597																																						uc003ngm.2		NaN																	0					0						c.(52-54)CGC>CCC		histone cluster 1, H2ac							54.0	54.0	54.0					6																	26124513		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124513G>C	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.53G>C	6.37:g.26124513G>C	ENSP00000473534:p.Arg18Pro					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R18P	p.R18P	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	141	+			18					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.53G>C	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	17.34	3.363668	0.61513	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.70749	-0.51;-0.51	5.69	5.69	0.88448	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.45361	D	0.000368	D	0.89213	0.6651	H	0.98612	4.28	0.52501	D	0.999955	D	0.58620	0.983	P	0.61800	0.894	D	0.92591	0.6083	10	0.87932	D	0	.	19.1485	0.93477	0.0:0.0:1.0:0.0	.	18	Q93077	H2A1C_HUMAN	P	18	ENSP00000367022:R18P;ENSP00000321389:R18P	ENSP00000321389:R18P	R	+	2	0	HIST1H2AC	26232492	1.000000	0.71417	0.272000	0.24630	0.012000	0.07955	9.518000	0.98022	2.843000	0.97960	0.591000	0.81541	CGC		0.597	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1		NM_003512		13	38	0	0	0	0.006122	0	13	38		
MLIP	90523	broad.mit.edu	37	6	53989534	53989534	+	Silent	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:53989534C>A	ENST00000274897.5	+	3	596	c.483C>A	c.(481-483)ccC>ccA	p.P161P	MLIP_ENST00000514921.1_Silent_p.P161P|MLIP_ENST00000370877.2_Silent_p.P109P|MLIP_ENST00000370876.2_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P155P|MLIP_ENST00000509997.1_Silent_p.P109P|MLIP_ENST00000502396.1_Silent_p.P172P|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	161						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGTCCGGCCCAAGTCTCTAG	0.527																																						uc003pcg.3		NaN																	0					0						c.(481-483)CCC>CCA		hypothetical protein LOC90523							79.0	76.0	77.0					6																	53989534		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989534C>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.483C>A	6.37:g.53989534C>A						C6orf142_uc003pcf.2_Silent_p.P161P|C6orf142_uc003pch.3_Silent_p.P99P|C6orf142_uc011dwz.1_Silent_p.P120P|C6orf142_uc011dxa.1_Silent_p.P172P	p.P161P	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			3	596	+	Lung NSC(77;0.0317)		161					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.483C>A	CCDS4954.1																																																																																				0.527	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3		NM_138569		23	68	1	0	1.75199e-13	0.007291	2.24526e-13	23	68		
CEP57L1	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:109484117C>T	ENST00000517392.1	+	11	1753	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.R390*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.R446*|CEP57L1_ENST00000407272.1_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.R460*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000368968.2_3'UTR|C6orf183_ENST00000417143.3_RNA	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	443					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R443*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						TCATCCAATACGAGTTCATAA	0.358																																						uc010kdk.2		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1327-1329)CGA>TGA		hypothetical protein LOC285753							69.0	69.0	69.0					6																	109484117		2203	4300	6503	SO:0001587	stop_gained	285753					microtubule|microtubule organizing center		g.chr6:109484117C>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1327C>T	6.37:g.109484117C>T	ENSP00000427844:p.Arg443*					C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Nonsense_Mutation_p.R443*|C6orf182_uc003psy.3_Nonsense_Mutation_p.R443*	p.R443*	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	13	1904	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	443					G5E992	Nonsense_Mutation	SNP	ENST00000517392.1	37	c.1327C>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100145	0.76983	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	.	.	.	5.47	2.51	0.30379	.	0.400023	0.26662	N	0.023158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.003	4.2372	0.10632	0.3777:0.4858:0.0:0.1365	.	.	.	.	X	443;443;343;390;460;343;446;443	.	ENSP00000337392:R343X	R	+	1	2	CEP57L1	109590810	0.001000	0.12720	0.969000	0.41365	0.952000	0.60782	0.829000	0.27449	1.410000	0.46936	0.591000	0.81541	CGA		0.358	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4		NM_173830		6	30	0	0	0	0.001168	0	6	30		
THBS2	7058	broad.mit.edu	37	6	169632172	169632172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr6:169632172G>A	ENST00000366787.3	-	14	2303	c.2054C>T	c.(2053-2055)gCg>gTg	p.A685V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	685	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCGTCGCCCGCGTAGCCTGT	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(2053-2055)GCG>GTG		thrombospondin 2 precursor							154.0	128.0	137.0					6																	169632172		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632172G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2054C>T	6.37:g.169632172G>A	ENSP00000355751:p.Ala685Val						p.A685V	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2302	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	685			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2054C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021100	0.93462	.	.	ENSG00000186340	ENST00000366787	D	0.90069	-2.61	4.15	4.15	0.48705	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40728	U	0.001025	D	0.91998	0.7465	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93115	0.6520	10	0.72032	D	0.01	-33.5722	16.7836	0.85568	0.0:0.0:1.0:0.0	.	685	P35442	TSP2_HUMAN	V	685	ENSP00000355751:A685V	ENSP00000355751:A685V	A	-	2	0	THBS2	169374097	1.000000	0.71417	0.760000	0.31359	0.875000	0.50365	9.202000	0.95026	2.016000	0.59253	0.297000	0.19635	GCG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		30	89	0	0	0	0.012213	0	30	89		
SCIN	85477	broad.mit.edu	37	7	12680101	12680101	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:12680101C>G	ENST00000297029.5	+	11	1641	c.1540C>G	c.(1540-1542)Caa>Gaa	p.Q514E	SCIN_ENST00000445618.2_Missense_Mutation_p.Q267E|SCIN_ENST00000519209.1_Missense_Mutation_p.Q267E	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	514	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACGCCTCTTTCAAGTCCGGAG	0.458																																						uc003ssn.3		NaN																	0				ovary(2)	2						c.(1540-1542)CAA>GAA		scinderin isoform 1							55.0	53.0	54.0					7																	12680101		1882	4111	5993	SO:0001583	missense	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12680101C>G	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1540C>G	7.37:g.12680101C>G	ENSP00000297029:p.Gln514Glu					SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.Q267E	p.Q514E	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	11	1750	+			514			Ca(2+)-dependent actin binding.		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	c.1540C>G	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697312	0.88830	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.43688	0.94;0.94;0.94	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.88704	2.975	0.58432	D	0.999999	P	0.50369	0.934	P	0.48654	0.585	T	0.72861	-0.4164	10	0.87932	D	0	-11.8589	17.5429	0.87853	0.0:1.0:0.0:0.0	.	514	Q9Y6U3	ADSV_HUMAN	E	514;267;267	ENSP00000297029:Q514E;ENSP00000430997:Q267E;ENSP00000390189:Q267E	ENSP00000297029:Q514E	Q	+	1	0	SCIN	12646626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.127000	0.65507	0.561000	0.74099	CAA		0.458	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1		NM_033128		3	21	0	0	0	0.009096	0	3	21		
CNTNAP2	26047	broad.mit.edu	37	7	146829367	146829367	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:146829367T>A	ENST00000361727.3	+	8	1630	c.1114T>A	c.(1114-1116)Tat>Aat	p.Y372N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	372					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTGGAACCCTATACGGTGCC	0.448										HNSCC(39;0.1)																												uc003weu.1		NaN																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1114-1116)TAT>AAT		cell recognition molecule Caspr2 precursor							120.0	119.0	119.0					7																	146829367		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829367T>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1114T>A	7.37:g.146829367T>A	ENSP00000354778:p.Tyr372Asn	HNSCC(39;0.1)					p.Y372N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1630	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	372			Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1114T>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635544	0.47049	.	.	ENSG00000174469	ENST00000361727	D	0.88277	-2.36	5.7	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);	0.091679	0.44285	D	0.000478	T	0.67192	0.2867	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62148	-0.6915	10	0.16896	T	0.51	.	3.8679	0.09024	0.0:0.2777:0.0:0.7223	.	372	Q9UHC6	CNTP2_HUMAN	N	372	ENSP00000354778:Y372N	ENSP00000354778:Y372N	Y	+	1	0	CNTNAP2	146460300	1.000000	0.71417	0.989000	0.46669	0.899000	0.52679	3.008000	0.49544	2.169000	0.68431	0.482000	0.46254	TAT		0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				37	95	0	0	0	0.013114	0	37	95		
SSPO	23145	broad.mit.edu	37	7	149522398	149522398	+	RNA	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:149522398C>T	ENST00000378016.2	+	0	14028							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTATTCACCCTGGACTGTG	0.637																																						uc010lpk.2		NaN																	0					0						c.(14023-14025)ACC>ACT		SCO-spondin precursor							84.0	94.0	91.0					7																	149522398		2124	4247	6371			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522398C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522398C>T						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA	p.T4675T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		101	14025	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4675			TIL 6.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.14025C>T																																																																																					0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					67	135	0	0	0	0.01441	0	67	135		
DEFA5	1670	broad.mit.edu	37	8	6914048	6914048	+	Splice_Site	SNP	C	C	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:6914048C>A	ENST00000330590.2	-	1	208	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	58					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGTCTCCTACCTGAGGTTCTA	0.463																																						uc003wra.1		NaN																	0					0						c.(172-174)GGT>TGT		defensin, alpha 5 preproprotein							131.0	123.0	125.0					8																	6914048		2203	4300	6503	SO:0001630	splice_region_variant	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6914048C>A	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.172+1G>T	8.37:g.6914048C>A							p.G58C	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	212	-			58					A0JDY6|Q3KNV2	Missense_Mutation	SNP	ENST00000330590.2	37	c.172G>T	CCDS5963.1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.676032	0.29783	.	.	ENSG00000164816	ENST00000330590	T	0.24723	1.84	2.63	0.601	0.17529	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	T	0.16808	-1.0390	7	.	.	.	.	3.156	0.06504	0.2578:0.5859:0.0:0.1563	.	58	Q01523	DEF5_HUMAN	C	58	ENSP00000329890:G58C	.	G	-	1	0	DEFA5	6901458	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	-0.227000	0.09126	-0.001000	0.14495	0.558000	0.71614	GGT		0.463	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1		NM_021010	Missense_Mutation	8	77	1	0	3.07112e-06	0.010729	3.61953e-06	8	77		
PLAT	5327	broad.mit.edu	37	8	42045071	42045071	+	Silent	SNP	G	G	A	rs114679748		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr8:42045071G>A	ENST00000220809.4	-	6	640	c.384C>T	c.(382-384)taC>taT	p.Y128Y	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000352041.3_Silent_p.Y82Y|PLAT_ENST00000429089.2_Silent_p.Y128Y|PLAT_ENST00000270189.6_Silent_p.Y128Y|PLAT_ENST00000524009.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	128	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CCTGGTCCTCGTAGCACGTGG	0.632																																						uc003xos.2		NaN																	0				breast(1)|skin(1)	2						c.(382-384)TAC>TAT		plasminogen activator, tissue isoform 1	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						41.0	34.0	37.0					8																	42045071		2203	4299	6502	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42045071G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.384C>T	8.37:g.42045071G>A						PLAT_uc010lxf.1_Silent_p.Y45Y|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Silent_p.Y82Y|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron	p.Y128Y	NM_000930	NP_000921	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	593	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	128			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.384C>T	CCDS6126.1																																																																																				0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1		NM_000930		13	42	0	0	0	0.00499	0	13	42		
HSPA5	3309	broad.mit.edu	37	9	127999293	127999293	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:127999293C>G	ENST00000324460.6	-	8	1746	c.1543G>C	c.(1543-1545)Gac>Cac	p.D515H		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	515					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GTACCCTTGTCTTCAGCTGTC	0.438										Prostate(1;0.17)																												uc004bpn.2		NaN																	0				ovary(3)|skin(1)	4						c.(1543-1545)GAC>CAC		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						151.0	149.0	150.0					9																	127999293		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999293C>G		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1543G>C	9.37:g.127999293C>G	ENSP00000324173:p.Asp515His	Prostate(1;0.17)					p.D515H	NM_005347	NP_005338	P11021	GRP78_HUMAN			8	1799	-			515					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1543G>C	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364569	0.82463	.	.	ENSG00000044574	ENST00000324460	T	0.01185	5.21	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35822	-0.9773	10	0.87932	D	0	-12.3178	17.816	0.88634	0.0:1.0:0.0:0.0	.	515	P11021	GRP78_HUMAN	H	515	ENSP00000324173:D515H	ENSP00000324173:D515H	D	-	1	0	HSPA5	127039114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.449000	0.82847	0.585000	0.79938	GAC		0.438	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1				37	145	0	0	0	0.01441	0	37	145		
LCN15	389812	broad.mit.edu	37	9	139656658	139656658	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr9:139656658C>T	ENST00000316144.5	-	5	526	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	168					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GGCAGCATGACCATCATGTCC	0.657																																						uc004cjd.2		NaN																	0					0						c.(502-504)GTC>ATC		lipocalin 15 precursor							19.0	20.0	19.0					9																	139656658		2190	4294	6484	SO:0001583	missense	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139656658C>T		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.502G>A	9.37:g.139656658C>T	ENSP00000313833:p.Val168Ile						p.V168I	NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN			5	527	-			168						Missense_Mutation	SNP	ENST00000316144.5	37	c.502G>A	CCDS7006.1	.	.	.	.	.	.	.	.	.	.	C	1.095	-0.662794	0.03454	.	.	ENSG00000177984	ENST00000316144	T	0.08720	3.06	4.0	0.408	0.16377	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.101690	0.07243	U	0.864651	T	0.05777	0.0151	L	0.37561	1.115	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.46470	-0.9189	10	0.09084	T	0.74	.	3.0284	0.06098	0.1864:0.5387:0.1604:0.1145	.	168	Q6UWW0	LCN15_HUMAN	I	168	ENSP00000313833:V168I	ENSP00000313833:V168I	V	-	1	0	LCN15	138776479	0.002000	0.14202	0.011000	0.14972	0.019000	0.09904	0.987000	0.29603	0.196000	0.20367	-0.150000	0.13652	GTC		0.657	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2		NM_203347		3	8	0	0	0	0.00308	0	3	8		
FRMPD4	9758	broad.mit.edu	37	X	12736410	12736410	+	Silent	SNP	C	C	T	rs373725511		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:12736410C>T	ENST00000380682.1	+	16	3971	c.3465C>T	c.(3463-3465)acC>acT	p.T1155T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1155					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CTGACGTGACCTGTGCATCTT	0.562																																						uc004cuz.1		NaN																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3463-3465)ACC>ACT		FERM and PDZ domain containing 4							170.0	155.0	160.0					X																	12736410		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736410C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3465C>T	X.37:g.12736410C>T						FRMPD4_uc011mij.1_Silent_p.T1147T	p.T1155T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	3971	+			1155					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3465C>T	CCDS35201.1																																																																																				0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712		60	52	0	0	0	0.01441	0	60	52		
ZNF645	158506	broad.mit.edu	37	X	22291514	22291514	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chrX:22291514C>T	ENST00000323684.1	+	1	450	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	136	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCATATCAAACGCCGCCATAA	0.438																																						uc004dai.1		NaN																	0				lung(1)|pancreas(1)	2						c.(406-408)CGC>TGC		zinc finger protein 645							61.0	56.0	58.0					X																	22291514		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291514C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.406C>T	X.37:g.22291514C>T	ENSP00000323348:p.Arg136Cys						p.R136C	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	455	+			136			C2H2-type.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.406C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513547	0.44763	.	.	ENSG00000175809	ENST00000323684	T	0.32023	1.47	3.62	1.84	0.25277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.181068	0.47852	U	0.000204	T	0.20577	0.0495	N	0.22421	0.69	0.09310	N	1	P	0.51933	0.949	P	0.44696	0.458	T	0.09400	-1.0676	10	0.87932	D	0	.	6.9473	0.24526	0.0:0.7547:0.0:0.2453	.	136	Q8N7E2	ZN645_HUMAN	C	136	ENSP00000323348:R136C	ENSP00000323348:R136C	R	+	1	0	ZNF645	22201435	0.998000	0.40836	0.000000	0.03702	0.003000	0.03518	1.751000	0.38339	0.374000	0.24650	0.529000	0.55759	CGC		0.438	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1		NM_152577		11	22	0	0	0	0.013537	0	11	22		
FMO5	2330	broad.mit.edu	37	1	146684955	146684955	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr1:146684955delT	ENST00000254090.4	-	4	795	c.407delA	c.(406-408)aagfs	p.K136fs	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Frame_Shift_Del_p.K136fs|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000369272.3_Frame_Shift_Del_p.K136fs	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	136						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATTCATCTCCTTTTTCCCTTC	0.473																																						uc001epi.2		NaN																	0				ovary(3)	3						c.(406-408)AAGfs		flavin containing monooxygenase 5 isoform 1							312.0	280.0	291.0					1																	146684955		2203	4300	6503	SO:0001589	frameshift_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684955delT	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.407delA	1.37:g.146684955delT	ENSP00000254090:p.Lys136fs					FMO5_uc001eph.3_Frame_Shift_Del_p.K136fs|FMO5_uc001epj.2_Frame_Shift_Del_p.K136fs|FMO5_uc001epk.3_Frame_Shift_Del_p.K136fs	p.K136fs	NM_001461	NP_001452	P49326	FMO5_HUMAN			4	796	-	all_hematologic(923;0.0487)		136					B2RBG1|C9JJD1|Q8IV22	Frame_Shift_Del	DEL	ENST00000254090.4	37	c.407delA	CCDS926.1																																																																																				0.473	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461		8	600	NaN	NaN	NaN	NaN	NaN	8	600	---	---
TET1	80312	broad.mit.edu	37	10	70446227	70446228	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:70446227_70446228insA	ENST00000373644.4	+	11	5376_5377	c.5167_5168insA	c.(5167-5169)gaafs	p.E1723fs		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1723					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGCTCCAAGGAAGGAATGGAA	0.495																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(5167-5169)GAAfs		CXXC finger 6																																				SO:0001589	frameshift_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70446227_70446228insA	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5169dupA	10.37:g.70446229_70446229dupA	ENSP00000362748:p.Glu1723fs						p.E1723fs	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			11	5672_5673	+			1723					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Frame_Shift_Ins	INS	ENST00000373644.4	37	c.5167_5168insA	CCDS7281.1																																																																																				0.495	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		26	88	NaN	NaN	NaN	NaN	NaN	26	88	---	---
CDHR1	92211	broad.mit.edu	37	10	85974343	85974345	+	In_Frame_Del	DEL	AGA	AGA	-	rs150926842	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:85974343_85974345delAGA	ENST00000372117.3	+	17	2649_2651	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K851del	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_In_Frame_Del_p.K555del	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	851					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CAAAAGTTTGAGAAGAAGAGTGT	0.562											OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17	0.00339457	0.0129	0.0	5008	,	,		15572	0.0		0.0	False		,,,				2504	0.0					uc001kcv.2		NaN																	0				ovary(1)	1						c.(2545-2550)GAGAAG>GAG		protocadherin 21 precursor			,	33,4231		0,33,2099					,	5.8	1.0		dbSNP_134	93	1,8253		0,1,4126	no	coding,intron	CDHR1	NM_033100.2,NM_001171971.1	,	0,34,6225	A1A1,A1R,RR		0.0121,0.7739,0.2716	,	,		34,12484				SO:0001651	inframe_deletion	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974343_85974345delAGA	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2546_2548delAGA	10.37:g.85974349_85974351delAGA	ENSP00000361189:p.Lys851del		OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1240	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_In_Frame_Del_p.K555del|CDHR1_uc001kcx.2_In_Frame_Del_p.K165del	p.K851del	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2546_2548	+			851			Cytoplasmic (Potential).		Q69YZ8|Q8IXY5	In_Frame_Del	DEL	ENST00000372117.3	37	c.2546_2548delAGA	CCDS7372.1																																																																																				0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		NM_033100		27	121	NaN	NaN	NaN	NaN	NaN	27	121	---	---
SCD	6319	broad.mit.edu	37	10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)	uc001kqy.2		NaN																	0					0						c.(43-45)ACCdel		stearoyl-CoA desaturase 1																																				SO:0001651	inframe_deletion	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107836_102107838delACC	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del						p.T19del	NM_005063	NP_005054	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	533_535	+		Colorectal(252;0.0323)	19			Cytoplasmic (Potential).		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	ENST00000370355.2	37	c.43_45delACC	CCDS7493.1																																																																																				0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2		NM_005063		8	229	NaN	NaN	NaN	NaN	NaN	8	229	---	---
PCNX	22990	broad.mit.edu	37	14	71568799	71568800	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr14:71568799_71568800insT	ENST00000304743.2	+	31	6128_6129	c.5682_5683insT	c.(5683-5685)gggfs	p.G1895fs	PCNX_ENST00000439984.3_Frame_Shift_Ins_p.G1784fs|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Frame_Shift_Ins_p.G1823fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1895						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TAGCCCATGAAGGGGACCCTGC	0.45																																						uc001xmo.2		NaN																	0				ovary(1)	1						c.(5680-5685)GAAGGGfs		pecanex-like 1																																				SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71568799_71568800insT	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		Exception_encountered	14.37:g.71568799_71568800insT	ENSP00000304192:p.Gly1895fs					PCNX_uc010are.1_Frame_Shift_Ins_p.E1783fs|PCNX_uc010arf.1_Frame_Shift_Ins_p.E682fs|PCNX_uc001xmp.2_Translation_Start_Site	p.E1894fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	31	6128_6129	+			1894_1895					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Ins	INS	ENST00000304743.2	37	c.5682_5683insT	CCDS9806.1																																																																																				0.450	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982		25	240	NaN	NaN	NaN	NaN	NaN	25	240	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						uc002elq.2		NaN																	0				breast(1)	1						c.(262-264)GAGdel		coenzyme Q9 homolog precursor																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_uc002elp.1_In_Frame_Del_p.E91del|COQ9_uc010vhn.1_In_Frame_Del_p.E91del|COQ9_uc010vho.1_In_Frame_Del_p.E91del|COQ9_uc010vhp.1_In_Frame_Del_p.E91del|COQ9_uc002elr.2_In_Frame_Del_p.E91del	p.E91del	NM_020312	NP_064708	O75208	COQ9_HUMAN			3	278_280	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3		NM_020312		7	251	NaN	NaN	NaN	NaN	NaN	7	251	---	---
AKAP10	11216	broad.mit.edu	37	17	19880956	19880956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr17:19880956delG	ENST00000225737.6	-	1	194	c.37delC	c.(37-39)cgcfs	p.R13fs	AKAP10_ENST00000395536.3_Frame_Shift_Del_p.R13fs|AKAP10_ENST00000572155.1_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	13					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CGGAGGGTGCGGGGGGACTGG	0.746																																						uc002gwo.2		NaN																	0				skin(1)	1						c.(37-39)CGCfs		A-kinase anchor protein 10 precursor							2.0	3.0	2.0					17																	19880956		1305	2950	4255	SO:0001589	frameshift_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19880956delG	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.37delC	17.37:g.19880956delG	ENSP00000225737:p.Arg13fs					AKAP10_uc002gwp.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010cqw.1_Frame_Shift_Del_p.R13fs|AKAP10_uc010vze.1_5'UTR	p.R13fs	NM_007202	NP_009133	O43572	AKA10_HUMAN			1	174	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		13					B2R650|Q96AJ7	Frame_Shift_Del	DEL	ENST00000225737.6	37	c.37delC	CCDS11214.1																																																																																				0.746	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2		NM_007202		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						uc002oal.1		NaN																	0				ovary(1)	1						c.(91-93)AAGdel		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	120_122	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31			Cytoplasmic (Potential).		O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2		NM_000704		7	555	NaN	NaN	NaN	NaN	NaN	7	555	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					uc002qgj.2		NaN																	0		p.L479del(1)		large_intestine(1)|ovary(1)|skin(1)	3						c.(1417-1419)CTCdel		leukocyte immunoglobulin-like receptor,			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA	p.L479del	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1757_1759	+			479			Helical; (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4				8	86	NaN	NaN	NaN	NaN	NaN	8	86	---	---
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																						uc003hnf.2		NaN																SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Deletion - Frameshift(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1384-1386)ATTfs		SEC31 homolog A isoform 1							89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785565delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs					SEC31A_uc003hne.2_Frame_Shift_Del_p.I234fs|SEC31A_uc011ccl.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnl.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hng.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnh.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hni.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnj.2_Frame_Shift_Del_p.I462fs|SEC31A_uc011ccm.1_Frame_Shift_Del_p.I457fs|SEC31A_uc011ccn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnk.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnm.2_Frame_Shift_Del_p.I462fs|SEC31A_uc003hnn.1_Frame_Shift_Del_p.I462fs|SEC31A_uc003hno.2_Frame_Shift_Del_p.I462fs	p.I462fs	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			11	1548	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.1384delA	CCDS3596.1																																																																																				0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211		7	60	NaN	NaN	NaN	NaN	NaN	7	60	---	---
NFE2L3	9603	broad.mit.edu	37	7	26224583	26224584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:26224583_26224584insT	ENST00000056233.3	+	4	1524_1525	c.1265_1266insT	c.(1264-1269)tctttafs	p.L423fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	423					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TCTGGCCTTTCTTTAGATTCAA	0.376																																						uc003sxq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1264-1266)TCTfs		nuclear factor erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224583_26224584insT	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1268dupT	7.37:g.26224586_26224586dupT	ENSP00000056233:p.Leu423fs						p.S422fs	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	1537_1538	+			422					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Ins	INS	ENST00000056233.3	37	c.1265_1266insT	CCDS5396.1																																																																																				0.376	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1				82	120	NaN	NaN	NaN	NaN	NaN	82	120	---	---
GLI3	2737	broad.mit.edu	37	7	42116455	42116456	+	Splice_Site	INS	-	-	T			TCGA-GV-A3QG-01A-11D-A21Z-08	TCGA-GV-A3QG-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90534196-b1d8-4054-b4d5-1d29943b52bc	124003ae-aa1c-48a9-aecb-38b6995d8d27	g.chr7:42116455_42116456insT	ENST00000395925.3	-	4	452_453	c.368_369insA	c.(367-369)cac>caAc	p.H123fs	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	123					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GATGAGGAGGGTCTGAAAAGAA	0.436									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0		p.H123D(1)		lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(367-369)CACfs		GLI-Kruppel family member GLI3																																				SO:0001630	splice_region_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42116455_42116456insT		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.368-1->A	7.37:g.42116456_42116456dupT						GLI3_uc011kbg.1_Frame_Shift_Ins_p.H64fs	p.H123fs	NM_000168	NP_000159	P10071	GLI3_HUMAN			4	459_460	-			123					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Frame_Shift_Ins	INS	ENST00000395925.3	37	c.368_369insA	CCDS5465.1																																																																																				0.436	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168	Frame_Shift_Ins	12	45	NaN	NaN	NaN	NaN	NaN	12	45	---	---
