#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_refseq_mrna_id	i_secondary_variant_classification
NOC2L	26155	broad.mit.edu	37	1	887446	887446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:887446G>A	ENST00000327044.6	-	11	1314	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	422					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGGGGCCCGCAGTGCTCAG	0.592																																						uc001abz.3																			0				ovary(1)|skin(1)	2						c.(1264-1266)GCG>GTG		nucleolar complex associated 2 homolog							60.0	58.0	59.0					1																	887446		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:887446G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1265C>T	1.37:g.887446G>A	ENSP00000317992:p.Ala422Val					NOC2L_uc001aby.3_Missense_Mutation_p.A219V|NOC2L_uc009vjq.2_Missense_Mutation_p.A422V	p.A422V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	11	1324	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	422					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1265C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.929497	0.00488	.	.	ENSG00000188976	ENST00000327044	T	0.45668	0.89	4.3	0.501	0.16925	Armadillo-type fold (1);	2.141790	0.02332	N	0.074023	T	0.22244	0.0536	N	0.17379	0.485	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.13845	-1.0494	10	0.02654	T	1	-0.9943	2.9925	0.05988	0.6313:0.1462:0.0821:0.1404	.	422;422;189	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	V	422	ENSP00000317992:A422V	ENSP00000317992:A422V	A	-	2	0	NOC2L	877309	0.124000	0.22315	0.000000	0.03702	0.001000	0.01503	3.803000	0.55560	-0.024000	0.13941	-0.339000	0.08088	GCG		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	
PRDM16	63976	broad.mit.edu	37	1	3328828	3328828	+	Silent	SNP	C	C	T	rs371813954		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:3328828C>T	ENST00000270722.5	+	9	2116	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	PRDM16_ENST00000514189.1_Silent_p.A690A|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Silent_p.A689A|PRDM16_ENST00000378398.3_Silent_p.A690A|PRDM16_ENST00000378391.2_Silent_p.A689A|PRDM16_ENST00000442529.2_Silent_p.A689A|PRDM16_ENST00000511072.1_Silent_p.A690A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	689	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCGCCGCCGGGGACTCCA	0.642			T	EVI1	"""MDS, AML"""																																	uc001akf.2				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2065-2067)GCC>GCT		PR domain containing 16 isoform 1							51.0	62.0	58.0					1																	3328828		2015	4162	6177	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328828C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2067C>T	1.37:g.3328828C>T						PRDM16_uc001akc.2_Silent_p.A689A|PRDM16_uc001akd.2_Silent_p.A689A|PRDM16_uc001ake.2_Silent_p.A689A|PRDM16_uc009vlh.2_Silent_p.A390A	p.A689A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	9	2147	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	689			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2067C>T	CCDS41236.2																																																																																				0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
GPR153	387509	broad.mit.edu	37	1	6314021	6314021	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:6314021G>A	ENST00000377893.2	-	3	802	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCACGCTGCCGCCCACCAGCA	0.692																																						uc001amp.1																			0					0						c.(541-543)GGC>GGT		G protein-coupled receptor 153							32.0	37.0	35.0					1																	6314021		2201	4297	6498	SO:0001819	synonymous_variant	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314021G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.543C>T	1.37:g.6314021G>A							p.G181G	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	803	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	181			Helical; Name=5; (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	ENST00000377893.2	37	c.543C>T	CCDS64.1																																																																																				0.692	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2		
CLCN6	1185	broad.mit.edu	37	1	11893604	11893605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:11893604_11893605insT	ENST00000346436.6	+	14	1333_1334	c.1281_1282insT	c.(1282-1284)tttfs	p.F428fs	CLCN6_ENST00000376487.3_Frame_Shift_Ins_p.F406fs|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Ins_p.F428fs	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	428					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTCC	0.455																																						uc001ate.3																			0					0						c.(1279-1284)ACATTTfs		chloride channel 6 isoform ClC-6a																																				SO:0001589	frameshift_variant	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11893604_11893605insT	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1288dupT	1.37:g.11893611_11893611dupT	ENSP00000234488:p.Phe428fs					CLCN6_uc010oat.1_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.1_Frame_Shift_Ins_p.T405fs	p.T427fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	14	1394_1395	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	427_428					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Frame_Shift_Ins	INS	ENST00000346436.6	37	c.1281_1282insT	CCDS138.1																																																																																				0.455	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286	
DNAJC16	23341	broad.mit.edu	37	1	15870908	15870908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:15870908G>A	ENST00000375847.3	+	5	753	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.V197M|DNAJC16_ENST00000375838.1_Missense_Mutation_p.V197M	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	197	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGAATTGGCGTGGTCCATGC	0.463																																						uc001aws.2																			0				urinary_tract(1)|lung(1)|kidney(1)	3						c.(589-591)GTG>ATG		DnaJ (Hsp40) homolog, subfamily C, member 16							108.0	100.0	103.0					1																	15870908		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15870908G>A	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.589G>A	1.37:g.15870908G>A	ENSP00000365007:p.Val197Met					DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.2_Translation_Start_Site	p.V197M	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	5	709	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	197			Cytoplasmic (Potential).|Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.589G>A	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956238	0.92726	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.03301	3.98;3.98;3.98	6.16	6.16	0.99307	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.16128	0.0388	L	0.55481	1.735	0.39538	D	0.968775	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.00009	-1.2465	10	0.59425	D	0.04	-26.6809	19.4236	0.94732	0.0:0.0:1.0:0.0	.	197;197	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	M	197	ENSP00000365007:V197M;ENSP00000364998:V197M;ENSP00000365009:V197M	ENSP00000364998:V197M	V	+	1	0	DNAJC16	15743495	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	9.238000	0.95380	2.937000	0.99478	0.650000	0.86243	GTG		0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
NUDC	10726	broad.mit.edu	37	1	27268025	27268025	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:27268025C>T	ENST00000321265.5	+	3	360	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	79					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCAGGAGGCCGAGCGGCGGG	0.617																																						uc001bng.1																			0				ovary(1)	1						c.(235-237)GCC>GCT		nuclear distribution gene C homolog							20.0	26.0	24.0					1																	27268025		2201	4299	6500	SO:0001819	synonymous_variant	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27268025C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.237C>T	1.37:g.27268025C>T						NUDC_uc001bnh.1_Silent_p.A136A|NUDC_uc009vsq.1_Silent_p.A53A	p.A79A	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	3	353	+			79			Potential.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Silent	SNP	ENST00000321265.5	37	c.237C>T	CCDS292.1																																																																																				0.617	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2		
EPS15	2060	broad.mit.edu	37	1	51829678	51829678	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:51829678C>T	ENST00000371733.3	-	23	2315	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	EPS15_ENST00000371730.2_Missense_Mutation_p.R606H|EPS15_ENST00000396122.4_Missense_Mutation_p.R417H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	740	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTGGCTGAACGAAAAGGATC	0.388			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(2218-2220)CGT>CAT		epidermal growth factor receptor pathway							158.0	143.0	148.0					1																	51829678		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51829678C>T	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2219G>A	1.37:g.51829678C>T	ENSP00000360798:p.Arg740His					EPS15_uc009vyz.1_Missense_Mutation_p.R606H|EPS15_uc001csp.3_Missense_Mutation_p.R426H	p.R740H	NM_001981	NP_001972	P42566	EPS15_HUMAN			23	2311	-			740			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2219G>A	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322996	0.24080	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.21191	2.02;2.02;2.02	5.95	0.251	0.15540	.	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	0.09310	N	0.999998	D;B;B	0.58620	0.983;0.417;0.084	B;B;B	0.38156	0.266;0.084;0.084	T	0.24225	-1.0166	9	0.41790	T	0.15	.	6.6174	0.22784	0.1178:0.5499:0.0:0.3323	.	606;740;426	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	H	606;740;417	ENSP00000360795:R606H;ENSP00000360798:R740H;ENSP00000379428:R417H	ENSP00000360795:R606H	R	-	2	0	EPS15	51602266	0.993000	0.37304	0.991000	0.47740	0.161000	0.22273	0.274000	0.18680	0.129000	0.18514	-0.140000	0.14226	CGT		0.388	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
LRIF1	55791	broad.mit.edu	37	1	111490908	111490908	+	Silent	SNP	G	G	A	rs375688507		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111490908G>A	ENST00000369763.4	-	4	2373	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	LRIF1_ENST00000494675.1_Silent_p.T125T|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Silent_p.T125T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTGGGAACCGGTGACATTAG	0.368																																						uc001eaa.2																			0					0						c.(1981-1983)ACC>ACT		receptor-interacting factor 1 isoform 1		G	,	2,4404	4.2+/-10.8	0,2,2201	261.0	230.0	240.0		375,1983	1.5	0.0	1		240	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIF1	NM_001006945.1,NM_018372.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	125/234,661/770	111490908	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490908G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1983C>T	1.37:g.111490908G>A						C1orf103_uc001dzz.2_Silent_p.T125T|C1orf103_uc001eab.2_Silent_p.T125T|C1orf103_uc001eac.1_Silent_p.T124T	p.T661T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	4	2239	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	661					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1983C>T	CCDS30800.1																																																																																				0.368	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
DENND2D	79961	broad.mit.edu	37	1	111730833	111730833	+	Missense_Mutation	SNP	C	C	T	rs201272881		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111730833C>T	ENST00000357640.4	-	11	1488	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND2D_ENST00000369752.5_Missense_Mutation_p.R417Q	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	420	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R420Q(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTTCACAAATCGGCGGTTGGT	0.498																																						uc001eak.1																			1	Substitution - Missense(1)		ovary(1)	ovary(1)	1						c.(1258-1260)CGA>CAA		DENN/MADD domain containing 2D							76.0	79.0	78.0					1																	111730833		2203	4300	6503	SO:0001583	missense	79961							g.chr1:111730833C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1259G>A	1.37:g.111730833C>T	ENSP00000350266:p.Arg420Gln					DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	p.R420Q	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1459	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	420			dDENN.		Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1259G>A	CCDS831.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817069	0.70912	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.39997	1.05;1.05	5.76	5.76	0.90799	dDENN (3);	0.180128	0.45606	D	0.000347	T	0.25195	0.0612	L	0.45051	1.395	0.36122	D	0.845546	P;P	0.47545	0.847;0.897	B;B	0.41440	0.243;0.357	T	0.03706	-1.1011	10	0.19590	T	0.45	-8.845	17.8133	0.88623	0.0:1.0:0.0:0.0	.	417;420	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	Q	420;417	ENSP00000350266:R420Q;ENSP00000358767:R417Q	ENSP00000350266:R420Q	R	-	2	0	DENND2D	111532356	0.691000	0.27709	0.995000	0.50966	0.972000	0.66771	1.495000	0.35627	2.882000	0.98803	0.655000	0.94253	CGA		0.498	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	
VANGL1	81839	broad.mit.edu	37	1	116226676	116226676	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:116226676G>A	ENST00000355485.2	+	6	1329	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	VANGL1_ENST00000369510.4_Missense_Mutation_p.R351Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.R353Q|VANGL1_ENST00000369509.1_Missense_Mutation_p.R353Q|VANGL1_ENST00000474344.1_3'UTR	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	353					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATGAACGGCGAGTAAAGAAG	0.438																																						uc001efv.1																			0				central_nervous_system(1)	1						c.(1057-1059)CGA>CAA		vang-like 1							76.0	68.0	71.0					1																	116226676		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116226676G>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1058G>A	1.37:g.116226676G>A	ENSP00000347672:p.Arg353Gln					VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q	p.R353Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1329	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	353			Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1058G>A	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471083	0.84533	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.89904	3.07	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62560	0.845;0.904	D	0.92846	0.6293	10	0.87932	D	0	-0.3978	17.6175	0.88071	0.0:0.0:1.0:0.0	.	351;353	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	353;351;353;353	ENSP00000347672:R353Q;ENSP00000358523:R351Q;ENSP00000310800:R353Q;ENSP00000358522:R353Q	ENSP00000310800:R353Q	R	+	2	0	VANGL1	116028199	1.000000	0.71417	0.999000	0.59377	0.127000	0.20565	9.192000	0.94947	2.366000	0.80165	0.551000	0.68910	CGA		0.438	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
NOTCH2NL	388677	broad.mit.edu	37	1	145273241	145273241	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:145273241A>G	ENST00000369340.3	+	4	539	c.95A>G	c.(94-96)aAc>aGc	p.N32S	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.N32S|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.N32S|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.N32S			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	32	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGAGAAGAACCGCTGCCAG	0.532																																						uc001emn.3																			0				ovary(1)	1						c.(94-96)AAC>AGC		Notch homolog 2 N-terminal like protein							67.0	70.0	69.0					1																	145273241		2202	4278	6480	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273241A>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.95A>G	1.37:g.145273241A>G	ENSP00000358346:p.Asn32Ser					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.N32S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.N32S|NOTCH2NL_uc010oyh.1_RNA	p.N32S	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	465	+			32			EGF-like 2.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.95A>G	CCDS909.1	.	.	.	.	.	.	.	.	.	.	A	6.048	0.377286	0.11466	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.94723	-3.5;-3.5;-3.5	2.75	1.44	0.22558	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81809	0.4901	L	0.31371	0.925	0.21675	N	0.999591	P;P	0.39883	0.644;0.693	B;B	0.43838	0.287;0.433	T	0.74717	-0.3571	9	0.09843	T	0.71	.	6.3598	0.21422	0.5668:0.4332:0.0:0.0	.	32;32	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	S	32	ENSP00000354929:N32S;ENSP00000344557:N32S;ENSP00000358346:N32S	ENSP00000344557:N32S	N	+	2	0	NOTCH2NL	143984598	0.445000	0.25657	1.000000	0.80357	0.983000	0.72400	0.976000	0.29462	1.256000	0.44068	0.324000	0.21423	AAC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458	
CHD1L	9557	broad.mit.edu	37	1	146766154	146766154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:146766154G>A	ENST00000369258.4	+	22	2590	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.R576Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.R763Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.R653Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	857	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGTACTGAGCGACTTATTCGG	0.423																																						uc001epm.3																			0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(2569-2571)CGA>CAA		chromodomain helicase DNA binding protein							277.0	239.0	252.0					1																	146766154		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146766154G>A	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2570G>A	1.37:g.146766154G>A	ENSP00000358262:p.Arg857Gln					uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.R744Q|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.R763Q|CHD1L_uc010ozp.1_Missense_Mutation_p.R576Q|CHD1L_uc001epo.3_Missense_Mutation_p.R653Q|CHD1L_uc009wji.2_Missense_Mutation_p.R576Q	p.R857Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			22	2633	+	all_hematologic(923;0.0487)		857			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2570G>A	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	35	5.422622	0.96111	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.7	5.7	0.88788	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	L	0.48642	1.525	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.989;0.999;0.983	T	0.51787	-0.8661	10	0.72032	D	0.01	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	763;653;857	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	Q	763;653;857;576	ENSP00000389031:R763Q;ENSP00000358263:R653Q;ENSP00000358262:R857Q;ENSP00000355100:R576Q	ENSP00000355100:R576Q	R	+	2	0	CHD1L	145232778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.599000	0.90856	2.696000	0.92011	0.655000	0.94253	CGA		0.423	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
INSRR	3645	broad.mit.edu	37	1	156823811	156823811	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:156823811G>A	ENST00000368195.3	-	2	766	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	124					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACGTCACGCAGATGTGGC	0.622																																						uc010pht.1																			0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(370-372)CGT>TGT		insulin receptor-related receptor precursor							54.0	49.0	51.0					1																	156823811		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823811G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.370C>T	1.37:g.156823811G>A	ENSP00000357178:p.Arg124Cys					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R124C	p.R124C	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	624	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		124					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.370C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470830	0.43942	.	.	ENSG00000027644	ENST00000368195	T	0.80566	-1.39	5.06	2.92	0.33932	EGF receptor, L domain (1);	0.000000	0.44902	D	0.000413	D	0.86008	0.5830	.	.	.	0.49389	D	0.999787	D	0.89917	1.0	D	0.87578	0.998	D	0.87745	0.2588	9	0.87932	D	0	.	11.756	0.51875	0.0:0.0:0.5928:0.4072	.	124	P14616	INSRR_HUMAN	C	124	ENSP00000357178:R124C	ENSP00000357178:R124C	R	-	1	0	INSRR	155090435	0.996000	0.38824	0.952000	0.39060	0.187000	0.23431	1.724000	0.38064	1.114000	0.41781	0.557000	0.71058	CGT		0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
CD84	8832	broad.mit.edu	37	1	160535290	160535290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:160535290C>T	ENST00000311224.4	-	2	358	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CD84_ENST00000368054.3_Missense_Mutation_p.D98N|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.D98N|CD84_ENST00000368048.3_Missense_Mutation_p.D98N|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	98	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCTCAGATCGCTAATGACC	0.463																																						uc001fwh.3																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(292-294)GAT>AAT		CD84 molecule							334.0	269.0	291.0					1																	160535290		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160535290C>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.292G>A	1.37:g.160535290C>T	ENSP00000312367:p.Asp98Asn					CD84_uc001fwf.3_Missense_Mutation_p.D98N|CD84_uc001fwg.3_Missense_Mutation_p.D98N|CD84_uc009wtn.2_Missense_Mutation_p.D98N|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.D98N|CD84_uc001fwk.2_Missense_Mutation_p.D98N	p.D98N	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	316	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		98			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.292G>A	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186176	0.01620	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.11	-1.27	0.09347	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.927542	0.09238	N	0.829606	T	0.00845	0.0028	N	0.00382	-1.575	0.09310	N	1	B;B;B;B;B;B	0.12630	0.006;0.006;0.005;0.003;0.005;0.005	B;B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002;0.002	T	0.47674	-0.9099	10	0.02654	T	1	-0.9915	4.6458	0.12572	0.0:0.1657:0.3422:0.4922	.	98;98;98;98;98;98	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	N	98	ENSP00000357033:D98N;ENSP00000357027:D98N;ENSP00000312367:D98N;ENSP00000357030:D98N;ENSP00000353163:D98N;ENSP00000357026:D98N	ENSP00000312367:D98N	D	-	1	0	CD84	158801914	0.000000	0.05858	0.004000	0.12327	0.474000	0.32979	-1.013000	0.03645	-0.012000	0.14223	-0.218000	0.12543	GAT		0.463	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
BLZF1	8548	broad.mit.edu	37	1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:169347745C>T	ENST00000367808.3	+	4	1069	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_ENST00000329281.2_Nonsense_Mutation_p.R216*			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	216					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.R216*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363																																						uc001gfx.1																			2	Substitution - Nonsense(2)		large_intestine(1)|endometrium(1)	skin(1)	1						c.(646-648)CGA>TGA		basic leucine zipper nuclear factor 1							95.0	97.0	97.0					1																	169347745		2203	4300	6503	SO:0001587	stop_gained	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169347745C>T	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.646C>T	1.37:g.169347745C>T	ENSP00000356782:p.Arg216*					BLZF1_uc001gfy.2_Nonsense_Mutation_p.R216*|BLZF1_uc009wvp.1_Nonsense_Mutation_p.R193*	p.R216*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN			4	1083	+	all_hematologic(923;0.208)		216					O15298|Q5T531|Q5T533|Q9GZX4	Nonsense_Mutation	SNP	ENST00000367808.3	37	c.646C>T	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062399	0.97246	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	.	.	.	6.17	4.25	0.50352	.	0.055634	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7065	15.4433	0.75204	0.3705:0.6295:0.0:0.0	.	.	.	.	X	216	.	ENSP00000327541:R216X	R	+	1	2	BLZF1	167614369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.079000	0.50104	0.864000	0.35578	0.655000	0.94253	CGA		0.363	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666	
CENPF	1063	broad.mit.edu	37	1	214837072	214837072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:214837072C>T	ENST00000366955.3	+	20	9448	c.9280C>T	c.(9280-9282)Cga>Tga	p.R3094*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3190	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGCGAGGCCGACTTGTCCC	0.582																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(9280-9282)CGA>TGA		centromere protein F							47.0	43.0	44.0					1																	214837072		2203	4300	6503	SO:0001587	stop_gained	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214837072C>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.9280C>T	1.37:g.214837072C>T	ENSP00000355922:p.Arg3094*						p.R3094*	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)	20	9454	+			3190					Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	c.9280C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	49	15.396146	0.99832	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.2	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.6188	0.08087	0.2739:0.5584:0.0:0.1677	.	.	.	.	X	3094	.	ENSP00000355922:R3094X	R	+	1	2	CENPF	212903695	0.000000	0.05858	0.022000	0.16811	0.264000	0.26372	0.605000	0.24179	0.983000	0.38602	0.563000	0.77884	CGA		0.582	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
GNPAT	8443	broad.mit.edu	37	1	231401503	231401503	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:231401503C>T	ENST00000366647.4	+	6	911	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GNPAT_ENST00000366646.3_Missense_Mutation_p.R187C	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	248					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GACAAGAAGCCGCTCTGCCAA	0.378																																						uc001hup.3																			0				ovary(3)|breast(1)	4						c.(742-744)CGC>TGC		glyceronephosphate O-acyltransferase							66.0	68.0	67.0					1																	231401503		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401503C>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.742C>T	1.37:g.231401503C>T	ENSP00000355607:p.Arg248Cys					GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.2_Missense_Mutation_p.R187C	p.R248C	NM_014236	NP_055051	O15228	GNPAT_HUMAN			6	948	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	248					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.742C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302845	0.81136	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.31	5.31	0.75309	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99000	1.0811	10	0.87932	D	0	.	14.2145	0.65783	0.1494:0.8506:0.0:0.0	.	187;248	B4DNM9;O15228	.;GNPAT_HUMAN	C	187;248;187;238	ENSP00000402811:R187C;ENSP00000355607:R248C;ENSP00000355606:R187C;ENSP00000411640:R238C	ENSP00000355606:R187C	R	+	1	0	GNPAT	229468126	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.307000	0.51888	2.643000	0.89663	0.467000	0.42956	CGC		0.378	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
RYR2	6262	broad.mit.edu	37	1	237729890	237729890	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:237729890G>A	ENST00000366574.2	+	28	3555	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1078S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1064S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1080	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGTGCAGCGGCACCGGGGA	0.502																																						uc001hyl.1																			0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3238-3240)GGC>AGC		cardiac muscle ryanodine receptor							52.0	53.0	53.0					1																	237729890		1903	4129	6032	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729890G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3238G>A	1.37:g.237729890G>A	ENSP00000355533:p.Gly1080Ser						p.G1080S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3358	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1080			Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3238G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701651	0.15172	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96200	-3.94;-3.91;-3.93	5.29	3.43	0.39272	B30.2/SPRY domain (1);	0.188809	0.34338	N	0.004051	T	0.79221	0.4409	N	0.00260	-1.75	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.72391	-0.4308	10	0.08381	T	0.77	.	11.1149	0.48254	0.1481:0.0:0.8519:0.0	.	1080	Q92736	RYR2_HUMAN	S	1080;1078;1064	ENSP00000355533:G1080S;ENSP00000353174:G1078S;ENSP00000443798:G1064S	ENSP00000353174:G1078S	G	+	1	0	RYR2	235796513	0.893000	0.30496	0.741000	0.31004	0.602000	0.36980	1.522000	0.35921	0.618000	0.30179	0.655000	0.94253	GGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
WDR64	128025	broad.mit.edu	37	1	241946599	241946599	+	Missense_Mutation	SNP	G	G	A	rs141496101	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:241946599G>A	ENST00000366552.2	+	22	2798	c.2591G>A	c.(2590-2592)cGt>cAt	p.R864H	WDR64_ENST00000437684.2_Missense_Mutation_p.R697H	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTCCTGGCGTGCTCATTCT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20149	0.002		0.0	False		,,,				2504	0.0					uc001hzf.1																			0				skin(1)	1						c.(1249-1251)CGT>CAT		WD repeat domain 64		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	71.0	67.0	69.0		2591	5.7	1.0	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense	WDR64	NM_144625.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	864/1082	241946599	2,13004	2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946599G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2591G>A	1.37:g.241946599G>A	ENSP00000355510:p.Arg864His					WDR64_uc001hzg.1_Missense_Mutation_p.R330H	p.R417H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		12	1403	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	864					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1250G>A		3|3	0.0013736263736263737|0.0013736263736263737	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	G|G	18.37|18.37	3.609944|3.609944	0.66558|0.66558	4.54E-4|4.54E-4	0.0|0.0	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.50001|.	0.76;0.91;0.76|.	5.66|5.66	5.66|5.66	0.87406|0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.102421|.	0.43416|.	D|.	0.000562|.	T|T	0.67757|0.67757	0.2927|0.2927	M|M	0.76002|0.76002	2.32|2.32	0.30061|0.30061	N|N	0.810874|0.810874	D;P|.	0.89917|.	1.0;0.469|.	D;B|.	0.81914|.	0.995;0.029|.	T|T	0.67162|0.67162	-0.5740|-0.5740	10|5	0.42905|.	T|.	0.14|.	-6.1842|-6.1842	16.6706|16.6706	0.85266|0.85266	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	864;417|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	H|M	864;697;468|343	ENSP00000355510:R864H;ENSP00000402446:R697H;ENSP00000406656:R468H|.	ENSP00000355510:R864H|.	R|V	+|+	2|1	0|0	WDR64|WDR64	240013222|240013222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.891000|3.891000	0.56227|0.56227	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.373	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
MYO3A	53904	broad.mit.edu	37	10	26243811	26243811	+	Silent	SNP	C	C	T	rs139958275	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:26243811C>T	ENST00000265944.5	+	4	343	c.177C>T	c.(175-177)gaC>gaT	p.D59D	MYO3A_ENST00000376302.1_Silent_p.D59D|MYO3A_ENST00000376301.1_Silent_p.D59D|MYO3A_ENST00000543632.1_Silent_p.D59D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATATTGACGAAGAGATTG	0.313													c|||	4	0.000798722	0.0	0.0014	5008	,	,		18816	0.0		0.001	False		,,,				2504	0.002					uc001isn.2																			0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(175-177)GAC>GAT		myosin IIIA		T		0,4406		0,0,2203	98.0	102.0	101.0		177	1.0	1.0	10	dbSNP_134	101	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous	MYO3A	NM_017433.4		0,17,6486	TT,TC,CC		0.1977,0.0,0.1307		59/1617	26243811	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26243811C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.177C>T	10.37:g.26243811C>T						MYO3A_uc009xko.1_Silent_p.D59D|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.D59D|MYO3A_uc001ism.2_Silent_p.D59D	p.D59D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			4	537	+			59			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.177C>T	CCDS7148.1																																																																																				0.313	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
HNRNPH3	3189	broad.mit.edu	37	10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:70097039C>T	ENST00000265866.7	+	2	226	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.R21C|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.R21C	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338																																						uc001jnw.3																			0				ovary(2)	2						c.(61-63)CGT>TGT		heterogeneous nuclear ribonucleoprotein H3							199.0	182.0	188.0					10																	70097039		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70097039C>T		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.61C>T	10.37:g.70097039C>T	ENSP00000265866:p.Arg21Cys					HNRNPH3_uc001jnx.3_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.3_5'Flank	p.R21C	NM_012207	NP_036339	P31942	HNRH3_HUMAN			2	290	+			21			RRM 1.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.61C>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944364	0.34283	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.34472	2.91;1.36;2.91	5.88	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.89968	3.075	0.47659	D	0.999481	B;B;B	0.18013	0.003;0.025;0.018	B;B;B	0.15052	0.002;0.007;0.012	T	0.54873	-0.8228	10	0.87932	D	0	.	14.8684	0.70434	0.0:0.9312:0.0:0.0688	.	21;21;21	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	C	21	ENSP00000265866:R21C;ENSP00000409869:R21C;ENSP00000346726:R21C	ENSP00000265866:R21C	R	+	1	0	HNRNPH3	69767045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.267000	0.51577	1.494000	0.48533	0.585000	0.79938	CGT		0.338	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1		
RGR	5995	broad.mit.edu	37	10	86008738	86008738	+	Missense_Mutation	SNP	G	G	A	rs373030585		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:86008738G>A	ENST00000372092.3	+	3	264	c.259G>A	c.(259-261)Gtt>Att	p.V87I	RGR_ENST00000358110.5_Silent_p.A99A|RGR_ENST00000359452.4_Silent_p.A103A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A103A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637																																					NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1																			1	Substitution - coding silent(1)	p.A103A(1)	ovary(1)	ovary(1)	1						c.(295-297)GCG>GCA		retinal G-protein coupled receptor isoform 2		G	,,	2,4404	4.2+/-10.8	0,2,2201	65.0	59.0	61.0		297,297,309	-8.4	0.0	10		61	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	RGR	NM_001012720.1,NM_001012722.1,NM_002921.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	99/292,99/254,103/296	86008738	2,13004	2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86008738G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.259G>A	10.37:g.86008738G>A	ENSP00000361164:p.Val87Ile					RGR_uc001kdb.1_Missense_Mutation_p.V87I|RGR_uc001kdd.1_Silent_p.A103A|RGR_uc001kde.1_Silent_p.A99A	p.A99A	NM_001012720	NP_001012738	P47804	RGR_HUMAN			3	335	+			99			Helical; Name=3; (Potential).		A6NKK7|Q96FC5	Silent	SNP	ENST00000372092.3	37	c.297G>A		.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443074	0.04604	4.54E-4	0.0	ENSG00000148604	ENST00000372092	.	.	.	4.22	-8.44	0.00950	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.19300	N	0.99998	B	0.18166	0.026	B	0.06405	0.002	T	0.27054	-1.0085	7	0.87932	D	0	.	5.9322	0.19144	0.5623:0.0703:0.0746:0.2928	.	87	Q96HT6	.	I	87	.	ENSP00000361164:V87I	V	+	1	0	RGR	85998718	0.000000	0.05858	0.000000	0.03702	0.353000	0.29299	-6.174000	0.00077	-3.672000	0.00123	-0.895000	0.02911	GTT		0.637	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)CGA>TGA		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PLCE1	51196	broad.mit.edu	37	10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:95995711C>T	ENST00000371380.3	+	6	2489	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.R752*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.R444*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.R444*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	752	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCTTACAACGAGTGGGACA	0.408																																						uc001kjk.2																			0				ovary(2)|skin(1)	3						c.(2254-2256)CGA>TGA		phospholipase C, epsilon 1 isoform 1							100.0	96.0	97.0					10																	95995711		1853	4110	5963	SO:0001587	stop_gained	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95995711C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2254C>T	10.37:g.95995711C>T	ENSP00000360431:p.Arg752*					PLCE1_uc010qnx.1_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.R444*	p.R752*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			7	2888	+		Colorectal(252;0.0458)	752			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.2254C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	46	12.416272	0.99665	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	.	.	.	X	752;752;444;444	.	ENSP00000260766:R752X	R	+	1	2	PLCE1	95985701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.350000	0.52224	2.521000	0.84997	0.655000	0.94253	CGA		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
SORCS1	114815	broad.mit.edu	37	10	108923845	108923845	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:108923845G>T	ENST00000263054.6	-	1	447	c.440C>A	c.(439-441)cCg>cAg	p.P147Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.P147Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	147					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGCTTTGTCCGGGTCCCGCTC	0.652																																						uc001kym.2																			0				breast(1)|central_nervous_system(1)	2						c.(439-441)CCG>CAG		SORCS receptor 1 isoform a							48.0	48.0	48.0					10																	108923845		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923845G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.440C>A	10.37:g.108923845G>T	ENSP00000263054:p.Pro147Gln					SORCS1_uc001kyl.2_Missense_Mutation_p.P147Q|SORCS1_uc009xxs.2_Missense_Mutation_p.P147Q|SORCS1_uc001kyn.1_Missense_Mutation_p.P147Q|SORCS1_uc001kyo.2_Missense_Mutation_p.P147Q	p.P147Q	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	448	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	147			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.440C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857474	0.32791	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.13196	2.61;2.62	3.95	3.05	0.35203	.	0.440700	0.21322	N	0.076447	T	0.06280	0.0162	N	0.08118	0	0.29485	N	0.856059	B;B;B;B;B	0.30709	0.085;0.291;0.291;0.192;0.138	B;B;B;B;B	0.28849	0.03;0.095;0.095;0.044;0.066	T	0.28267	-1.0049	9	.	.	.	-7.995	9.4059	0.38462	0.1036:0.0:0.8964:0.0	.	147;147;147;147;147	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Q	147	ENSP00000263054:P147Q;ENSP00000345964:P147Q	.	P	-	2	0	SORCS1	108913835	0.827000	0.29292	1.000000	0.80357	0.997000	0.91878	0.275000	0.18698	1.244000	0.43870	0.655000	0.94253	CCG		0.652	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SEC23IP	11196	broad.mit.edu	37	10	121663608	121663608	+	Missense_Mutation	SNP	C	C	T	rs147722288		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:121663608C>T	ENST00000369075.3	+	4	992	c.920C>T	c.(919-921)cCg>cTg	p.P307L	SEC23IP_ENST00000543134.1_Missense_Mutation_p.P96L	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	307	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGCCAGATCCGGAGAGCGTG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19985	0.0		0.001	False		,,,				2504	0.0					uc001leu.1																			0				ovary(3)	3						c.(919-921)CCG>CTG		Sec23-interacting protein p125		C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	100.0	93.0	95.0		920	5.3	1.0	10	dbSNP_134	95	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEC23IP	NM_007190.3	98	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging	307/1001	121663608	7,12999	2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121663608C>T	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.920C>T	10.37:g.121663608C>T	ENSP00000358071:p.Pro307Leu					SEC23IP_uc010qtc.1_Missense_Mutation_p.P96L	p.P307L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	4	992	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	307			Interaction with SEC23A.		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.920C>T	CCDS7618.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.95	2.984394	0.53934	4.54E-4	5.81E-4	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.44482	1.34;1.42;0.92	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.72479	2.2	0.80722	D	1	B;B	0.32893	0.389;0.134	B;B	0.24974	0.057;0.016	T	0.44034	-0.9354	10	0.41790	T	0.15	-17.496	19.3947	0.94603	0.0:1.0:0.0:0.0	.	96;307	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	L	307;96;41	ENSP00000358071:P307L;ENSP00000438773:P96L;ENSP00000396906:P41L	ENSP00000358071:P307L	P	+	2	0	SEC23IP	121653598	1.000000	0.71417	0.959000	0.39883	0.896000	0.52359	7.285000	0.78660	2.644000	0.89710	0.563000	0.77884	CCG		0.488	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
CPXM2	119587	broad.mit.edu	37	10	125506288	125506288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125506288G>A	ENST00000241305.3	-	14	2417	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	755					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTCACCCACGCTGTCGTCTC	0.577																																						uc001lhk.1																			0				ovary(2)	2						c.(2263-2265)CGT>TGT		carboxypeptidase X (M14 family), member 2							49.0	53.0	52.0					10																	125506288		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506288G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2263C>T	10.37:g.125506288G>A	ENSP00000241305:p.Arg755Cys					CPXM2_uc001lhj.2_Intron	p.R755C	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2588	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	755					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2263C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338264	0.60963	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96587	-4.06	5.32	4.4	0.53042	.	1.063870	0.07384	N	0.887999	D	0.96074	0.8721	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.50754	0.649	D	0.92788	0.6246	10	0.87932	D	0	-26.1143	12.039	0.53442	0.0802:0.0:0.9198:0.0	.	755	Q8N436	CPXM2_HUMAN	C	755;588;730	ENSP00000241305:R755C	ENSP00000241305:R755C	R	-	1	0	CPXM2	125496278	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	4.078000	0.57606	2.643000	0.89663	0.655000	0.94253	CGT		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CPXM2	119587	broad.mit.edu	37	10	125622179	125622179	+	Missense_Mutation	SNP	G	G	A	rs146535848	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125622179G>A	ENST00000241305.3	-	3	618	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	155	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGCTTCACCGTGGAGGCATG	0.507													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					uc001lhk.1																			0				ovary(2)	2						c.(463-465)ACG>ATG		carboxypeptidase X (M14 family), member 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	87.0	93.0		464	5.6	0.9	10	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CPXM2	NM_198148.2	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	155/757	125622179	3,13003	2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125622179G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.464C>T	10.37:g.125622179G>A	ENSP00000241305:p.Thr155Met					CPXM2_uc001lhj.2_RNA	p.T155M	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	3	789	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	155			F5/8 type C.		B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.464C>T	CCDS7637.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	24.3	4.512326	0.85389	2.27E-4	2.33E-4	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.97529	-4.42	5.56	5.56	0.83823	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.056982	0.64402	D	0.000002	D	0.98541	0.9513	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99568	1.0970	10	0.87932	D	0	-7.8883	18.309	0.90192	0.0:0.0:1.0:0.0	.	155	Q8N436	CPXM2_HUMAN	M	155	ENSP00000241305:T155M	ENSP00000241305:T155M	T	-	2	0	CPXM2	125612169	1.000000	0.71417	0.936000	0.37596	0.989000	0.77384	6.723000	0.74742	2.620000	0.88729	0.655000	0.94253	ACG		0.507	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
MRGPRE	116534	broad.mit.edu	37	11	3249728	3249728	+	Missense_Mutation	SNP	G	G	A	rs372934659		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:3249728G>A	ENST00000389832.5	-	2	608	c.302C>T	c.(301-303)aCg>aTg	p.T101M	MRGPRE_ENST00000436689.2_Missense_Mutation_p.T100M|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T100M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662																																						uc001lxq.3																			1	Substitution - Missense(1)		prostate(1)	large_intestine(1)|ovary(1)	2						c.(298-300)ACG>ATG		MAS-related GPR, member E		G	MET/THR	2,4364		0,2,2181	39.0	50.0	46.0		299	1.5	0.0	11		46	0,8552		0,0,4276	no	missense	MRGPRE	NM_001039165.2	81	0,2,6457	AA,AG,GG		0.0,0.0458,0.0155	benign	100/312	3249728	2,12916	2183	4276	6459	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249728G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.302C>T	11.37:g.3249728G>A	ENSP00000374482:p.Thr101Met						p.T100M	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	609	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	100			Extracellular (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	g	9.712	1.157292	0.21454	4.58E-4	0.0	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.62	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	1.254590	0.05970	N	0.642291	T	0.10852	0.0265	N	0.01188	-0.97	0.09310	N	1	B	0.31209	0.313	B	0.28916	0.096	T	0.20371	-1.0277	9	0.30078	T	0.28	-3.6331	5.2432	0.15483	0.1218:0.0:0.6779:0.2003	.	100	Q86SM8	MRGRE_HUMAN	M	101;100	.	ENSP00000374482:T100M	T	-	2	0	MRGPRE	3206304	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.468000	0.22051	0.675000	0.31264	0.585000	0.79938	ACG		0.662	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
SOX6	55553	broad.mit.edu	37	11	16036504	16036504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16036504C>T	ENST00000352083.6	-	13	1793	c.1716G>A	c.(1714-1716)cgG>cgA	p.R572R	SOX6_ENST00000527619.1_Silent_p.R548R|SOX6_ENST00000316399.6_Silent_p.R572R|SOX6_ENST00000528252.1_Silent_p.R545R|SOX6_ENST00000396356.3_Silent_p.R572R|SOX6_ENST00000528429.1_Silent_p.R572R			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	572					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATCTTCTGGCCGAGTAAGGT	0.463																																						uc001mme.2																			0				ovary(3)	3						c.(1753-1755)CGG>CGA		SRY (sex determining region Y)-box 6 isoform 4							84.0	81.0	82.0					11																	16036504		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16036504C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1716G>A	11.37:g.16036504C>T						SOX6_uc001mmd.2_Silent_p.R548R|SOX6_uc001mmf.2_Silent_p.R545R|SOX6_uc001mmg.2_Silent_p.R572R	p.R585R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			13	1788	-			572					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1755G>A																																																																																					0.463	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
PLEKHA7	144100	broad.mit.edu	37	11	16847767	16847767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16847767C>T	ENST00000355661.3	-	10	1253	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.A415T|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.A415T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	415					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGAGGAAAGGCCCGCTGGTAC	0.592																																						uc001mmo.2																			0				skin(2)|central_nervous_system(1)	3						c.(1243-1245)GCC>ACC		pleckstrin homology domain containing, family A							132.0	136.0	135.0					11																	16847767		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16847767C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1243G>A	11.37:g.16847767C>T	ENSP00000347883:p.Ala415Thr					PLEKHA7_uc010rcu.1_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.2_Missense_Mutation_p.A123T	p.A415T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			10	1258	-			415					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1243G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773900	0.31411	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06687	3.27;3.27;3.27	5.25	1.32	0.21799	.	0.447853	0.27100	N	0.020927	T	0.02156	0.0067	N	0.01352	-0.895	0.25434	N	0.988153	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.001;0.003	T	0.47368	-0.9123	10	0.05436	T	0.98	-5.5629	9.262	0.37619	0.0:0.7065:0.0:0.2935	.	415;415;415	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	T	415	ENSP00000435389:A415T;ENSP00000347883:A415T;ENSP00000416895:A415T	ENSP00000347883:A415T	A	-	1	0	PLEKHA7	16804343	0.927000	0.31430	0.988000	0.46212	0.980000	0.70556	1.085000	0.30840	0.090000	0.17273	-0.258000	0.10820	GCC		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
NELL1	4745	broad.mit.edu	37	11	20959373	20959373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:20959373C>T	ENST00000357134.5	+	10	1191	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	NELL1_ENST00000298925.5_Missense_Mutation_p.R375W|NELL1_ENST00000325319.5_Missense_Mutation_p.R290W|NELL1_ENST00000532434.1_Missense_Mutation_p.R347W	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	347					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGGCCAGCGGATTTTAAC	0.408																																						uc001mqe.2																			0				ovary(2)|large_intestine(1)	3						c.(1039-1041)CGG>TGG		nel-like 1 isoform 1 precursor							108.0	105.0	106.0					11																	20959373		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20959373C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1039C>T	11.37:g.20959373C>T	ENSP00000349654:p.Arg347Trp					NELL1_uc001mqf.2_Missense_Mutation_p.R347W|NELL1_uc009yid.2_Missense_Mutation_p.R375W|NELL1_uc010rdo.1_Missense_Mutation_p.R290W|NELL1_uc010rdp.1_Missense_Mutation_p.R107W	p.R347W	NM_006157	NP_006148	Q92832	NELL1_HUMAN			10	1192	+			347			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1039C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523294	0.64747	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.18	0.754	0.18410	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.73962	2.25	0.46609	D	0.999125	D;D;B;D	0.89917	0.997;1.0;0.127;1.0	P;D;B;D	0.79784	0.897;0.988;0.049;0.993	T	0.78122	-0.2327	10	0.37606	T	0.19	-14.675	15.272	0.73708	0.6213:0.3787:0.0:0.0	.	290;375;347;347	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	W	375;347;290;347	ENSP00000298925:R375W;ENSP00000349654:R347W;ENSP00000317837:R290W;ENSP00000437170:R347W	ENSP00000298925:R375W	R	+	1	2	NELL1	20915949	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	0.262000	0.18460	0.162000	0.19483	-0.314000	0.08810	CGG		0.408	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
GYLTL1B	120071	broad.mit.edu	37	11	45950278	45950278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:45950278G>A	ENST00000531526.1	+	14	2159	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R652H|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R683H|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R683H|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R652H	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	683					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCACCTATCGTGACTGCCTC	0.637																																						uc001nbv.1																			0				ovary(2)|central_nervous_system(1)	3						c.(2047-2049)CGT>CAT		glycosyltransferase-like 1B							84.0	75.0	78.0					11																	45950278		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950278G>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2048G>A	11.37:g.45950278G>A	ENSP00000432869:p.Arg683His					GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H|GYLTL1B_uc001nby.1_Missense_Mutation_p.R366H|GYLTL1B_uc001nbz.1_Missense_Mutation_p.V32M	p.R683H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2159	+			683			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2048G>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469079	0.96274	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.53206	0.64;0.63;0.63;0.63;0.64	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.98	D;D;P	0.91635	0.999;0.931;0.679	T	0.78964	-0.1996	10	0.87932	D	0	-14.6208	19.6939	0.96016	0.0:0.0:1.0:0.0	.	652;652;683	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	H	652;683;683;683;652	ENSP00000431932:R652H;ENSP00000432869:R683H;ENSP00000385235:R683H;ENSP00000324570:R683H;ENSP00000445044:R652H	ENSP00000324570:R683H	R	+	2	0	GYLTL1B	45906854	1.000000	0.71417	0.581000	0.28614	0.974000	0.67602	9.466000	0.97665	2.643000	0.89663	0.655000	0.94253	CGT		0.637	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
CHRM4	1132	broad.mit.edu	37	11	46406690	46406690	+	Missense_Mutation	SNP	C	C	T	rs201159443		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:46406690C>T	ENST00000433765.2	-	1	1417	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	473					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCGATGTTCCGATACTGGCA	0.602													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22413	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			0					0						c.(1417-1419)CGG>CAG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						70.0	75.0	73.0					11																	46406690		2201	4299	6500	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46406690C>T	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1418G>A	11.37:g.46406690C>T	ENSP00000409378:p.Arg473Gln						p.R473Q	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	1418	-			473			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.1418G>A	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.863033	0.51482	.	.	ENSG00000180720	ENST00000433765	T	0.37584	1.19	4.58	3.65	0.41850	.	.	.	.	.	T	0.21186	0.0510	L	0.31371	0.925	0.31336	N	0.684244	P	0.36944	0.574	B	0.23018	0.043	T	0.20840	-1.0263	9	0.59425	D	0.04	-0.2104	7.7459	0.28869	0.1634:0.7548:0.0:0.0818	.	473	P08173	ACM4_HUMAN	Q	473	ENSP00000409378:R473Q	ENSP00000409378:R473Q	R	-	2	0	CHRM4	46363266	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	2.201000	0.42734	1.136000	0.42199	0.457000	0.33378	CGG		0.602	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741	
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Silent	SNP	C	C	A	rs377490584	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:57137380C>A	ENST00000263314.2	+	12	1138	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	368					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547																																						uc001nju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)ATC>ATA		purinergic receptor P2X3							109.0	90.0	96.0					11																	57137380		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57137380C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.1104C>A	11.37:g.57137380C>A							p.I368I	NM_002559	NP_002550	P56373	P2RX3_HUMAN			12	1180	+			368			Cytoplasmic (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.1104C>A	CCDS7953.1																																																																																				0.547	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	
RASGRP2	10235	broad.mit.edu	37	11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:64496457C>T	ENST00000354024.3	-	15	1901	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	RASGRP2_ENST00000394432.3_Missense_Mutation_p.R550H|RASGRP2_ENST00000377494.1_Missense_Mutation_p.R550H|RASGRP2_ENST00000377497.3_Missense_Mutation_p.R550H	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	550					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCTGCGCCGACACTC	0.637																																						uc009ypu.2																			0					0						c.(1648-1650)CGC>CAC		RAS guanyl releasing protein 2							67.0	50.0	56.0					11																	64496457		2201	4297	6498	SO:0001583	missense	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64496457C>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1649G>A	11.37:g.64496457C>T	ENSP00000338864:p.Arg550His					RASGRP2_uc001oat.2_Missense_Mutation_p.R452H|RASGRP2_uc001oau.2_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R550H	p.R550H	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			15	1876	-			550					A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	c.1649G>A	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634750	0.67130	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	4.17	4.17	0.49024	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.086607	0.47455	D	0.000239	D	0.92538	0.7630	L	0.46819	1.47	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.62491	0.903;0.903	D	0.92270	0.5824	10	0.87932	D	0	-0.258	8.5795	0.33619	0.0:0.8914:0.0:0.1086	.	550;550	Q7LDG7;A6NDC7	GRP2_HUMAN;.	H	550	ENSP00000366714:R550H;ENSP00000377953:R550H;ENSP00000366717:R550H;ENSP00000338864:R550H	ENSP00000338864:R550H	R	-	2	0	RASGRP2	64253033	0.998000	0.40836	1.000000	0.80357	0.560000	0.35617	2.662000	0.46766	2.260000	0.74910	0.655000	0.94253	CGC		0.637	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
INPPL1	3636	broad.mit.edu	37	11	71942122	71942123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71942122_71942123insC	ENST00000298229.2	+	12	1590_1591	c.1386_1387insC	c.(1387-1389)cccfs	p.P463fs	INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.P221fs|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.P221fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	463					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACCATACCCCATGACAT	0.579																																						uc001osf.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(1384-1389)ATACCCfs		inositol polyphosphate phosphatase-like 1																																				SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71942122_71942123insC	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1390dupC	11.37:g.71942126_71942126dupC	ENSP00000298229:p.Pro463fs					INPPL1_uc001osg.2_Frame_Shift_Ins_p.I220fs	p.I462fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN			12	1533_1534	+			462_463					B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	ENST00000298229.2	37	c.1386_1387insC	CCDS8213.1																																																																																				0.579	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
INPPL1	3636	broad.mit.edu	37	11	71943788	71943788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71943788C>T	ENST00000298229.2	+	15	2035	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	INPPL1_ENST00000538751.1_Missense_Mutation_p.R369C|INPPL1_ENST00000541756.1_Missense_Mutation_p.R369C	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	611					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCAACTACCGCCTGGACAT	0.612																																						uc001osf.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(1831-1833)CGC>TGC		inositol polyphosphate phosphatase-like 1							81.0	79.0	80.0					11																	71943788		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943788C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1831C>T	11.37:g.71943788C>T	ENSP00000298229:p.Arg611Cys					INPPL1_uc001osg.2_Missense_Mutation_p.R369C	p.R611C	NM_001567	NP_001558	O15357	SHIP2_HUMAN			15	1978	+			611					B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.1831C>T	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.168309	0.78339	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.96774	-4.12;-4.12;-4.12	5.42	5.42	0.78866	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98850	1.0758	10	0.87932	D	0	.	17.0485	0.86511	0.0:1.0:0.0:0.0	.	611	O15357	SHIP2_HUMAN	C	611;369;369	ENSP00000298229:R611C;ENSP00000446360:R369C;ENSP00000444619:R369C	ENSP00000298229:R611C	R	+	1	0	INPPL1	71621436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.590000	0.46154	2.703000	0.92315	0.561000	0.74099	CGC		0.612	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567	
ATG16L2	89849	broad.mit.edu	37	11	72528883	72528883	+	Missense_Mutation	SNP	C	C	T	rs532590002		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:72528883C>T	ENST00000321297.5	+	3	439	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ATG16L2_ENST00000534905.1_Missense_Mutation_p.R101W	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	101					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGAGGGGCTCCGGCTGGTCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.001		0.0	False		,,,				2504	0.0					uc001otd.2																			0					0						c.(301-303)CGG>TGG		ATG16 autophagy related 16-like 2							58.0	52.0	54.0					11																	72528883		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72528883C>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.301C>T	11.37:g.72528883C>T	ENSP00000326340:p.Arg101Trp					ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.2_5'UTR|ATG16L2_uc009ytj.1_Missense_Mutation_p.R101W	p.R101W	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		3	341	+			101					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.301C>T	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566110	0.65651	.	.	ENSG00000168010	ENST00000321297;ENST00000534905	D;T	0.83419	-1.72;0.89	3.91	1.75	0.24633	Autophagy-related protein 16 (1);	.	.	.	.	D	0.85906	0.5806	L	0.54323	1.7	0.24828	N	0.992549	D;D;D;D	0.89917	0.999;0.998;0.999;1.0	P;P;P;D	0.67103	0.761;0.556;0.901;0.949	T	0.73827	-0.3860	9	0.66056	D	0.02	.	6.2499	0.20839	0.3:0.5161:0.1839:0.0	.	101;101;101;100	B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.;.;A16L2_HUMAN;.	W	101	ENSP00000326340:R101W;ENSP00000441189:R101W	ENSP00000326340:R101W	R	+	1	2	ATG16L2	72206531	0.898000	0.30612	0.995000	0.50966	0.977000	0.68977	1.069000	0.30641	0.463000	0.27118	0.491000	0.48974	CGG		0.577	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388	
RNF26	79102	broad.mit.edu	37	11	119206097	119206097	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:119206097A>G	ENST00000311413.4	+	1	861	c.265A>G	c.(265-267)Agc>Ggc	p.S89G	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	89						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCTGTATAGCTGCTGCTC	0.607																																						uc001pwh.2																			0				ovary(1)	1						c.(265-267)AGC>GGC		ring finger protein 26							139.0	130.0	133.0					11																	119206097		2199	4295	6494	SO:0001583	missense	79102						zinc ion binding	g.chr11:119206097A>G	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.265A>G	11.37:g.119206097A>G	ENSP00000312439:p.Ser89Gly						p.S89G	NM_032015	NP_114404	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	861	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	89			Leu-rich.		Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	c.265A>G	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	A	4.612	0.113754	0.08831	.	.	ENSG00000173456	ENST00000311413	T	0.32753	1.44	5.25	4.13	0.48395	.	0.150139	0.47455	D	0.000229	T	0.13927	0.0337	N	0.16790	0.44	0.34361	D	0.690936	B	0.14012	0.009	B	0.10450	0.005	T	0.18335	-1.0340	10	0.06891	T	0.86	-4.1691	5.8406	0.18630	0.8156:0.0:0.1844:0.0	.	89	Q9BY78	RNF26_HUMAN	G	89	ENSP00000312439:S89G	ENSP00000312439:S89G	S	+	1	0	RNF26	118711307	0.191000	0.23288	0.862000	0.33874	0.976000	0.68499	1.396000	0.34531	1.994000	0.58287	0.533000	0.62120	AGC		0.607	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015	
TMEM136	219902	broad.mit.edu	37	11	120201174	120201174	+	Missense_Mutation	SNP	C	C	T	rs369584063		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:120201174C>T	ENST00000375095.2	+	3	929	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	TMEM136_ENST00000314475.2_Missense_Mutation_p.R252W|TMEM136_ENST00000529187.1_Missense_Mutation_p.R133W|TMEM136_ENST00000531346.1_3'UTR	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	230						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GAGAAGCAGGCGGAGTGAGGA	0.493																																						uc001pxh.1																			0				ovary(1)	1						c.(688-690)CGG>TGG		transmembrane protein 136		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	140.0	150.0		397,385,331,385,385,688,754	-2.7	0.5	11		150	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TMEM136	NM_174926.2,NM_001198675.1,NM_001198674.1,NM_001198673.1,NM_001198672.1,NM_001198671.1,NM_001198670.1	101,101,101,101,101,101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	133/149,129/145,111/127,129/145,129/145,230/246,252/268	120201174	1,13003	2203	4299	6502	SO:0001583	missense	219902					integral to membrane		g.chr11:120201174C>T	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.688C>T	11.37:g.120201174C>T	ENSP00000364236:p.Arg230Trp					TMEM136_uc001pxg.2_Missense_Mutation_p.R133W|TMEM136_uc010rzm.1_Missense_Mutation_p.R111W|TMEM136_uc001pxj.2_Missense_Mutation_p.R252W|TMEM136_uc009zas.1_Missense_Mutation_p.R116W|TMEM136_uc001pxi.1_Missense_Mutation_p.R116W	p.R230W	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	3	751	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	230					B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	c.688C>T	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840869	0.71488	2.27E-4	0.0	ENSG00000181264	ENST00000375095;ENST00000314475;ENST00000529187	.	.	.	5.91	-2.74	0.05932	.	0.946674	0.08965	N	0.868126	T	0.28665	0.0710	L	0.43152	1.355	0.09310	N	0.999999	B;B;B;B	0.13594	0.002;0.008;0.001;0.002	B;B;B;B	0.06405	0.0;0.002;0.0;0.0	T	0.28073	-1.0055	9	0.35671	T	0.21	-32.6991	4.7233	0.12929	0.3333:0.2968:0.0:0.37	.	111;252;230;133	Q6ZRR5-2;Q6ZRR5-3;Q6ZRR5;Q6ZRR5-4	.;.;TM136_HUMAN;.	W	230;252;133	.	ENSP00000312672:R252W	R	+	1	2	TMEM136	119706384	0.053000	0.20554	0.490000	0.27465	0.979000	0.70002	-0.575000	0.05861	-0.117000	0.11872	-0.150000	0.13652	CGG		0.493	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926	
FOXRED1	55572	broad.mit.edu	37	11	126143242	126143242	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:126143242C>T	ENST00000263578.5	+	4	503	c.429C>T	c.(427-429)gcC>gcT	p.A143A	FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Silent_p.A129A|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	143						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTACCTGGCCGTAGTCGATG	0.557																																						uc001qdi.2																			0					0						c.(427-429)GCC>GCT		FAD-dependent oxidoreductase domain containing							86.0	93.0	91.0					11																	126143242		2201	4298	6499	SO:0001819	synonymous_variant	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126143242C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.429C>T	11.37:g.126143242C>T						FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_Missense_Mutation_p.R12C|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.A129A|FOXRED1_uc001qdk.2_5'UTR	p.A143A	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	4	476	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	143					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	ENST00000263578.5	37	c.429C>T	CCDS8471.1																																																																																				0.557	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547	
ADAMTS15	170689	broad.mit.edu	37	11	130343095	130343095	+	Silent	SNP	G	G	A	rs544957547		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:130343095G>A	ENST00000299164.2	+	8	2232	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	744	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCGTGGTGTCGGCGGTGGAGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16494	0.001		0.0	False		,,,				2504	0.0					uc010scd.1																			0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2230-2232)TCG>TCA		a disintegrin-like and metalloprotease							67.0	63.0	64.0					11																	130343095		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343095G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2232G>A	11.37:g.130343095G>A							p.S744S	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2232	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	744			Spacer.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.2232G>A	CCDS8488.1																																																																																				0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.1																			0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
WBP11	51729	broad.mit.edu	37	12	14946750	14946750	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:14946750G>A	ENST00000261167.2	-	8	1061	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	276	Asp-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGATTTGTCGGTGTCACTGT	0.433																																						uc001rci.2																			0				ovary(1)|lung(1)	2						c.(826-828)ACC>ACT		WW domain binding protein 11							323.0	274.0	291.0					12																	14946750		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14946750G>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.828C>T	12.37:g.14946750G>A							p.T276T	NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN			8	989	-			276			Asp-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.828C>T	CCDS8666.1																																																																																				0.433	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
TXNRD1	7296	broad.mit.edu	37	12	104714974	104714974	+	Silent	SNP	C	C	T	rs201777096	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:104714974C>T	ENST00000529546.1	+	7	756	c.531C>T	c.(529-531)gaC>gaT	p.D177D	TXNRD1_ENST00000526691.1_Silent_p.D267D|TXNRD1_ENST00000397736.2_Silent_p.D259D|TXNRD1_ENST00000526390.1_Silent_p.D259D|TXNRD1_ENST00000354940.6_Silent_p.D215D|TXNRD1_ENST00000525566.1_Silent_p.D365D|TXNRD1_ENST00000526950.1_Silent_p.D284D|TXNRD1_ENST00000427956.1_Silent_p.D330D|TXNRD1_ENST00000524698.1_Silent_p.D215D|TXNRD1_ENST00000378070.4_Silent_p.D314D|TXNRD1_ENST00000388854.3_Silent_p.D267D|TXNRD1_ENST00000542918.1_Silent_p.D265D|TXNRD1_ENST00000540716.1_Silent_p.D177D|TXNRD1_ENST00000503506.2_Silent_p.D215D|TXNRD1_ENST00000429002.2_Silent_p.D365D			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	365					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTGGTTTAGACGTCACTGTTA	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.002				Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1																			0					0						c.(1093-1095)GAC>GAT		thioredoxin reductase 1 isoform 3							309.0	285.0	292.0					12																	104714974		1965	4156	6121	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104714974C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.531C>T	12.37:g.104714974C>T						TXNRD1_uc010swl.1_Silent_p.D215D|TXNRD1_uc010swm.1_Silent_p.D267D|TXNRD1_uc010swn.1_Silent_p.D215D|TXNRD1_uc010swo.1_Silent_p.D215D|TXNRD1_uc010swp.1_Silent_p.D177D|TXNRD1_uc010swq.1_Silent_p.D265D|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.D281D	p.D365D	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			10	1117	+			365	D -> N (in Ref. 3; AAC69621).				B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1095C>T	CCDS58274.1																																																																																				0.448	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	
ULK1	8408	broad.mit.edu	37	12	132397780	132397780	+	Silent	SNP	G	G	A	rs561387032		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:132397780G>A	ENST00000321867.4	+	14	1485	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	378	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAAACCCCCGCCAGACAGCC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		14257	0.0		0.0	False		,,,				2504	0.001					uc001uje.2																			0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1132-1134)CCG>CCA		Unc-51-like kinase 1							79.0	84.0	83.0					12																	132397780		2203	4299	6502	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132397780G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1134G>A	12.37:g.132397780G>A							p.P378P	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	14	1402	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		378			Interaction with GABARAP and GABARAPL2.		Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.1134G>A	CCDS9274.1																																																																																				0.622	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		
TPTE2	93492	broad.mit.edu	37	13	20067042	20067042	+	Splice_Site	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:20067042G>A	ENST00000400230.2	-	3	111	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TPTE2_ENST00000382977.4_Splice_Site_p.P23S|TPTE2_ENST00000457266.2_Splice_Site_p.P23S|TPTE2_ENST00000255310.6_Splice_Site_p.P23S|TPTE2_ENST00000382975.4_Splice_Site_p.P23S|TPTE2_ENST00000382978.1_Splice_Site_p.P23S|TPTE2_ENST00000390680.2_Splice_Site_p.P23S|TPTE2_ENST00000400103.2_Splice_Site_p.P23S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	23					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(67-69)CCA>TCA		TPTE and PTEN homologous inositol lipid							148.0	124.0	132.0					13																	20067042		2203	4300	6503	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067042G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.66-1C>T	13.37:g.20067042G>A						TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.P23S|TPTE2_uc001ume.2_Missense_Mutation_p.P23S|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.P23S	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	278	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	23					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.67C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.156787	0.01686	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.97906	-4.03;-4.6;-3.53;-3.85;-3.85;-3.53;-4.03;-4.6	0.963	-1.93	0.07594	.	0.536026	0.16595	N	0.207567	D	0.93103	0.7804	L	0.44542	1.39	0.09310	N	1	B;B;B	0.14805	0.0;0.009;0.011	B;B;B	0.11329	0.0;0.005;0.006	T	0.77970	-0.2387	9	.	.	.	.	2.4091	0.04420	0.3649:0.0:0.3007:0.3344	.	23;23;23	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	23	ENSP00000372438:P23S;ENSP00000382974:P23S;ENSP00000383089:P23S;ENSP00000255310:P23S;ENSP00000375098:P23S;ENSP00000372437:P23S;ENSP00000372435:P23S;ENSP00000442218:P23S	.	P	-	1	0	TPTE2	18965042	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.586000	0.02110	-2.909000	0.00309	-1.484000	0.00983	CCA		0.353	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation
PARP4	143	broad.mit.edu	37	13	25023906	25023906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:25023906C>T	ENST00000381989.3	-	25	3169	c.3064G>A	c.(3064-3066)Gga>Aga	p.G1022R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1022	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G1022*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAATACTCCGGCACCACAC	0.308																																						uc001upl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3064-3066)GGA>AGA		poly (ADP-ribose) polymerase family, member 4							67.0	68.0	68.0					13																	25023906		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25023906C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3064G>A	13.37:g.25023906C>T	ENSP00000371419:p.Gly1022Arg						p.G1022R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	25	3170	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1022			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.3064G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115918	0.77323	.	.	ENSG00000102699	ENST00000381989	D	0.82619	-1.63	4.64	4.64	0.57946	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	M	0.86953	2.85	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.93140	0.6540	10	0.87932	D	0	-19.97	15.2274	0.73361	0.0:1.0:0.0:0.0	.	1022	Q9UKK3	PARP4_HUMAN	R	1022	ENSP00000371419:G1022R	ENSP00000371419:G1022R	G	-	1	0	PARP4	23921906	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	5.518000	0.67068	2.460000	0.83146	0.545000	0.68477	GGA		0.308	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
STARD13	90627	broad.mit.edu	37	13	33704214	33704214	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:33704214G>A	ENST00000336934.5	-	5	716	c.600C>T	c.(598-600)agC>agT	p.S200S	STARD13_ENST00000399365.3_Silent_p.S82S|STARD13_ENST00000255486.4_Silent_p.S192S	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	200					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGCTTTCGCTGTGAATGG	0.627																																						uc001uuw.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(598-600)AGC>AGT		StAR-related lipid transfer (START) domain							40.0	37.0	38.0					13																	33704214		2203	4300	6503	SO:0001819	synonymous_variant	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33704214G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.600C>T	13.37:g.33704214G>A						STARD13_uc001uuu.2_Silent_p.S192S|STARD13_uc001uuv.2_Silent_p.S82S|STARD13_uc001uux.2_Silent_p.S165S|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.S185S	p.S200S	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	726	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	200					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	ENST00000336934.5	37	c.600C>T	CCDS9348.1																																																																																				0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATTTTAACGTAAGCCATAT	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		38	Unknown(23)|Whole gene deletion(15)	p.?(14)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80.0	87.0	84.0					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N106_splice	p.N405_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1381	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1215_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron
TGDS	23483	broad.mit.edu	37	13	95233375	95233375	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95233375A>C	ENST00000261296.5	-	6	645	c.525T>G	c.(523-525)tgT>tgG	p.C175W	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	175					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTGTACAAAACATTCAGCAG	0.318																																						uc001vlw.2																			0					0						c.(523-525)TGT>TGG		TDP-glucose 4,6-dehydratase							75.0	75.0	75.0					13																	95233375		2203	4299	6502	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95233375A>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.525T>G	13.37:g.95233375A>C	ENSP00000261296:p.Cys175Trp					TGDS_uc001vlx.2_RNA	p.C175W	NM_014305	NP_055120	O95455	TGDS_HUMAN			6	646	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		175					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.525T>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574465	0.65878	.	.	ENSG00000088451	ENST00000261296	D	0.92752	-3.1	5.54	-2.1	0.07210	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.146603	0.64402	D	0.000006	D	0.90590	0.7050	L	0.37630	1.12	0.58432	D	0.999999	D	0.56287	0.975	P	0.57204	0.815	D	0.88303	0.2951	10	0.66056	D	0.02	.	12.3663	0.55230	0.5621:0.0:0.4379:0.0	.	175	O95455	TGDS_HUMAN	W	175	ENSP00000261296:C175W	ENSP00000261296:C175W	C	-	3	2	TGDS	94031376	0.823000	0.29233	0.995000	0.50966	0.998000	0.95712	-0.100000	0.10990	-0.152000	0.11156	0.533000	0.62120	TGT		0.318	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305	
ABCC4	10257	broad.mit.edu	37	13	95673860	95673860	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95673860G>A	ENST00000376887.4	-	31	4061	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	RNU6-62P_ENST00000516526.1_RNA|ABCC4_ENST00000412704.1_Missense_Mutation_p.S1269L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1316					blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AGTTAAGGTCGAGGGCTGTCC	0.383																																						uc001vmd.3																			0				central_nervous_system(3)|skin(1)	4						c.(3946-3948)TCG>TTG		ATP-binding cassette, sub-family C, member 4	Cefazolin(DB01327)						148.0	131.0	137.0					13																	95673860		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95673860G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3947C>T	13.37:g.95673860G>A	ENSP00000366084:p.Ser1316Leu					ABCC4_uc010afj.2_Missense_Mutation_p.S107L|ABCC4_uc010afk.2_Missense_Mutation_p.S1269L	p.S1316L	NM_005845	NP_005836	O15439	MRP4_HUMAN			31	4066	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1316					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.3947C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	5.327	0.245718	0.10077	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90732	-2.72;-2.69	5.4	4.53	0.55603	.	0.364173	0.23561	N	0.046856	T	0.80215	0.4582	L	0.36672	1.1	0.19775	N	0.999959	P;P	0.43750	0.583;0.816	B;B	0.27380	0.03;0.079	T	0.75476	-0.3304	10	0.66056	D	0.02	.	5.3101	0.15825	0.0795:0.1397:0.6365:0.1443	.	1269;1316	O15439-2;O15439	.;MRP4_HUMAN	L	1269;1316	ENSP00000388657:S1269L;ENSP00000366084:S1316L	ENSP00000366084:S1316L	S	-	2	0	ABCC4	94471861	0.995000	0.38212	0.790000	0.31976	0.017000	0.09413	3.693000	0.54735	1.338000	0.45544	0.563000	0.77884	TCG		0.383	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
COL4A2	1284	broad.mit.edu	37	13	111088642	111088642	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111088642C>T	ENST00000360467.5	+	13	1059	c.753C>T	c.(751-753)aaC>aaT	p.N251N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	251	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGACCCAACGGGATTCCAT	0.463																																						uc001vqx.2																			0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(751-753)AAC>AAT		alpha 2 type IV collagen preproprotein							86.0	91.0	89.0					13																	111088642		1932	4134	6066	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111088642C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.753C>T	13.37:g.111088642C>T							p.N251N	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		13	1042	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	251			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.753C>T	CCDS41907.1																																																																																				0.463	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
ING1	3621	broad.mit.edu	37	13	111371669	111371669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111371669C>T	ENST00000375774.3	+	2	1121	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ING1_ENST00000375775.3_Missense_Mutation_p.A8V|ING1_ENST00000338450.7_Missense_Mutation_p.A33V|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000333219.7_Missense_Mutation_p.A77V	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	220					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCAGCGCGCGCTGATCCGC	0.652																																						uc001vri.2																			0				ovary(1)	1						c.(658-660)GCG>GTG		inhibitor of growth family, member 1 isoform D							43.0	50.0	48.0					13																	111371669		2203	4298	6501	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371669C>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.659C>T	13.37:g.111371669C>T	ENSP00000364929:p.Ala220Val					ING1_uc001vrf.2_Missense_Mutation_p.A33V|ING1_uc001vrg.2_Missense_Mutation_p.A8V|ING1_uc001vrh.2_Missense_Mutation_p.A77V	p.A220V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1091	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		220					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.659C>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252931	0.59212	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T	0.49720	0.77	5.13	5.13	0.70059	Inhibitor of growth protein, N-terminal (1);	0.107189	0.64402	D	0.000006	T	0.68824	0.3043	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.966;0.983	D;P;P	0.72982	0.979;0.667;0.537	T	0.68096	-0.5499	10	0.36615	T	0.2	-39.019	18.5935	0.91223	0.0:1.0:0.0:0.0	.	220;77;33	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	V	33;77;8;220	ENSP00000364929:A220V	ENSP00000328436:A77V	A	+	2	0	ING1	110169670	1.000000	0.71417	0.722000	0.30670	0.245000	0.25701	5.571000	0.67404	2.385000	0.81259	0.484000	0.47621	GCG		0.652	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
ARHGEF7	8874	broad.mit.edu	37	13	111870210	111870210	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111870210G>A	ENST00000375741.2	+	6	966	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R61H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R146H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R61H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R218H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R189H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.R61H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.R61H|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R136H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	239	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACTACGTGCGCGAGGTCAAG	0.567																																						uc001vrs.2																			0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(715-717)CGC>CAC		PAK-interacting exchange factor beta isoform c							42.0	41.0	42.0					13																	111870210		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870210G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.716G>A	13.37:g.111870210G>A	ENSP00000364893:p.Arg239His					ARHGEF7_uc001vrr.2_Missense_Mutation_p.R218H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R189H|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.R61H|ARHGEF7_uc001vrv.3_Missense_Mutation_p.R61H|ARHGEF7_uc001vrw.3_Missense_Mutation_p.R61H|ARHGEF7_uc001vrx.3_Missense_Mutation_p.R61H|ARHGEF7_uc010tjo.1_Missense_Mutation_p.R136H	p.R239H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	966	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		239			SH3.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.716G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048468	0.93740	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.82	4.82	0.62117	Src homology-3 domain (4);Variant SH3 (1);	0.066312	0.64402	D	0.000009	T	0.49592	0.1566	L	0.43757	1.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79108	0.988;0.927;0.992;0.987	T	0.52518	-0.8565	10	0.87932	D	0	.	18.2835	0.90105	0.0:0.0:1.0:0.0	.	136;189;239;218	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	218;239;189;61;146;216;61;61;61;61;61;136;136;61	ENSP00000325994:R218H;ENSP00000364893:R239H;ENSP00000364891:R189H;ENSP00000406732:R61H;ENSP00000359657:R146H;ENSP00000418067:R61H;ENSP00000218789:R61H;ENSP00000364888:R61H;ENSP00000420592:R61H;ENSP00000397068:R61H;ENSP00000389890:R136H;ENSP00000364889:R136H;ENSP00000364875:R61H	ENSP00000218789:R61H	R	+	2	0	ARHGEF7	110668211	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.464000	0.80887	2.366000	0.80165	0.655000	0.94253	CGC		0.567	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511	
NEMF	9147	broad.mit.edu	37	14	50267402	50267402	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:50267402G>A	ENST00000298310.5	-	23	2557	c.2108C>T	c.(2107-2109)aCg>aTg	p.T703M	NEMF_ENST00000546046.1_Missense_Mutation_p.T682M|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.T661M			O60524	NEMF_HUMAN	nuclear export mediator factor	703					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATCACTGCTCGTGTCACCTCC	0.413																																						uc001wxc.2																			0					0						c.(2107-2109)ACG>ATG		serologically defined colon cancer antigen 1							139.0	128.0	132.0					14																	50267402		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50267402G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2108C>T	14.37:g.50267402G>A	ENSP00000298310:p.Thr703Met					SDCCAG1_uc010anj.1_Missense_Mutation_p.T703M|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Translation_Start_Site|SDCCAG1_uc010tqi.1_Missense_Mutation_p.T682M|SDCCAG1_uc001wxe.2_Missense_Mutation_p.T661M|SDCCAG1_uc001wxd.1_Missense_Mutation_p.T108M	p.T703M	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	23	2176	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	703					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2108C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287937	0.40494	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.93	4.05	0.47172	.	0.053140	0.64402	D	0.000001	T	0.19208	0.0461	N	0.08118	0	0.80722	D	1	P;P;P;P	0.43633	0.77;0.666;0.813;0.66	B;B;B;B	0.36289	0.169;0.221;0.185;0.118	T	0.03852	-1.0998	10	0.46703	T	0.11	-7.9848	7.156	0.25637	0.0:0.6354:0.2574:0.1072	.	682;678;661;703	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	M	703;661;682;475;661	ENSP00000298310:T703M;ENSP00000438309:T661M;ENSP00000441016:T682M;ENSP00000452540:T661M	ENSP00000298310:T703M	T	-	2	0	NEMF	49337152	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	2.793000	0.47845	1.081000	0.41110	0.460000	0.39030	ACG		0.413	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
BMP4	652	broad.mit.edu	37	14	54418835	54418835	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:54418835C>T	ENST00000245451.4	-	3	499	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	BMP4_ENST00000559087.1_Missense_Mutation_p.A36T|BMP4_ENST00000417573.1_Missense_Mutation_p.A36T|BMP4_ENST00000558984.1_Missense_Mutation_p.A36T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	36					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGAATCTCGGCGACTTTTTTC	0.582																																						uc001xal.3																			0					0						c.(106-108)GCC>ACC		bone morphogenetic protein 4 preproprotein							56.0	60.0	59.0					14																	54418835		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54418835C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.106G>A	14.37:g.54418835C>T	ENSP00000245451:p.Ala36Thr					BMP4_uc010aoh.2_Missense_Mutation_p.A36T|BMP4_uc001xao.3_Missense_Mutation_p.A36T|BMP4_uc001xan.3_Missense_Mutation_p.A36T	p.A36T	NM_130851	NP_570912	P12644	BMP4_HUMAN			2	293	-			36					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.106G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578484	0.46006	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72167	-0.63;-0.63	5.2	4.29	0.51040	.	0.572773	0.18889	N	0.128376	T	0.60805	0.2297	L	0.40543	1.245	0.41020	D	0.985072	B	0.10296	0.003	B	0.06405	0.002	T	0.55704	-0.8099	10	0.28530	T	0.3	.	13.3031	0.60336	0.0:0.923:0.0:0.077	.	36	P12644	BMP4_HUMAN	T	36	ENSP00000245451:A36T;ENSP00000394165:A36T	ENSP00000245451:A36T	A	-	1	0	BMP4	53488585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.279000	0.33191	2.717000	0.92951	0.655000	0.94253	GCC		0.582	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202	
PLEKHG3	26030	broad.mit.edu	37	14	65208866	65208866	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:65208866G>A	ENST00000394691.1	+	16	2778	c.2631G>A	c.(2629-2631)ccG>ccA	p.P877P	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.P410P|PLEKHG3_ENST00000247226.7_Silent_p.P821P|PLEKHG3_ENST00000484731.2_Silent_p.P382P			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	877							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCGCAGCCCGGCCCACCTGG	0.667																																						uc001xho.1																			0				skin(1)	1						c.(2629-2631)CCG>CCA		pleckstrin homology domain containing, family G,							19.0	25.0	23.0					14																	65208866		2202	4297	6499	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208866G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2631G>A	14.37:g.65208866G>A						PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xhp.2_Silent_p.P998P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	p.P877P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	16	2900	+			877					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.2631G>A																																																																																					0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549	
ADCK1	57143	broad.mit.edu	37	14	78390916	78390916	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:78390916G>A	ENST00000238561.5	+	8	1074	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ADCK1_ENST00000341211.5_Silent_p.A257A|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	332	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CGGGAAAGGCGGAGATTGTCC	0.557																																						uc001xui.2																			0				stomach(2)|ovary(1)	3						c.(973-975)GCG>GCA		aarF domain containing kinase 1 isoform a							84.0	79.0	81.0					14																	78390916		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390916G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.975G>A	14.37:g.78390916G>A						ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.2_Silent_p.A32A	p.A325A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	1074	+			332			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.975G>A	CCDS9869.1																																																																																				0.557	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
EML5	161436	broad.mit.edu	37	14	89160659	89160659	+	Missense_Mutation	SNP	C	C	T	rs370809285		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:89160659C>T	ENST00000380664.5	-	17	2530	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	EML5_ENST00000352093.5_Missense_Mutation_p.R844H|EML5_ENST00000554922.1_Missense_Mutation_p.R844H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	844						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTGCTTTACGCCAAAATTT	0.323																																						uc001xxg.2																			0				ovary(3)	3						c.(2530-2532)CGT>CAT		echinoderm microtubule associated protein like							92.0	82.0	85.0					14																	89160659		1819	4056	5875	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89160659C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2531G>A	14.37:g.89160659C>T	ENSP00000370039:p.Arg844His					EML5_uc001xxh.1_Missense_Mutation_p.R21H	p.R844H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			18	2717	-			844			WD 13.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2531G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628253	0.46944	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.43688	0.94;2.21;0.98	5.4	4.52	0.55395	Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.125201	0.52532	N	0.000064	T	0.22627	0.0546	N	0.03608	-0.345	0.38938	D	0.95808	B;B	0.13145	0.003;0.007	B;B	0.10450	0.005;0.002	T	0.07065	-1.0792	10	0.45353	T	0.12	-4.6344	13.9496	0.64109	0.0:0.9268:0.0:0.0732	.	844;844	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	H	844	ENSP00000451998:R844H;ENSP00000298315:R844H;ENSP00000370039:R844H	ENSP00000298315:R844H	R	-	2	0	EML5	88230412	0.741000	0.28217	0.985000	0.45067	0.993000	0.82548	1.269000	0.33074	1.528000	0.49103	0.655000	0.94253	CGT		0.323	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
RIN3	79890	broad.mit.edu	37	14	93119291	93119291	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:93119291C>T	ENST00000216487.7	+	6	2056	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	633	Interaction with RAB5B.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R633C(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGATGGCGCGCCAGACCTC	0.597																																						uc001yap.2																			1	Substitution - Missense(1)		endometrium(1)	lung(2)|ovary(1)	3						c.(1897-1899)CGC>TGC		Ras and Rab interactor 3							59.0	48.0	52.0					14																	93119291		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93119291C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1897C>T	14.37:g.93119291C>T	ENSP00000216487:p.Arg633Cys					RIN3_uc010auk.2_Missense_Mutation_p.R295C|RIN3_uc001yaq.2_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	p.R633C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	2049	+		all_cancers(154;0.0701)	633			Interaction with RAB5B.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1897C>T	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.52|14.52	2.558983|2.558983	0.45590|0.45590	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000556418|ENST00000216487;ENST00000428147	T|T	0.29397|0.30182	1.57|1.54	4.58|4.58	3.6|3.6	0.41247|0.41247	.|.	.|0.218239	.|0.36972	.|N	.|0.002302	T|T	0.26159|0.26159	0.0638|0.0638	N|N	0.04090|0.04090	-0.28|-0.28	0.48452|0.48452	D|D	0.99965|0.99965	.|B;B;B;D	.|0.89917	.|0.417;0.185;0.185;1.0	.|B;B;B;P	.|0.61722	.|0.119;0.006;0.011;0.893	T|T	0.11227|0.11227	-1.0596|-1.0596	6|10	.|0.48119	.|T	.|0.1	-12.8354|-12.8354	9.7361|9.7361	0.40388|0.40388	0.494:0.506:0.0:0.0|0.494:0.506:0.0:0.0	.|.	.|633;679;558;633	.|Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.|.;.;.;RIN3_HUMAN	V|C	149|633;557	ENSP00000450986:A149V|ENSP00000216487:R633C	.|ENSP00000216487:R633C	A|R	+|+	2|1	0|0	RIN3|RIN3	92189044|92189044	0.946000|0.946000	0.32159|0.32159	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	3.565000|3.565000	0.53798|0.53798	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.597	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
SERPINA5	5104	broad.mit.edu	37	14	95058444	95058444	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95058444G>A	ENST00000554866.1	+	5	1203	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	SERPINA5_ENST00000553780.1_Silent_p.A363A|RP11-986E7.7_ENST00000553947.1_Missense_Mutation_p.R17Q|SERPINA5_ENST00000554276.1_Silent_p.A363A|SERPINA5_ENST00000329597.7_Silent_p.A363A			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	363					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGAGCAGCGGCAGCCACGG	0.567																																						uc001ydm.2																			0				ovary(2)	2						c.(1087-1089)GCG>GCA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						173.0	178.0	176.0					14																	95058444		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058444G>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1089G>A	14.37:g.95058444G>A						SERPINA3_uc001ydo.3_5'UTR	p.A363A	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1299	+			363					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1089G>A	CCDS9928.1																																																																																				0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624	
SYNE3	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	rs143391386		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95922000G>A	ENST00000334258.5	-	5	865	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SYNE3_ENST00000554873.1_Missense_Mutation_p.A41V|SYNE3_ENST00000557275.1_Missense_Mutation_p.A284V|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284V	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	284					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AATGACACCCGCAGACTGCTC	0.567																																						uc001yei.3																			0				central_nervous_system(1)	1						c.(850-852)GCG>GTG		nesprin-3		A	VAL/ALA	1,4405	825.6+/-416.5	0,1,2202	89.0	93.0	92.0		851	-7.7	0.0	14	dbSNP_134	92	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	284/976	95922000	1,13005	2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95922000G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.851C>T	14.37:g.95922000G>A	ENSP00000334308:p.Ala284Val					C14orf49_uc010avi.2_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	866	-		all_cancers(154;0.0937)	284			Spectrin 1.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.851C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.747204	0.00669	2.27E-4	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.35421	3.48;1.31;3.48;2.89	4.99	-7.67	0.01272	.	0.676502	0.12111	N	0.498534	T	0.06234	0.0161	N	0.00368	-1.59	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.30736	-0.9968	10	0.21014	T	0.42	-3.5344	3.8501	0.08951	0.352:0.0843:0.3967:0.1669	.	284;284;284	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	V	284;41;284;284	ENSP00000334308:A284V;ENSP00000452154:A41V;ENSP00000450562:A284V;ENSP00000450774:A284V	ENSP00000334308:A284V	A	-	2	0	C14orf49	94991753	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.424000	0.02448	-2.031000	0.00928	-0.556000	0.04195	GCG		0.567	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
CDC42BPB	9578	broad.mit.edu	37	14	103412980	103412980	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:103412980C>T	ENST00000361246.2	-	28	3861	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATGAGCAGCGAGCTGGTCT	0.488																																						uc001ymi.1																			0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3571-3573)TCG>TCA		CDC42-binding protein kinase beta							86.0	80.0	82.0					14																	103412980		2203	4294	6497	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103412980C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3573G>A	14.37:g.103412980C>T						CDC42BPB_uc001ymj.1_Silent_p.S293S	p.S1191S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	28	3805	-		Melanoma(154;0.155)	1191			PH.			Silent	SNP	ENST00000361246.2	37	c.3573G>A	CCDS9978.1																																																																																				0.488	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
HERC2	8924	broad.mit.edu	37	15	28421858	28421858	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:28421858C>T	ENST00000261609.7	-	62	9597	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGGTCTGCGCGTCTCTAC	0.493																																						uc001zbj.2																			0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(9487-9489)GCG>GCA		hect domain and RLD 2							177.0	183.0	181.0					15																	28421858		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28421858C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9489G>A	15.37:g.28421858C>T							p.A3163A	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	62	9595	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3163			RCC1 9.			Silent	SNP	ENST00000261609.7	37	c.9489G>A	CCDS10021.1																																																																																				0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
SPTBN5	51332	broad.mit.edu	37	15	42151139	42151139	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:42151139A>G	ENST00000320955.6	-	48	8255	c.8028T>C	c.(8026-8028)caT>caC	p.H2676H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2676					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCCAGGCGATGGCGGCGGG	0.706																																						uc001zos.2																			0				ovary(1)|central_nervous_system(1)	2						c.(7921-7923)CAT>CAC		spectrin, beta, non-erythrocytic 5							11.0	13.0	12.0					15																	42151139		1901	4094	5995	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42151139A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8028T>C	15.37:g.42151139A>G							p.H2641H	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	48	8256	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2676			Spectrin 23.			Silent	SNP	ENST00000320955.6	37	c.7923T>C																																																																																					0.706	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
SLC27A2	11001	broad.mit.edu	37	15	50528151	50528151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:50528151G>A	ENST00000267842.5	+	10	1953	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R521H|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R339H	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	574					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTAAACACCGCAAAATGACC	0.418																																						uc001zxw.2																			0				ovary(1)|skin(1)	2						c.(1720-1722)CGC>CAC		solute carrier family 27 (fatty acid							161.0	141.0	148.0					15																	50528151		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50528151G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1721G>A	15.37:g.50528151G>A	ENSP00000267842:p.Arg574His					SLC27A2_uc010bes.2_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.2_Missense_Mutation_p.R339H	p.R574H	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	10	1953	+		all_lung(180;0.00177)	574			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1721G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372083	0.82573	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50813	0.73;0.73;0.73	5.87	5.87	0.94306	.	0.224693	0.44483	D	0.000450	T	0.68449	0.3002	M	0.91459	3.21	0.43814	D	0.996372	D;D	0.67145	0.977;0.996	P;P	0.53649	0.648;0.731	T	0.75416	-0.3325	10	0.66056	D	0.02	.	14.8579	0.70355	0.0:0.0:0.8559:0.1441	.	521;574	Q6PF09;O14975	.;S27A2_HUMAN	H	521;574;339	ENSP00000370289:R521H;ENSP00000267842:R574H;ENSP00000444549:R339H	ENSP00000267842:R574H	R	+	2	0	SLC27A2	48315443	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.863000	0.39459	2.941000	0.99782	0.655000	0.94253	CGC		0.418	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
ARID3B	10620	broad.mit.edu	37	15	74888087	74888087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:74888087C>T	ENST00000346246.5	+	9	1886	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	553	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCCCCAGCGCAGAGCCCTCC	0.617																																						uc002aye.2																			0					0						c.(1657-1659)GCA>GTA		AT rich interactive domain 3B							40.0	46.0	44.0					15																	74888087		2197	4294	6491	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888087C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1655C>T	15.37:g.74888087C>T	ENSP00000343126:p.Ala552Val					ARID3B_uc002ayd.2_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	p.A553V	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			9	1859	+			553			Ser-rich.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1658C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032552	0.75504	.	.	ENSG00000179361	ENST00000346246	T	0.48522	0.81	4.4	3.48	0.39840	.	0.222724	0.36703	N	0.002445	T	0.32585	0.0834	N	0.19112	0.55	0.34822	D	0.738753	B;B	0.14438	0.006;0.01	B;B	0.17433	0.008;0.018	T	0.37596	-0.9699	10	0.38643	T	0.18	-3.2802	12.4942	0.55918	0.0:0.9186:0.0:0.0814	.	553;552	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	V	552	ENSP00000343126:A552V	ENSP00000343126:A552V	A	+	2	0	ARID3B	72675140	0.994000	0.37717	0.998000	0.56505	0.994000	0.84299	3.491000	0.53252	1.210000	0.43336	0.462000	0.41574	GCA		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465	
COMMD4	54939	broad.mit.edu	37	15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T	rs377428086		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75631625C>T	ENST00000267935.8	+	6	521	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C|COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	108						cytoplasm (GO:0005737)		p.R108C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612																																						uc002azy.2																			1	Substitution - Missense(1)		kidney(1)		0						c.(322-324)CGC>TGC		COMM domain containing 4		C	CYS/ARG	0,4394		0,0,2197	30.0	32.0	31.0		322	4.6	1.0	15		31	3,8583	3.0+/-9.4	0,3,4290	no	missense	COMMD4	NM_017828.3	180	0,3,6487	TT,TC,CC		0.0349,0.0,0.0231	benign	108/200	75631625	3,12977	2197	4293	6490	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75631625C>T	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.322C>T	15.37:g.75631625C>T	ENSP00000267935:p.Arg108Cys					COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.2_Silent_p.A90A|COMMD4_uc002baa.2_Missense_Mutation_p.R108C|COMMD4_uc010umg.1_3'UTR|COMMD4_uc010umh.1_RNA	p.R108C	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN			6	379	+			108					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.322C>T	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034546	0.54896	0.0	3.49E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.11169	2.8;2.8	4.58	4.58	0.56647	.	0.059165	0.64402	D	0.000002	T	0.19725	0.0474	M	0.81341	2.54	0.80722	D	1	B;B	0.32425	0.125;0.371	B;B	0.34093	0.024;0.175	T	0.04900	-1.0919	10	0.59425	D	0.04	.	16.78	0.85561	0.0:1.0:0.0:0.0	.	108;108	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	C	108	ENSP00000267935:R108C;ENSP00000340867:R108C	ENSP00000267935:R108C	R	+	1	0	COMMD4	73418678	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.077000	0.50089	2.275000	0.75901	0.597000	0.82753	CGC		0.612	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828	
SIN3A	25942	broad.mit.edu	37	15	75722661	75722661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75722661C>T	ENST00000394947.3	-	2	370	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SIN3A_ENST00000394949.4_Missense_Mutation_p.R19Q|SIN3A_ENST00000360439.4_Missense_Mutation_p.R19Q|SIN3A_ENST00000567289.1_Missense_Mutation_p.R19Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCCAGGGATCCGACGCTGCTG	0.577																																						uc002bai.2																			0				skin(3)|ovary(1)|lung(1)	5						c.(55-57)CGG>CAG		transcriptional co-repressor Sin3A							67.0	57.0	60.0					15																	75722661		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75722661C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.56G>A	15.37:g.75722661C>T	ENSP00000378402:p.Arg19Gln					SIN3A_uc002baj.2_Missense_Mutation_p.R19Q|SIN3A_uc010uml.1_Missense_Mutation_p.R19Q|SIN3A_uc002bak.3_Missense_Mutation_p.R19Q	p.R19Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			2	315	-			19						Missense_Mutation	SNP	ENST00000394947.3	37	c.56G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	36	5.935681	0.97122	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.46063	0.88;0.88;0.88	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.50333	1.59	0.80722	D	1	B	0.21688	0.059	B	0.08055	0.003	T	0.12941	-1.0528	10	0.30078	T	0.28	-24.8624	18.6584	0.91463	0.0:1.0:0.0:0.0	.	19	Q96ST3	SIN3A_HUMAN	Q	19	ENSP00000378402:R19Q;ENSP00000378403:R19Q;ENSP00000353622:R19Q	ENSP00000353622:R19Q	R	-	2	0	SIN3A	73509714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.664000	0.90586	0.655000	0.94253	CGG		0.577	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
WDR61	80349	broad.mit.edu	37	15	78578420	78578420	+	Missense_Mutation	SNP	C	C	T	rs148690647		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:78578420C>T	ENST00000267973.2	-	9	983	c.712G>A	c.(712-714)Gtt>Att	p.V238I	WDR61_ENST00000558311.1_Missense_Mutation_p.V238I|WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558459.1_Missense_Mutation_p.V145I			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	238					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGAATGCAACGTTCAGCACC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18814	0.0		0.001	False		,,,				2504	0.0					uc002bdn.2																			0				ovary(1)|skin(1)	2						c.(712-714)GTT>ATT		WD repeat domain 61		C	ILE/VAL	2,4390	4.2+/-10.8	0,2,2194	60.0	51.0	54.0		712	5.7	0.6	15	dbSNP_134	54	2,8584	2.2+/-6.3	0,2,4291	yes	missense	WDR61	NM_025234.1	29	0,4,6485	TT,TC,CC		0.0233,0.0455,0.0308	benign	238/306	78578420	4,12974	2196	4293	6489	SO:0001583	missense	80349						protein binding	g.chr15:78578420C>T		CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.712G>A	15.37:g.78578420C>T	ENSP00000267973:p.Val238Ile					WDR61_uc002bdo.2_Missense_Mutation_p.V238I	p.V238I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN			9	788	-			238			WD 6.		D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	c.712G>A	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804776	0.70682	4.55E-4	2.33E-4	ENSG00000140395	ENST00000267973	T	0.61040	0.14	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.175627	0.49916	D	0.000123	T	0.54565	0.1866	L	0.43757	1.38	0.80722	D	1	B	0.17268	0.021	B	0.22386	0.039	T	0.48917	-0.8992	10	0.46703	T	0.11	-1.148	18.7811	0.91933	0.0:1.0:0.0:0.0	.	238	Q9GZS3	WDR61_HUMAN	I	238	ENSP00000267973:V238I	ENSP00000267973:V238I	V	-	1	0	WDR61	76365475	1.000000	0.71417	0.630000	0.29268	0.984000	0.73092	7.363000	0.79516	2.672000	0.90937	0.655000	0.94253	GTT		0.433	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	
MESDC1	59274	broad.mit.edu	37	15	81295114	81295114	+	Missense_Mutation	SNP	C	C	T	rs372825596		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:81295114C>T	ENST00000267984.2	+	1	1820	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	168										endometrium(1)|lung(2)	3						CGCCGTGCTGCGCGCCACGCC	0.746																																						uc002bfz.2																			0					0						c.(502-504)CGC>TGC		mesoderm development candidate 1		C	CYS/ARG	0,4254		0,0,2127	9.0	10.0	10.0		502	1.3	1.0	15		10	1,8247		0,1,4123	no	missense	MESDC1	NM_022566.2	180	0,1,6250	TT,TC,CC		0.0121,0.0,0.0080	probably-damaging	168/363	81295114	1,12501	2127	4124	6251	SO:0001583	missense	59274							g.chr15:81295114C>T	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.502C>T	15.37:g.81295114C>T	ENSP00000267984:p.Arg168Cys						p.R168C	NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN			1	1820	+			168						Missense_Mutation	SNP	ENST00000267984.2	37	c.502C>T	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494370	0.44352	0.0	1.21E-4	ENSG00000140406	ENST00000267984	T	0.08370	3.1	3.45	1.27	0.21489	.	0.081503	0.46145	D	0.000314	T	0.06826	0.0174	L	0.27053	0.805	0.58432	D	0.999991	D	0.59767	0.986	B	0.43783	0.431	T	0.34004	-0.9846	10	0.59425	D	0.04	-12.2101	10.7082	0.45966	0.451:0.549:0.0:0.0	.	168	Q9H1K6	MESD1_HUMAN	C	168	ENSP00000267984:R168C	ENSP00000267984:R168C	R	+	1	0	MESDC1	79082169	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.615000	0.46368	0.729000	0.32403	0.462000	0.41574	CGC		0.746	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566	
WDR73	84942	broad.mit.edu	37	15	85189474	85189474	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:85189474G>A	ENST00000434634.2	-	6	518	c.458C>T	c.(457-459)gCg>gTg	p.A153V	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	153										cervix(1)|large_intestine(1)|lung(1)	3						TCGGAGCCTCGCCCCATGGAG	0.582																																						uc002bkw.2																			0					0						c.(457-459)GCG>GTG		WD repeat domain 73							50.0	54.0	53.0					15																	85189474		2002	4168	6170	SO:0001583	missense	84942							g.chr15:85189474G>A	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.458C>T	15.37:g.85189474G>A	ENSP00000387982:p.Ala153Val					WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.A153V|uc002bky.1_3'UTR	p.A153V	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN			6	474	-			153					Q96JZ1|Q9P0B7	Missense_Mutation	SNP	ENST00000434634.2	37	c.458C>T	CCDS45339.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411253	0.11812	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.29917	1.55	5.87	-11.7	0.00046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.677027	0.15172	N	0.276599	T	0.10852	0.0265	N	0.12746	0.255	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.09377	0.004;0.004	T	0.08911	-1.0699	10	0.38643	T	0.18	0.8423	8.3571	0.32338	0.6708:0.0824:0.1632:0.0835	.	153;153	B4DI20;Q6P4I2	.;WDR73_HUMAN	V	161;153	ENSP00000387982:A153V	ENSP00000381539:A161V	A	-	2	0	WDR73	82990478	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.972000	0.03802	-3.141000	0.00233	-1.110000	0.02074	GCG		0.582	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1	NM_032856	
LRRK1	79705	broad.mit.edu	37	15	101567914	101567914	+	Silent	SNP	C	C	T	rs535655027		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:101567914C>T	ENST00000388948.3	+	19	2957	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	LRRK1_ENST00000284395.5_Silent_p.D863D	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGACGACGACGTGCAGTACC	0.667																																						uc002bwr.2																			0				ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(2596-2598)GAC>GAT		leucine-rich repeat kinase 1							25.0	36.0	32.0					15																	101567914		2164	4270	6434	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567914C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2598C>T	15.37:g.101567914C>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.D866D	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		19	2917	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		866						Silent	SNP	ENST00000388948.3	37	c.2598C>T	CCDS42086.1																																																																																				0.667	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
HS3ST2	9956	broad.mit.edu	37	16	22926622	22926622	+	Silent	SNP	G	G	A	rs148264643		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:22926622G>A	ENST00000261374.3	+	2	1277	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	281					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTGACCCGGCCGGCGAGA	0.552																																						uc002dli.2																			0				ovary(1)|pancreas(1)	2						c.(841-843)CCG>CCA		heparan sulfate D-glucosaminyl		G		0,4394		0,0,2197	99.0	101.0	100.0		843	-10.4	0.0	16	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HS3ST2	NM_006043.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		281/368	22926622	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926622G>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.843G>A	16.37:g.22926622G>A						HS3ST2_uc002dlj.2_RNA	p.P281P	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	915	+			281			Lumenal (Potential).		Q52LZ1	Silent	SNP	ENST00000261374.3	37	c.843G>A	CCDS10606.1																																																																																				0.552	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
C16orf54	283897	broad.mit.edu	37	16	29756241	29756241	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:29756241C>T	ENST00000329410.3	-	2	127	c.32G>A	c.(31-33)cGc>cAc	p.R11H	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	11						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCCTCCACGCGCCCAGAGGG	0.652																																						uc002dtp.2																			0					0						c.(31-33)CGC>CAC		hypothetical protein LOC283897							12.0	15.0	14.0					16																	29756241		2184	4277	6461	SO:0001583	missense	283897					integral to membrane		g.chr16:29756241C>T	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.32G>A	16.37:g.29756241C>T	ENSP00000327506:p.Arg11His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	p.R11H	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			2	141	-			11					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.32G>A	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	1.864	-0.461804	0.04508	.	.	ENSG00000185905	ENST00000329410	T	0.44482	0.92	5.3	-1.96	0.07525	.	1.361290	0.05281	N	0.519402	T	0.14399	0.0348	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12553	-1.0543	10	0.14252	T	0.57	-0.8817	3.1745	0.06564	0.1386:0.0844:0.4283:0.3488	.	11	Q6UWD8	CP054_HUMAN	H	11	ENSP00000327506:R11H	ENSP00000327506:R11H	R	-	2	0	C16orf54	29663742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.534000	0.06150	-0.612000	0.05701	-0.657000	0.03884	CGC		0.652	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900	
ZNF689	115509	broad.mit.edu	37	16	30616193	30616193	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30616193G>A	ENST00000287461.3	-	3	1232	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	299					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GTGCGCTGGCGGAAGCGGCGG	0.672																																						uc002dyx.2																			0					0						c.(895-897)CGC>TGC		zinc finger protein HIT-39							60.0	42.0	48.0					16																	30616193		2197	4298	6495	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616193G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.895C>T	16.37:g.30616193G>A	ENSP00000287461:p.Arg299Cys					ZNF689_uc010bzy.2_5'UTR	p.R299C	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	1215	-			299			C2H2-type 6.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.895C>T	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.472711	0.63737	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.18502	2.21	4.95	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000182	T	0.25457	0.0619	L	0.35793	1.09	0.46260	D	0.99895	D	0.89917	1.0	D	0.91635	0.999	T	0.00692	-1.1607	10	0.41790	T	0.15	-33.0005	5.7979	0.18397	0.0957:0.0:0.7108:0.1935	.	299	Q96CS4	ZN689_HUMAN	C	299	ENSP00000287461:R299C	ENSP00000287461:R299C	R	-	1	0	ZNF689	30523694	0.000000	0.05858	1.000000	0.80357	0.968000	0.65278	-0.549000	0.06041	2.753000	0.94483	0.455000	0.32223	CGC		0.672	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447	
FBXL19	54620	broad.mit.edu	37	16	30958480	30958480	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30958480C>T	ENST00000380310.2	+	11	2172	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000338343.4_Missense_Mutation_p.R652W|FBXL19_ENST00000565690.1_Missense_Mutation_p.R536W|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.R360W|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Missense_Mutation_p.R652W|AC135048.13_ENST00000566056.1_RNA	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	672					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGCTTGTGCCCGGCTGGCAGC	0.711																																						uc002eab.2																			0				ovary(2)|lung(1)|breast(1)	4						c.(2014-2016)CGG>TGG		F-box and leucine-rich repeat protein 19							11.0	14.0	13.0					16																	30958480		1963	4129	6092	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30958480C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.2014C>T	16.37:g.30958480C>T	ENSP00000369666:p.Arg672Trp					FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.2_5'Flank	p.R672W	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			11	2172	+			672			LRR 6.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.2014C>T	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.24|17.24	3.340376|3.340376	0.60963|0.60963	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.31247	.|1.5;1.5	5.27|5.27	4.23|4.23	0.50019|0.50019	.|.	.|0.101188	.|0.33438	.|N	.|0.004916	T|T	0.41026|0.41026	0.1141|0.1141	L|L	0.27053|0.27053	0.805|0.805	0.38287|0.38287	D|D	0.942589|0.942589	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.982;0.953	T|T	0.45011|0.45011	-0.9290|-0.9290	5|10	.|0.66056	.|D	.|0.02	-11.8157|-11.8157	13.8645|13.8645	0.63581|0.63581	0.2301:0.7699:0.0:0.0|0.2301:0.7699:0.0:0.0	.|.	.|672;629	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	L|W	563|652;672	.|ENSP00000339712:R652W;ENSP00000369666:R672W	.|ENSP00000339712:R652W	P|R	+|+	2|1	0|2	FBXL19|FBXL19	30865981|30865981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.330000|1.330000	0.33781|0.33781	2.456000|2.456000	0.83038|0.83038	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085	
CCDC102A	92922	broad.mit.edu	37	16	57546730	57546730	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:57546730G>A	ENST00000258214.2	-	9	1822	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	526										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCCAAAGCGAGCACTGCGG	0.637																																						uc002elw.2																			0				ovary(1)	1						c.(1576-1578)CGC>TGC		coiled-coil domain containing 102A							88.0	76.0	80.0					16																	57546730		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57546730G>A	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1576C>T	16.37:g.57546730G>A	ENSP00000258214:p.Arg526Cys						p.R526C	NM_033212	NP_149989	Q96A19	C102A_HUMAN			9	1789	-			526					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1576C>T	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.715551	0.89112	.	.	ENSG00000135736	ENST00000258214	T	0.52057	0.68	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.56790	0.2009	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61987	-0.6949	10	0.72032	D	0.01	-19.889	16.223	0.82269	0.0:0.0:1.0:0.0	.	526	Q96A19	C102A_HUMAN	C	526	ENSP00000258214:R526C	ENSP00000258214:R526C	R	-	1	0	CCDC102A	56104231	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	6.216000	0.72212	2.407000	0.81776	0.486000	0.48141	CGC		0.637	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212	
FAM65A	79567	broad.mit.edu	37	16	67578997	67578997	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:67578997G>A	ENST00000379312.3	+	17	3141	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R1022H|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.R1023H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R1017H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R1003H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1007						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCCTGCGCCAGCCAGGC	0.627																																						uc010vjp.1																			0				ovary(2)|central_nervous_system(1)	3						c.(3067-3069)CGC>CAC		hypothetical protein LOC79567							81.0	86.0	84.0					16																	67578997		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67578997G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3020G>A	16.37:g.67578997G>A	ENSP00000368614:p.Arg1007His					FAM65A_uc002eth.2_Missense_Mutation_p.R1003H|FAM65A_uc010cej.2_Missense_Mutation_p.R1006H|FAM65A_uc010vjq.1_Missense_Mutation_p.R1017H|FAM65A_uc002etk.2_Missense_Mutation_p.R1001H	p.R1023H	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	17	3164	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1007					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.3068G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803953	0.50315	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76709	-1.04;-1.04;-1.04	5.44	5.44	0.79542	.	0.232252	0.44483	D	0.000458	T	0.65883	0.2734	L	0.43152	1.355	0.32542	N	0.533556	P;P;P	0.41313	0.745;0.745;0.745	B;B;B	0.32805	0.153;0.153;0.153	T	0.75235	-0.3389	10	0.41790	T	0.15	-15.6178	10.4486	0.44509	0.134:0.0:0.866:0.0	.	1017;1023;1007	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	1007;1003;1023;1017	ENSP00000368614:R1007H;ENSP00000042381:R1003H;ENSP00000400099:R1023H	ENSP00000042381:R1003H	R	+	2	0	FAM65A	66136498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.169000	0.42434	2.567000	0.86603	0.655000	0.94253	CGC		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
PKD1L2	114780	broad.mit.edu	37	16	81236192	81236192	+	RNA	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:81236192G>A	ENST00000525539.1	-	0	1055				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGACAGGCCGGAGCATGCAG	0.582																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1054-1056)TCC>TCT		polycystin 1-like 2 isoform a							60.0	67.0	65.0					16																	81236192		2148	4263	6411			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236192G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236192G>A						PKD1L2_uc002fgj.2_Silent_p.S352S	p.S352S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			6	1056	-			352			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1056C>T																																																																																					0.582	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
SLC7A5	8140	broad.mit.edu	37	16	87873310	87873310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:87873310C>T	ENST00000261622.4	-	5	1002	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	SLC7A5_ENST00000565644.1_Missense_Mutation_p.V47M|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	313					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CGGCTCACCACGGCCACGGCC	0.662																																						uc002fkm.2																			0					0						c.(937-939)GTG>ATG		solute carrier family 7 (cationic amino acid							79.0	65.0	70.0					16																	87873310		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87873310C>T	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.937G>A	16.37:g.87873310C>T	ENSP00000261622:p.Val313Met						p.V313M	NM_003486	NP_003477	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	5	1009	-			313					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.937G>A	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414024	0.83449	.	.	ENSG00000103257	ENST00000261622	D	0.90788	-2.73	5.41	4.44	0.53790	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	.	14.8515	0.70300	0.1449:0.8551:0.0:0.0	.	313	Q01650	LAT1_HUMAN	M	313	ENSP00000261622:V313M	ENSP00000261622:V313M	V	-	1	0	SLC7A5	86430811	1.000000	0.71417	0.988000	0.46212	0.831000	0.47069	7.197000	0.77814	1.404000	0.46819	0.563000	0.77884	GTG		0.662	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486	
RPA1	6117	broad.mit.edu	37	17	1780602	1780602	+	Silent	SNP	C	C	T	rs376851045		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:1780602C>T	ENST00000254719.5	+	8	794	c.684C>T	c.(682-684)gaC>gaT	p.D228D	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	228					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACTGGTTGACGAAAGTGTGA	0.562								Nucleotide excision repair (NER)																														uc002fto.2																			0					0						c.(682-684)GAC>GAT	NER	replication protein A1		T		0,4406		0,0,2203	117.0	89.0	98.0		684	6.1	1.0	17		98	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	RPA1	NM_002945.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/617	1780602	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1780602C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.684C>T	17.37:g.1780602C>T							p.D228D	NM_002945	NP_002936	P27694	RFA1_HUMAN			8	799	+			228					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.684C>T	CCDS11014.1																																																																																				0.562	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945	
PLD2	5338	broad.mit.edu	37	17	4713214	4713214	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:4713214C>T	ENST00000263088.6	+	9	881	c.750C>T	c.(748-750)ctC>ctT	p.L250L	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Silent_p.L250L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	250	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACATGTGCCTCGAGACAGGTG	0.562																																						uc002fzc.2																			0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(748-750)CTC>CTT		phospholipase D2	Choline(DB00122)						195.0	167.0	176.0					17																	4713214		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4713214C>T	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.750C>T	17.37:g.4713214C>T						PLD2_uc010vsj.1_Silent_p.L107L|PLD2_uc002fzd.2_Silent_p.L250L	p.L250L	NM_002663	NP_002654	O14939	PLD2_HUMAN			9	851	+			250			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.750C>T	CCDS11057.1																																																																																				0.562	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
WSCD1	23302	broad.mit.edu	37	17	6023636	6023636	+	Silent	SNP	G	G	A	rs146617432		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:6023636G>A	ENST00000574946.1	+	9	1773	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	WSCD1_ENST00000573634.1_Silent_p.P345P|WSCD1_ENST00000574232.1_Silent_p.P461P|WSCD1_ENST00000317744.5_Silent_p.P461P|WSCD1_ENST00000539421.1_Silent_p.P461P			Q658N2	WSCD1_HUMAN	WSC domain containing 1	461						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.P461P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TAGAGTGGCCGGACTTTGTCA	0.672																																						uc010cli.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(1381-1383)CCG>CCA		WSC domain containing 1		G		0,4406		0,0,2203	127.0	121.0	123.0		1383	-11.1	0.2	17	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WSCD1	NM_015253.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		461/576	6023636	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023636G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1383G>A	17.37:g.6023636G>A						WSCD1_uc002gcn.2_Silent_p.P461P|WSCD1_uc002gco.2_Silent_p.P461P|WSCD1_uc010clj.2_Silent_p.P152P	p.P461P	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			9	1762	+			461					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1383G>A	CCDS32538.1																																																																																				0.672	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
DLG4	1742	broad.mit.edu	37	17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7097030C>T	ENST00000399506.2	-	15	1738	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	DLG4_ENST00000399510.2_Missense_Mutation_p.R559Q|DLG4_ENST00000302955.6_Missense_Mutation_p.R513Q			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	516					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGAGTCTTCTCGACCTGGTGG	0.612																																						uc002get.3																			1	Substitution - Missense(1)		ovary(1)	ovary(1)|breast(1)	2						c.(1675-1677)CGA>CAA		post-synaptic density protein 95 isoform 1							64.0	73.0	70.0					17																	7097030		2007	4176	6183	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7097030C>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1547G>A	17.37:g.7097030C>T	ENSP00000382425:p.Arg516Gln					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.R456Q|DLG4_uc010cly.2_Missense_Mutation_p.R513Q|DLG4_uc010vto.1_Missense_Mutation_p.R556Q	p.R559Q	NM_001365	NP_001356	P78352	DLG4_HUMAN			17	2877	-			516					B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.1676G>A		.	.	.	.	.	.	.	.	.	.	C	12.70	2.017973	0.35606	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	D;D;D	0.82167	-1.58;-1.58;-1.58	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.80549	0.4644	N	0.16368	0.405	0.52099	D	0.999943	B;B;B;D	0.71674	0.003;0.003;0.092;0.998	B;B;B;D	0.79784	0.006;0.006;0.042;0.993	T	0.74312	-0.3706	9	0.12103	T	0.63	.	9.6178	0.39704	0.0:0.908:0.0:0.092	.	556;516;513;559	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	Q	516;513;559;559;456;559	ENSP00000382425:R516Q;ENSP00000307471:R513Q;ENSP00000382428:R559Q	ENSP00000293813:R559Q	R	-	2	0	DLG4	7037754	0.984000	0.35163	1.000000	0.80357	0.974000	0.67602	0.892000	0.28322	2.722000	0.93159	0.655000	0.94253	CGA		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KDM6B	23135	broad.mit.edu	37	17	7752152	7752152	+	Missense_Mutation	SNP	C	C	T	rs376654821		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7752152C>T	ENST00000448097.2	+	11	2877	c.2546C>T	c.(2545-2547)cCg>cTg	p.P849L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P849L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	849	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCGCCCTGCCGCCCACCTCA	0.687																																						uc002giw.1																			0				central_nervous_system(1)|pancreas(1)	2						c.(2545-2547)CCG>CTG		lysine (K)-specific demethylase 6B		C	LEU/PRO	1,4371		0,1,2185	37.0	45.0	42.0		2546	3.5	0.1	17		42	0,8562		0,0,4281	no	missense	KDM6B	NM_001080424.1	98	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	benign	849/1683	7752152	1,12933	2186	4281	6467	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752152C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2546C>T	17.37:g.7752152C>T	ENSP00000412513:p.Pro849Leu					KDM6B_uc002gix.2_Missense_Mutation_p.P151L	p.P849L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			11	2922	+			849			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2546C>T		.	.	.	.	.	.	.	.	.	.	C	2.716	-0.267630	0.05754	2.29E-4	0.0	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.81330	-1.48;-1.48	4.47	3.49	0.39957	.	1.006310	0.07997	N	0.988182	T	0.66297	0.2775	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.019;0.079	B;B	0.14023	0.004;0.01	T	0.57585	-0.7786	10	0.87932	D	0	-1.5994	6.9992	0.24799	0.0:0.7939:0.0:0.2061	.	849;849	O15054;O15054-1	KDM6B_HUMAN;.	L	849	ENSP00000254846:P849L;ENSP00000412513:P849L	ENSP00000254846:P849L	P	+	2	0	KDM6B	7692877	0.095000	0.21747	0.051000	0.19133	0.124000	0.20399	1.606000	0.36826	1.235000	0.43724	0.462000	0.41574	CCG		0.687	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	
LRRC75A	388341	broad.mit.edu	37	17	16347362	16347362	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:16347362C>T	ENST00000470794.1	-	4	602	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|FAM211A_ENST00000409083.3_Silent_p.A153A|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA	NM_001113567.2	NP_001107039.1														lung(1)	1						GCTGGTCACCCGCTCCAGGTC	0.632																																						uc010cph.1																			0					0						c.(574-576)CGG>CAG		hypothetical protein LOC388341 isoform 1							35.0	30.0	32.0					17																	16347362		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16347362C>T																												ENST00000470794.1:c.575G>A	17.37:g.16347362C>T	ENSP00000419502:p.Arg192Gln					C17orf76_uc002gqh.2_Silent_p.A153A|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR	p.R192Q	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	4	751	-			192						Missense_Mutation	SNP	ENST00000470794.1	37	c.575G>A	CCDS45620.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766204	0.90020	.	.	ENSG00000181350	ENST00000470794	T	0.52754	0.65	5.34	4.35	0.52113	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.38539	D	0.949162	D	0.59767	0.986	P	0.47626	0.552	T	0.50866	-0.8777	8	0.44086	T	0.13	.	12.6825	0.56930	0.0:0.9142:0.0:0.0858	.	192	Q8NAA5	CQ076_HUMAN	Q	192	ENSP00000419502:R192Q	ENSP00000419502:R192Q	R	-	2	0	C17orf76	16288087	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.647000	0.67923	2.680000	0.91292	0.561000	0.74099	CGG		0.632	FAM211A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130463.3		
NOS2	4843	broad.mit.edu	37	17	26116655	26116655	+	Missense_Mutation	SNP	G	G	A	rs375397175		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:26116655G>A	ENST00000313735.6	-	3	403	c.170C>T	c.(169-171)cCg>cTg	p.P57L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	57					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GAGGGGCTGCGGGGACTCATT	0.552																																						uc002gzu.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(169-171)CCG>CTG		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G	LEU/PRO	0,4406		0,0,2203	189.0	157.0	168.0		170	-1.3	0.0	17		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOS2	NM_000625.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	57/1154	26116655	1,13005	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116655G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.170C>T	17.37:g.26116655G>A	ENSP00000327251:p.Pro57Leu					NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	p.P57L	NM_000625	NP_000616	P35228	NOS2_HUMAN			3	434	-			57					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.170C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659999	0.29515	0.0	1.16E-4	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01599	4.74	4.79	-1.33	0.09172	.	1.210610	0.05917	N	0.632665	T	0.01421	0.0046	N	0.20685	0.6	0.09310	N	1	B;B	0.19445	0.036;0.01	B;B	0.11329	0.006;0.003	T	0.48269	-0.9050	10	0.46703	T	0.11	.	3.6614	0.08240	0.2693:0.0:0.4433:0.2874	.	57;57	F8WEM3;P35228	.;NOS2_HUMAN	L	57	ENSP00000327251:P57L	ENSP00000305638:P57L	P	-	2	0	NOS2	23140782	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	0.575000	0.23729	-0.040000	0.13580	-0.391000	0.06502	CCG		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
SRCIN1	80725	broad.mit.edu	37	17	36704805	36704805	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:36704805G>A	ENST00000264659.7	-	17	3482	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	SRCIN1_ENST00000578925.1_Silent_p.I1120I|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	958					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTAGCTCTGCGATGATGCGAT	0.667																																						uc002hqd.2																			0					0						c.(3256-3258)ATC>ATT		SNAP25-interacting protein							89.0	91.0	91.0					17																	36704805		2095	4200	6295	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36704805G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3258C>T	17.37:g.36704805G>A						SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	p.I1086I	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			17	3483	-			958	I -> L (in Ref. 6; AA sequence).				Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.3258C>T	CCDS45660.1																																																																																				0.667	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						uc002hvz.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(142-144)AGC>AGG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	183	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
LEPREL4	10609	broad.mit.edu	37	17	39966036	39966036	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:39966036T>C	ENST00000355468.3	-	5	1304	c.838A>G	c.(838-840)Acc>Gcc	p.T280A	LEPREL4_ENST00000393928.1_Missense_Mutation_p.T280A			Q92791	SC65_HUMAN	leprecan-like 4	280					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACATTGGGGGTCAAATTGGCC	0.562																																						uc002hxt.2																			0					0						c.(838-840)ACC>GCC		synaptonemal complex protein SC65							101.0	86.0	91.0					17																	39966036		2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39966036T>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.838A>G	17.37:g.39966036T>C	ENSP00000347649:p.Thr280Ala					FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.T371A	p.T280A	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	4	1122	-		Breast(137;0.000162)	280					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.838A>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183213	0.38511	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.25579	1.79;1.79	5.58	4.46	0.54185	.	0.160793	0.56097	D	0.000034	T	0.14184	0.0343	N	0.16037	0.36	0.38659	D	0.952031	P;P	0.49559	0.925;0.925	P;B	0.44561	0.453;0.359	T	0.06607	-1.0817	10	0.02654	T	1	-34.9329	11.8289	0.52283	0.0:0.0:0.1459:0.8541	.	269;280	B4DVZ5;Q92791	.;SC65_HUMAN	A	280;280;269	ENSP00000347649:T280A;ENSP00000377505:T280A	ENSP00000347649:T280A	T	-	1	0	LEPREL4	37219562	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.845000	0.86875	2.130000	0.65690	0.528000	0.53228	ACC		0.562	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2		
BRCA1	672	broad.mit.edu	37	17	41243940	41243940	+	Missense_Mutation	SNP	C	C	T	rs55930959		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:41243940C>T	ENST00000357654.3	-	10	3726	c.3608G>A	c.(3607-3609)cGa>cAa	p.R1203Q	BRCA1_ENST00000493795.1_Missense_Mutation_p.R1156Q|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R1203Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.R1203Q|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1203Q|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R907Q|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1203					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCCCTCTTCGGTAACCCTG	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CM042676	BRCA1	M	rs55930959	c.(3607-3609)CGA>CAA	Homologous_recombination	breast cancer 1, early onset isoform 1							59.0	54.0	56.0					17																	41243940		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41243940C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3608G>A	17.37:g.41243940C>T	ENSP00000350283:p.Arg1203Gln	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.2_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	p.R1203Q	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3840	-		Breast(137;0.000717)	1203					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3608G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.907301	0.00512	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.1	-7.96	0.01144	.	0.685267	0.13461	N	0.386105	T	0.27765	0.0683	N	0.00595	-1.35	0.09310	N	1	B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0;0.0	T	0.48198	-0.9056	10	0.02654	T	1	.	7.4264	0.27102	0.1114:0.5947:0.1127:0.1811	rs55930959	1203;1162;1203;1203;1203;1203	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	1203;1203;1203;1203;907;1203;1156	ENSP00000350283:R1203Q;ENSP00000326002:R1203Q;ENSP00000246907:R1203Q;ENSP00000310938:R907Q;ENSP00000418960:R1203Q;ENSP00000418775:R1156Q	ENSP00000310938:R907Q	R	-	2	0	BRCA1	38497466	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.155000	0.10115	-1.621000	0.01562	-2.100000	0.00362	CGA		0.433	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
MYCBPAP	84073	broad.mit.edu	37	17	48597088	48597088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:48597088C>T	ENST00000323776.5	+	7	1147	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R292C	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAAACTCAGCGTGGCCTCAT	0.562																																						uc010wmr.1																			0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(985-987)CGT>TGT		Myc-binding protein-associated protein							93.0	78.0	83.0					17																	48597088		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48597088C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.985C>T	17.37:g.48597088C>T	ENSP00000323184:p.Arg329Cys					MYCBPAP_uc002iqx.2_Missense_Mutation_p.R329C|MYCBPAP_uc002iqz.2_RNA	p.R329C	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		7	1147	+	Breast(11;1.23e-18)		292						Missense_Mutation	SNP	ENST00000323776.5	37	c.985C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871758	0.33069	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.51574	0.7;0.7	5.45	3.47	0.39725	.	0.118680	0.56097	D	0.000036	T	0.40473	0.1118	L	0.52905	1.665	0.49798	D	0.999829	B;B	0.29805	0.12;0.257	B;B	0.22880	0.042;0.042	T	0.30208	-0.9986	10	0.49607	T	0.09	-1.2679	11.2799	0.49188	0.0:0.7946:0.0:0.2054	.	292;329	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	C	329;292	ENSP00000323184:R329C;ENSP00000397209:R292C	ENSP00000323184:R329C	R	+	1	0	MYCBPAP	45952087	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	0.966000	0.29331	0.786000	0.33708	-0.244000	0.11960	CGT		0.562	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
Unknown	0	broad.mit.edu	37	17	58179869	58179869	+	IGR	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:58179869C>T								CTD-2319I12.1 (10623 upstream) : CTD-2319I12.4 (24026 downstream)																							CTTCAGATCTCGCCACTCAAG	0.388																																						uc010wot.1																			0					0						c.(295-297)CGA>CAA		adaptor-related protein complex 1 sigma 2																																				SO:0001628	intergenic_variant	653653							g.chr17:58179869C>T																													17.37:g.58179869C>T							p.R99Q	NM_003916	NP_003907					1	412	-									Missense_Mutation	SNP		37	c.296G>A																																																																																				0	0.388								
AMZ2	51321	broad.mit.edu	37	17	66246475	66246475	+	Silent	SNP	A	A	G	rs138991707		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:66246475A>G	ENST00000359904.3	+	2	1279	c.147A>G	c.(145-147)ggA>ggG	p.G49G	RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000392720.2_Silent_p.G49G|AMZ2_ENST00000577985.1_Silent_p.G49G|AMZ2_ENST00000359783.4_Silent_p.G49G|AMZ2_ENST00000577866.1_Silent_p.G49G|AMZ2_ENST00000577273.1_Silent_p.G49G|AMZ2_ENST00000580753.1_Silent_p.G49G|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	49							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCTTTGGACCCATTACCT	0.458																																						uc002jgs.1																			0					0						c.(145-147)GGA>GGG		archaemetzincins-2 isoform 1							136.0	126.0	129.0					17																	66246475		2203	4300	6503	SO:0001819	synonymous_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66246475A>G	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.147A>G	17.37:g.66246475A>G						AMZ2_uc002jgr.1_Silent_p.G49G|AMZ2_uc002jgt.1_Silent_p.G49G|AMZ2_uc002jgu.1_Silent_p.G49G|AMZ2_uc002jgv.1_Silent_p.G49G|AMZ2_uc002jgw.1_Silent_p.G49G|AMZ2_uc002jgx.1_Silent_p.G49G|AMZ2_uc002jgy.1_Silent_p.G49G	p.G49G	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	264	+	all_cancers(12;1.12e-09)		49					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Silent	SNP	ENST00000359904.3	37	c.147A>G	CCDS11674.1																																																																																				0.458	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	
QRICH2	84074	broad.mit.edu	37	17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74287140C>T	ENST00000262765.5	-	4	3349	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1057										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532																																						uc002jrd.1																			0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3169-3171)GGC>GAC		glutamine rich 2							104.0	98.0	100.0					17																	74287140		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287140C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3170G>A	17.37:g.74287140C>T	ENSP00000262765:p.Gly1057Asp					QRICH2_uc010wsz.1_Missense_Mutation_p.G983D|QRICH2_uc010dgw.1_Intron	p.G1057D	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	3350	-			1057					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.3170G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530042	0.64860	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.50001	2.86;0.76	5.73	5.73	0.89815	.	.	.	.	.	T	0.53498	0.1800	N	0.20986	0.625	0.30470	N	0.773393	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.966	T	0.54043	-0.8352	9	0.51188	T	0.08	-8.9966	10.8835	0.46953	0.0:0.9145:0.0:0.0855	.	1057;1057	B5MD94;Q9H0J4	.;QRIC2_HUMAN	D	1057;65;1057	ENSP00000262765:G1057D;ENSP00000394461:G65D	ENSP00000262765:G1057D	G	-	2	0	QRICH2	71798735	0.059000	0.20769	0.615000	0.29064	0.014000	0.08584	1.025000	0.30090	2.712000	0.92718	0.555000	0.69702	GGC		0.532	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
UBE2O	63893	broad.mit.edu	37	17	74395033	74395033	+	Silent	SNP	G	G	A	rs184947149	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74395033G>A	ENST00000319380.7	-	10	1732	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	556					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCCACATCACGTCGGCTGAGG	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19435	0.0		0.0	False		,,,				2504	0.0					uc002jrm.3																			0				breast(2)|skin(2)|lung(1)	5						c.(1666-1668)GAC>GAT		ubiquitin-conjugating enzyme E2O							126.0	94.0	105.0					17																	74395033		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74395033G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1668C>T	17.37:g.74395033G>A						UBE2O_uc002jrn.3_Silent_p.D556D|UBE2O_uc002jrl.3_Silent_p.D159D	p.D556D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			10	1733	-			556					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.1668C>T	CCDS32742.1																																																																																				0.627	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066	
AATK	9625	broad.mit.edu	37	17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A	rs368177200		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79094804G>A	ENST00000326724.4	-	11	2956	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	AATK_ENST00000417379.1_Missense_Mutation_p.R875W	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652																																						uc010dia.2																			0				stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(2932-2934)CGG>TGG		apoptosis-associated tyrosine kinase		G	TRP/ARG,TRP/ARG	0,3818		0,0,1909	20.0	24.0	23.0		2932,2623	2.5	0.0	17		23	1,8209		0,1,4104	no	missense,missense	AATK	NM_001080395.2,NM_004920.2	101,101	0,1,6013	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	978/1375,875/1272	79094804	1,12027	1909	4105	6014	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094804G>A	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2932C>T	17.37:g.79094804G>A	ENSP00000324196:p.Arg978Trp					AATK_uc010dhz.2_Intron	p.R978W	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3012	-	all_neural(118;0.101)		978					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.2932C>T	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770502	0.31320	0.0	1.22E-4	ENSG00000181409	ENST00000326724	T	0.78924	-1.22	4.67	2.52	0.30459	.	2.165000	0.02003	N	0.046413	T	0.76933	0.4057	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	B	0.43575	0.424	T	0.64728	-0.6339	10	0.52906	T	0.07	.	9.855	0.41079	0.0:0.131:0.606:0.263	.	978	Q6ZMQ8	LMTK1_HUMAN	W	978	ENSP00000324196:R978W	ENSP00000324196:R978W	R	-	1	2	AATK	76709399	0.000000	0.05858	0.036000	0.18154	0.160000	0.22226	0.402000	0.20965	1.155000	0.42497	0.462000	0.41574	CGG		0.652	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920	
NPLOC4	55666	broad.mit.edu	37	17	79556036	79556036	+	Silent	SNP	G	G	A	rs372434085		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79556036G>A	ENST00000331134.6	-	12	1430	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	NPLOC4_ENST00000539314.1_Silent_p.D244D|NPLOC4_ENST00000374747.5_Silent_p.D405D	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	405					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCGGGGCGTCCTTGCATG	0.493																																						uc002kat.3																			0				ovary(1)|central_nervous_system(1)	2						c.(1213-1215)GAC>GAT		nuclear protein localization 4		G		0,4146		0,0,2073	95.0	99.0	98.0		1215	-10.3	0.5	17		98	1,8443		0,1,4221	no	coding-synonymous	NPLOC4	NM_017921.2		0,1,6294	AA,AG,GG		0.0118,0.0,0.0079		405/609	79556036	1,12589	2073	4222	6295	SO:0001819	synonymous_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79556036G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1215C>T	17.37:g.79556036G>A						NPLOC4_uc002kau.3_Silent_p.D405D|NPLOC4_uc010wur.1_Silent_p.D244D	p.D405D	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		12	1397	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		405					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	c.1215C>T	CCDS45812.1																																																																																				0.493	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1		
ARHGDIA	396	broad.mit.edu	37	17	79826780	79826780	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79826780A>C	ENST00000269321.7	-	6	722	c.587T>G	c.(586-588)cTc>cGc	p.L196R	ARHGDIA_ENST00000541078.2_Missense_Mutation_p.L196R|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.L196R|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.L152R|ARHGDIA_ENST00000584461.1_Intron|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.L121R|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	196					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTGATGGTGAGATTCCACTC	0.642																																						uc002kbp.2																			0					0						c.(586-588)CTC>CGC		Rho GDP dissociation inhibitor (GDI) alpha							89.0	78.0	81.0					17																	79826780		2203	4300	6503	SO:0001583	missense	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826780A>C	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.587T>G	17.37:g.79826780A>C	ENSP00000269321:p.Leu196Arg					ARHGDIA_uc002kjk.1_Missense_Mutation_p.L71R|ARHGDIA_uc002kbq.2_Missense_Mutation_p.L196R|ARHGDIA_uc002kbr.2_Missense_Mutation_p.S169A|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Intron	p.L196R	NM_004309	NP_004300	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	626	-	all_neural(118;0.0878)|Ovarian(332;0.12)		196					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	37	c.587T>G	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810749	0.90707	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.44	4.44	0.53790	Immunoglobulin E-set (1);	0.145893	0.47455	D	0.000230	T	0.80919	0.4716	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84852	0.0814	9	0.87932	D	0	-32.4548	13.8536	0.63513	1.0:0.0:0.0:0.0	.	196	P52565	GDIR1_HUMAN	R	196;196;170	.	ENSP00000269321:L196R	L	-	2	0	ARHGDIA	77420069	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.485000	0.90448	1.848000	0.53677	0.460000	0.39030	CTC		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309	
MC2R	4158	broad.mit.edu	37	18	13885086	13885086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:13885086C>T	ENST00000327606.3	-	2	612	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	144					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGTGCGGCGCATGGTCACGA	0.577																																					Colon(141;1584 1782 35999 48227 48692)	uc002ksp.1																			0				ovary(4)|skin(1)	5						c.(430-432)ATG>ATA		melanocortin 2 receptor	Corticotropin(DB01285)|Cosyntropin(DB01284)						119.0	94.0	102.0					18																	13885086		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885086C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.432G>A	18.37:g.13885086C>T	ENSP00000333821:p.Met144Ile						p.M144I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN			2	609	-			144			Cytoplasmic (By similarity).		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.432G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694006	0.48202	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.71461	-0.57	5.28	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.294995	0.40818	N	0.001011	T	0.61286	0.2335	L	0.38692	1.165	0.33380	D	0.574678	B	0.24092	0.097	B	0.30716	0.119	T	0.67684	-0.5607	10	0.52906	T	0.07	.	9.2384	0.37481	0.0:0.7738:0.0:0.2262	.	144	Q01718	ACTHR_HUMAN	I	144	ENSP00000333821:M144I	ENSP00000333821:M144I	M	-	3	0	MC2R	13875086	0.930000	0.31532	0.998000	0.56505	0.888000	0.51559	1.300000	0.33436	1.228000	0.43614	0.655000	0.94253	ATG		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
NPC1	4864	broad.mit.edu	37	18	21119357	21119357	+	Missense_Mutation	SNP	C	C	T	rs120074132		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119357C>T	ENST00000269228.5	-	19	3427	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NPC1_ENST00000412552.2_Missense_Mutation_p.R640Q|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	958			R -> L (in NPC1). {ECO:0000269|PubMed:11754101}.|R -> Q (in NPC1). {ECO:0000269|PubMed:11349231}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGTCCACTCGACAGCAAGA	0.448																																						uc002kum.3																			0				ovary(2)	2	GRCh37	CM015186|CM020045	NPC1	M	rs120074132	c.(2872-2874)CGA>CAA		Niemann-Pick disease, type C1 precursor		C	GLN/ARG	0,4406		0,0,2203	81.0	75.0	77.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2873	5.2	0.0	18	dbSNP_132	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPC1	NM_000271.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	958/1279	21119357	1,13005	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21119357C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2873G>A	18.37:g.21119357C>T	ENSP00000269228:p.Arg958Gln					NPC1_uc010xaz.1_Missense_Mutation_p.R691Q	p.R958Q	NM_000271	NP_000262	O15118	NPC1_HUMAN			19	3147	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		958		R -> L (in NPC1).|R -> Q (in NPC1).			B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2873G>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025723	0.75390	0.0	1.16E-4	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.94000	-3.33;-3.33	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.92459	3.31	0.80722	A	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.96;0.975	D	0.96531	0.9393	9	0.28530	T	0.3	-17.6819	19.2096	0.93748	0.0:1.0:0.0:0.0	.	969;958	Q59GR1;O15118	.;NPC1_HUMAN	Q	958;640	ENSP00000269228:R958Q;ENSP00000408606:R640Q	ENSP00000269228:R958Q	R	-	2	0	NPC1	19373355	1.000000	0.71417	0.011000	0.14972	0.008000	0.06430	7.682000	0.84083	2.604000	0.88044	0.655000	0.94253	CGA		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
NPC1	4864	broad.mit.edu	37	18	21119839	21119839	+	Missense_Mutation	SNP	C	C	T	rs34302553	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119839C>T	ENST00000269228.5	-	18	3285	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	NPC1_ENST00000412552.2_Missense_Mutation_p.G593S|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	911					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGCCCATGCCGCCGCACACC	0.547													C|||	13	0.00259585	0.0091	0.0	5008	,	,		18216	0.0		0.001	False		,,,				2504	0.0					uc002kum.3																			0				ovary(2)	2						c.(2731-2733)GGC>AGC		Niemann-Pick disease, type C1 precursor		C	SER/GLY	59,4347	56.8+/-93.2	1,57,2145	92.0	87.0	88.0		2731	5.5	1.0	18	dbSNP_126	88	4,8596	3.7+/-12.6	0,4,4296	yes	missense	NPC1	NM_000271.4	56	1,61,6441	TT,TC,CC		0.0465,1.3391,0.4844	benign	911/1279	21119839	63,12943	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21119839C>T	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2731G>A	18.37:g.21119839C>T	ENSP00000269228:p.Gly911Ser					NPC1_uc010xaz.1_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	p.G911S	NM_000271	NP_000262	O15118	NPC1_HUMAN			18	3005	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		911					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2731G>A	CCDS11878.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.300247	0.95574	0.013391	4.65E-4	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.93604	-3.25;-3.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	L	0.37507	1.11	0.80722	D	1	P;P	0.48016	0.873;0.904	B;B	0.38954	0.252;0.286	D	0.86630	0.1885	10	0.25106	T	0.35	-33.0786	19.7885	0.96447	0.0:1.0:0.0:0.0	rs34302553	922;911	Q59GR1;O15118	.;NPC1_HUMAN	S	911;593;756	ENSP00000269228:G911S;ENSP00000408606:G593S	ENSP00000269228:G911S	G	-	1	0	NPC1	19373837	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	7.771000	0.85420	2.752000	0.94435	0.655000	0.94253	GGC		0.547	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
NPC1	4864	broad.mit.edu	37	18	21136387	21136387	+	Silent	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21136387T>C	ENST00000269228.5	-	8	1700	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	NPC1_ENST00000412552.2_Silent_p.S132S|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	382					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTGGGGGCTGACCAGAGGT	0.567																																						uc002kum.3																			0				ovary(2)	2						c.(1144-1146)TCA>TCG		Niemann-Pick disease, type C1 precursor							50.0	51.0	50.0					18																	21136387		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136387T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1146A>G	18.37:g.21136387T>C						NPC1_uc010xaz.1_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	p.S382S	NM_000271	NP_000262	O15118	NPC1_HUMAN			8	1420	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		382					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.1146A>G	CCDS11878.1																																																																																				0.567	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
DSG1	1828	broad.mit.edu	37	18	28908192	28908192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:28908192G>A	ENST00000257192.4	+	4	469	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|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)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.R86H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTACATACCGCATCTCTGGA	0.373																																						uc002kwp.2																			1	Substitution - Missense(1)		large_intestine(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(256-258)CGC>CAC		desmoglein 1 preproprotein							96.0	93.0	94.0					18																	28908192		2203	4299	6502	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28908192G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.257G>A	18.37:g.28908192G>A	ENSP00000257192:p.Arg86His						p.R86H	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		4	469	+			86			Extracellular (Potential).|Cadherin 1.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.257G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138491	0.77775	.	.	ENSG00000134760	ENST00000257192	T	0.53640	0.61	5.59	4.72	0.59763	Cadherin (4);Cadherin-like (1);	0.309404	0.28595	N	0.014796	T	0.43590	0.1254	L	0.43152	1.355	0.80722	D	1	P	0.47910	0.902	P	0.45406	0.479	T	0.39187	-0.9626	10	0.54805	T	0.06	.	9.8534	0.41070	0.0732:0.1397:0.7871:0.0	.	86	Q02413	DSG1_HUMAN	H	86	ENSP00000257192:R86H	ENSP00000257192:R86H	R	+	2	0	DSG1	27162190	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.536000	0.45693	1.357000	0.45904	0.563000	0.77884	CGC		0.373	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
TRAPPC8	22878	broad.mit.edu	37	18	29447379	29447379	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:29447379C>T	ENST00000283351.4	-	17	2784	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E763K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	817					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.E817K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGATTCTTCGCCATTAATT	0.259																																						uc002kxc.3																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(2449-2451)GAA>AAA		hypothetical protein LOC22878							47.0	49.0	49.0					18																	29447379		2201	4284	6485	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29447379C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2449G>A	18.37:g.29447379C>T	ENSP00000283351:p.Glu817Lys					KIAA1012_uc002kxb.3_Missense_Mutation_p.E763K|KIAA1012_uc002kxd.3_RNA	p.E817K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			17	2813	-			817					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.2449G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698095	0.48307	.	.	ENSG00000153339	ENST00000283351	T	0.09073	3.02	5.49	5.49	0.81192	.	0.047167	0.85682	D	0.000000	T	0.08670	0.0215	M	0.65975	2.015	0.80722	D	1	P	0.44429	0.835	B	0.28465	0.09	T	0.29458	-1.0011	10	0.06494	T	0.89	.	18.9582	0.92668	0.0:1.0:0.0:0.0	.	817	Q9Y2L5	TPPC8_HUMAN	K	817	ENSP00000283351:E817K	ENSP00000283351:E817K	E	-	1	0	TRAPPC8	27701377	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.926000	0.70070	2.587000	0.87381	0.585000	0.79938	GAA		0.259	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
RNF165	494470	broad.mit.edu	37	18	44036518	44036518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44036518C>T	ENST00000269439.7	+	8	1011	c.960C>T	c.(958-960)tgC>tgT	p.C320C	RNF165_ENST00000543885.1_Silent_p.C128C	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	320							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACCAACTGTGCGTGGACCAGT	0.587																																						uc002lcb.1																			0					0						c.(958-960)TGC>TGT		ring finger protein 165							121.0	112.0	115.0					18																	44036518		2203	4300	6503	SO:0001819	synonymous_variant	494470						zinc ion binding	g.chr18:44036518C>T	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.960C>T	18.37:g.44036518C>T						RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	p.C320C	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	8	1011	+			320			RING-type; atypical.		B3KVD1	Silent	SNP	ENST00000269439.7	37	c.960C>T	CCDS32823.1																																																																																				0.587	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	
TCEB3C	162699	broad.mit.edu	37	18	44554670	44554670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44554670G>A	ENST00000330682.2	-	1	1779	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTccgcgggcgccgcgtgccg	0.672																																						uc010xdb.1																			0					0						c.(1543-1545)GCG>GTG		transcription elongation factor B polypeptide							2.0	1.0	1.0					18																	44554670		463	889	1352	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554670G>A	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1544C>T	18.37:g.44554670G>A	ENSP00000328232:p.Ala515Val					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A515V	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1780	-			515						Missense_Mutation	SNP	ENST00000330682.2	37	c.1544C>T	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	11.13	1.546973	0.27652	.	.	ENSG00000183791	ENST00000330682	T	0.13778	2.56	1.55	-0.338	0.12651	.	15.382800	0.00760	U	0.001137	T	0.10121	0.0248	L	0.27053	0.805	0.09310	N	1	B	0.21071	0.051	B	0.04013	0.001	T	0.24764	-1.0151	10	0.35671	T	0.21	-4.9544	4.5184	0.11947	0.3824:0.0:0.6176:0.0	.	515	Q8NG57	ELOA3_HUMAN	V	515	ENSP00000328232:A515V	ENSP00000328232:A515V	A	-	2	0	TCEB3C	42808668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.389000	0.02530	-0.145000	0.11294	-0.663000	0.03849	GCG		0.672	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653	
MAPK4	5596	broad.mit.edu	37	18	48252336	48252336	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:48252336C>T	ENST00000400384.2	+	5	1894	c.858C>T	c.(856-858)atC>atT	p.I286I	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I75I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCAGCCATCGACTTTCTGG	0.542																																						uc002lev.2																			0				lung(4)|skin(2)	6						c.(856-858)ATC>ATT		mitogen-activated protein kinase 4							106.0	111.0	110.0					18																	48252336		1997	4170	6167	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252336C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.858C>T	18.37:g.48252336C>T						MAPK4_uc010xdm.1_Silent_p.I75I|MAPK4_uc010doz.2_Intron	p.I286I	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1858	+		Colorectal(6;0.0297)	286			Protein kinase.		A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.858C>T	CCDS42437.1																																																																																				0.542	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747	
KCNG2	26251	broad.mit.edu	37	18	77624216	77624216	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:77624216C>T	ENST00000316249.3	+	1	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	183					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCGTGTCCGTGTCCTTCG	0.766																																						uc010xfl.1																			0					0						c.(547-549)TCC>TCT		potassium voltage-gated channel, subfamily G,							17.0	16.0	16.0					18																	77624216		1955	3928	5883	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624216C>T	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.549C>T	18.37:g.77624216C>T							p.S183S	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	549	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	183			Helical; Name=Segment S1; (Potential).			Silent	SNP	ENST00000316249.3	37	c.549C>T	CCDS12019.1																																																																																				0.766	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
PLPPR3	79948	broad.mit.edu	37	19	813085	813085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:813085C>T	ENST00000520876.3	-	8	1720	c.1642G>A	c.(1642-1644)Gcg>Acg	p.A548T	LPPR3_ENST00000359894.2_Missense_Mutation_p.A576T|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		548						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										GGGCCCGGCGCGCCCGGAGCC	0.726																																						uc002lpx.1																			0					0						c.(1642-1644)GCG>ACG		plasticity-related protein 2							3.0	4.0	4.0					19																	813085		1545	3386	4931	SO:0001583	missense	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:813085C>T																												ENST00000520876.3:c.1642G>A	19.37:g.813085C>T	ENSP00000430297:p.Ala548Thr					LPPR3_uc010dru.1_Intron|LPPR3_uc002lpw.1_Missense_Mutation_p.A576T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|hsa-mir-3187|MI0014231_5'Flank	p.A548T	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN			8	1706	-			548					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.1642G>A	CCDS58636.1	.	.	.	.	.	.	.	.	.	.	c	5.586	0.292898	0.10567	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876	T;T	0.22945	1.93;1.93	4.09	1.73	0.24493	.	1.813570	0.03633	U	0.238190	T	0.12178	0.0296	N	0.08118	0	0.09310	N	0.999999	B;P	0.39696	0.226;0.683	B;B	0.27887	0.043;0.084	T	0.17289	-1.0374	10	0.40728	T	0.16	-19.361	8.6337	0.33935	0.0:0.7487:0.1559:0.0954	.	548;576	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	T	549;576;548	ENSP00000352962:A576T;ENSP00000430297:A548T	ENSP00000300947:A549T	A	-	1	0	AC006273.1	764085	0.000000	0.05858	0.264000	0.24511	0.473000	0.32948	-0.029000	0.12329	1.835000	0.53391	0.282000	0.19409	GCG		0.726	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3		
MLLT1	4298	broad.mit.edu	37	19	6222504	6222504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:6222504C>T	ENST00000252674.7	-	6	901	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	246					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CAGCCTTGGGCGGTGGCGCCT	0.672			T	MLL	AL																																	uc002mek.2				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(736-738)CCG>CCA		myeloid/lymphoid or mixed-lineage leukemia							29.0	29.0	29.0					19																	6222504		2202	4300	6502	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222504C>T		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.738G>A	19.37:g.6222504C>T							p.P246P	NM_005934	NP_005925	Q03111	ENL_HUMAN			6	902	-			246					Q14768	Silent	SNP	ENST00000252674.7	37	c.738G>A	CCDS12160.1																																																																																				0.672	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934	
MUC16	94025	broad.mit.edu	37	19	9008202	9008202	+	Missense_Mutation	SNP	G	G	A	rs545351585		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:9008202G>A	ENST00000397910.4	-	41	39553	c.39350C>T	c.(39349-39351)aCc>aTc	p.T13117I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13119	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGGTCCAGGGTGTAGGGGCC	0.547																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39349-39351)ACC>ATC		mucin 16							209.0	191.0	197.0					19																	9008202		2022	4186	6208	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008202G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39350C>T	19.37:g.9008202G>A	ENSP00000381008:p.Thr13117Ile					MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.T13117I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			41	39554	-			13119			Extracellular (Potential).|SEA 7.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39350C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213348	0.22289	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.18502	2.21	1.82	-0.668	0.11392	.	.	.	.	.	T	0.18173	0.0436	M	0.79693	2.465	.	.	.	P	0.38370	0.628	B	0.36244	0.22	T	0.21008	-1.0258	8	0.87932	D	0	.	2.928	0.05791	0.1979:0.2961:0.506:0.0	.	13117	B5ME49	.	I	13117;270	ENSP00000381008:T13117I	ENSP00000381008:T13117I	T	-	2	0	MUC16	8869202	0.212000	0.23540	0.246000	0.24233	0.034000	0.12701	0.243000	0.18106	-0.092000	0.12417	0.195000	0.17529	ACC		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
DNM2	1785	broad.mit.edu	37	19	10886407	10886407	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:10886407G>A	ENST00000355667.6	+	4	494	c.414G>A	c.(412-414)ccG>ccA	p.P138P	DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_Silent_p.P138P|DNM2_ENST00000389253.4_Silent_p.P138P|DNM2_ENST00000359692.6_Silent_p.P138P|DNM2_ENST00000314646.5_Silent_p.P138P|DNM2_ENST00000408974.4_Silent_p.P138P	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	138	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGACCTCCCGGGTATCACCA	0.587			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1				Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(412-414)CCG>CCA		dynamin 2 isoform 2							208.0	208.0	208.0					19																	10886407		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10886407G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.414G>A	19.37:g.10886407G>A						DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.P138P|DNM2_uc002mpv.1_Silent_p.P138P|DNM2_uc002mpu.1_Silent_p.P138P|DNM2_uc010dxl.1_Silent_p.P138P	p.P138P	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		4	578	+			138			GTP (By similarity).		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.414G>A	CCDS45968.1																																																																																				0.587	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
CARM1	10498	broad.mit.edu	37	19	11018751	11018751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:11018751G>A	ENST00000327064.4	+	3	573	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CARM1_ENST00000344150.4_Missense_Mutation_p.R128Q	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	128					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AAAACCTGCCGGGGCCACACC	0.617																																						uc002mpz.2																			0					0						c.(382-384)CGG>CAG		coactivator-associated arginine							120.0	116.0	117.0					19																	11018751		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11018751G>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.383G>A	19.37:g.11018751G>A	ENSP00000325690:p.Arg128Gln					CARM1_uc010dxn.2_RNA	p.R128Q	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			3	509	+			128					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.383G>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828613	0.71258	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.26810	1.72;1.71	5.43	4.4	0.53042	Histone-arginine methyltransferase CARM1, N-terminal (1);	0.062930	0.64402	D	0.000003	T	0.14743	0.0356	N	0.17082	0.46	0.54753	D	0.999989	B	0.34329	0.449	B	0.28553	0.091	T	0.08289	-1.0729	10	0.27785	T	0.31	-4.7855	13.3439	0.60561	0.078:0.0:0.922:0.0	.	128	Q86X55	CARM1_HUMAN	Q	128	ENSP00000325690:R128Q;ENSP00000340934:R128Q	ENSP00000325690:R128Q	R	+	2	0	CARM1	10879751	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.903000	0.69877	1.424000	0.47217	0.563000	0.77884	CGG		0.617	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719	
MAST1	22983	broad.mit.edu	37	19	12975736	12975736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:12975736G>A	ENST00000251472.4	+	13	1519	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTATGGCATCGTGCACCGCGA	0.572																																						uc002mvm.2																			0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1480-1482)GTG>ATG		microtubule associated serine/threonine kinase							148.0	133.0	138.0					19																	12975736		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975736G>A	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1480G>A	19.37:g.12975736G>A	ENSP00000251472:p.Val494Met						p.V494M	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			13	1608	+			494			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1480G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448600	0.84101	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.29655	1.56	4.39	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.51449	0.1675	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55496	-0.8132	10	0.87932	D	0	-27.1966	14.8264	0.70117	0.0:0.0:1.0:0.0	.	494	Q9Y2H9	MAST1_HUMAN	M	494	ENSP00000251472:V494M	ENSP00000251472:V494M	V	+	1	0	MAST1	12836736	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.181000	0.69327	0.561000	0.74099	GTG		0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
TRMT1	55621	broad.mit.edu	37	19	13216154	13216154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:13216154C>T	ENST00000592062.1	-	17	2330	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	TRMT1_ENST00000221504.8_Missense_Mutation_p.R558Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.R587Q|LYL1_ENST00000264824.4_5'Flank|TRMT1_ENST00000357720.4_Missense_Mutation_p.R587Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	587							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGCTCCTTCCGCTTGTTCTG	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mwj.2																			0				ovary(1)|pancreas(1)	2						c.(1759-1761)CGG>CAG		tRNA methyltransferase 1 isoform 1							52.0	56.0	55.0					19																	13216154		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13216154C>T	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1760G>A	19.37:g.13216154C>T	ENSP00000466967:p.Arg587Gln		OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	685	LYL1_uc002mwi.2_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	p.R587Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	15	2010	-			587					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.1760G>A	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883332	0.51908	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	L	0.60455	1.87	0.41941	D	0.990612	D;P	0.58970	0.984;0.809	P;B	0.47118	0.538;0.184	T	0.63690	-0.6580	9	0.45353	T	0.12	-18.2733	14.4501	0.67379	0.0:1.0:0.0:0.0	.	558;587	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	587;587;558	.	ENSP00000221504:R558Q	R	-	2	0	TRMT1	13077154	0.997000	0.39634	0.946000	0.38457	0.064000	0.16182	6.417000	0.73337	2.264000	0.75181	0.462000	0.41574	CGG		0.622	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	
IL27RA	9466	broad.mit.edu	37	19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T	rs201794701		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:14150709C>T	ENST00000263379.2	+	4	646	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	174	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCAGGAGGCGGCCTGGACC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15701	0.001		0.0	False		,,,				2504	0.0				Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2																			0					0						c.(520-522)GCG>GTG		class I cytokine receptor precursor		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	96.0	93.0	94.0		521	-8.1	0.0	19		94	0,8600		0,0,4300	no	missense	IL27RA	NM_004843.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	174/637	14150709	1,13005	2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150709C>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.521C>T	19.37:g.14150709C>T	ENSP00000263379:p.Ala174Val						p.A174V	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			4	944	+			174			Extracellular (Potential).|Fibronectin type-III 1.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.521C>T	CCDS12303.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.394	0.257867	0.10239	2.27E-4	0.0	ENSG00000104998	ENST00000263379	T	0.56103	0.48	4.04	-8.09	0.01090	Fibronectin, type III (3);Immunoglobulin-like fold (1);	3.465760	0.00896	N	0.002286	T	0.24586	0.0596	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	10	0.22706	T	0.39	-3.4515	6.2433	0.20803	0.2989:0.5213:0.0804:0.0994	.	174	Q6UWB1	I27RA_HUMAN	V	174	ENSP00000263379:A174V	ENSP00000263379:A174V	A	+	2	0	IL27RA	14011709	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-3.123000	0.00594	-3.695000	0.00119	-0.474000	0.04947	GCG		0.592	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843	
SLC27A1	376497	broad.mit.edu	37	19	17612106	17612106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:17612106C>T	ENST00000252595.7	+	11	1758	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A554V|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A375V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	554					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGGGATGGCGGCCGTCGCA	0.647																																						uc002ngu.1																			0					0						c.(1660-1662)GCG>GTG		solute carrier family 27, member 1							40.0	42.0	42.0					19																	17612106		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17612106C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1661C>T	19.37:g.17612106C>T	ENSP00000252595:p.Ala554Val					SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	p.A554V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			11	1711	+			554			Cytoplasmic (Potential).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1661C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743538	0.69418	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.72394	-0.65;-0.65	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.969	D	0.85227	0.1030	10	0.54805	T	0.06	-16.4675	15.0241	0.71653	0.0:1.0:0.0:0.0	.	375;554	B7Z662;Q6PCB7	.;S27A1_HUMAN	V	554	ENSP00000413424:A554V;ENSP00000252595:A554V	ENSP00000252595:A554V	A	+	2	0	SLC27A1	17473106	1.000000	0.71417	0.925000	0.36789	0.069000	0.16628	7.381000	0.79718	2.129000	0.65627	0.561000	0.74099	GCG		0.647	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
NCAN	1463	broad.mit.edu	37	19	19356151	19356151	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:19356151G>A	ENST00000252575.6	+	13	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_ENST00000538881.1_Silent_p.P625P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1174	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGAACCAGCCGGACAATTTCT	0.572																																						uc002nlz.2																			0				ovary(4)	4						c.(3520-3522)CCG>CCA		chondroitin sulfate proteoglycan 3 precursor							108.0	94.0	99.0					19																	19356151		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356151G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3522G>A	19.37:g.19356151G>A						NCAN_uc002nma.2_Intron	p.P1174P	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3621	+			1174			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3522G>A	CCDS12397.1																																																																																				0.572	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
NPHS1	4868	broad.mit.edu	37	19	36340484	36340484	+	Missense_Mutation	SNP	G	G	A	rs202046128		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:36340484G>A	ENST00000378910.5	-	6	679	c.680C>T	c.(679-681)cCc>cTc	p.P227L	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.P227L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTTGATGGGGGCCTCCAG	0.587																																						uc002oby.2																			0				ovary(4)|skin(1)	5						c.(679-681)CCC>CTC		nephrin precursor							80.0	75.0	77.0					19																	36340484		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340484G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.680C>T	19.37:g.36340484G>A	ENSP00000368190:p.Pro227Leu						p.P227L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	680	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		227			Ig-like C2-type 2.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.680C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122057	0.77436	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86562	-2.14;-2.14	5.53	5.53	0.82687	Immunoglobulin-like fold (1);	0.116625	0.64402	D	0.000016	D	0.91862	0.7424	L	0.59436	1.845	0.54753	D	0.999988	D	0.71674	0.998	D	0.68621	0.959	D	0.92143	0.5722	10	0.62326	D	0.03	-21.3497	16.9419	0.86220	0.0:0.0:1.0:0.0	.	227	O60500	NPHN_HUMAN	L	227	ENSP00000368190:P227L;ENSP00000343634:P227L	ENSP00000343634:P227L	P	-	2	0	NPHS1	41032324	1.000000	0.71417	0.989000	0.46669	0.716000	0.41182	5.897000	0.69831	2.607000	0.88179	0.591000	0.81541	CCC		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
SIPA1L3	23094	broad.mit.edu	37	19	38590640	38590640	+	Silent	SNP	G	G	A	rs142598144		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:38590640G>A	ENST00000222345.6	+	5	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	568					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607																																						uc002ohk.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1702-1704)ACG>ACA		signal-induced proliferation-associated 1 like		G		0,4406		0,0,2203	62.0	60.0	61.0		1704	-11.8	0.1	19	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIPA1L3	NM_015073.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		568/1782	38590640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590640G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1704G>A	19.37:g.38590640G>A							p.T568T	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2213	+			568					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1704G>A	CCDS33007.1																																																																																				0.607	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
SPTBN4	57731	broad.mit.edu	37	19	41009787	41009787	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:41009787C>T	ENST00000352632.3	+	12	1499	c.1413C>T	c.(1411-1413)caC>caT	p.H471H	SPTBN4_ENST00000344104.3_Silent_p.H471H|SPTBN4_ENST00000338932.3_Silent_p.H471H|SPTBN4_ENST00000595535.1_Silent_p.H471H|SPTBN4_ENST00000598249.1_Silent_p.H471H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	471					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGAAACACGAAGCGATCG	0.622																																						uc002ony.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1411-1413)CAC>CAT		spectrin, beta, non-erythrocytic 4 isoform							43.0	39.0	40.0					19																	41009787		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009787C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1413C>T	19.37:g.41009787C>T						SPTBN4_uc002onx.2_Silent_p.H471H|SPTBN4_uc002onz.2_Silent_p.H471H	p.H471H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1499	+			471			Spectrin 3.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1413C>T	CCDS12559.1																																																																																				0.622	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
ARHGEF1	9138	broad.mit.edu	37	19	42398544	42398544	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42398544G>A	ENST00000354532.3	+	10	913	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGEF1_ENST00000599846.1_Silent_p.S255S|ARHGEF1_ENST00000337665.4_Silent_p.S270S|ARHGEF1_ENST00000378152.4_Silent_p.S237S|ARHGEF1_ENST00000347545.4_Silent_p.S222S	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	255					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCGGCGGTCGGACGAGCCTG	0.622																																						uc002orx.2																			0				ovary(3)|large_intestine(1)	4						c.(763-765)TCG>TCA		Rho guanine nucleotide exchange factor 1 isoform							28.0	32.0	31.0					19																	42398544		2203	4300	6503	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42398544G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.765G>A	19.37:g.42398544G>A						ARHGEF1_uc002orw.1_Silent_p.S255S|ARHGEF1_uc002ory.2_Silent_p.S222S|ARHGEF1_uc002orz.2_Silent_p.S93S|ARHGEF1_uc002osa.2_Silent_p.S270S|ARHGEF1_uc002osb.2_Silent_p.S237S|ARHGEF1_uc002osc.2_5'Flank|ARHGEF1_uc002osd.2_5'Flank	p.S255S	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	10	874	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	255					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.765G>A	CCDS12591.1																																																																																				0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002	
DEDD2	162989	broad.mit.edu	37	19	42703643	42703643	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42703643G>A	ENST00000595337.1	-	5	1015	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000596251.1_Missense_Mutation_p.R310C|DEDD2_ENST00000336034.4_Missense_Mutation_p.R305C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	310					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGCAACAGGCGGCGCCGGCCA	0.672																																						uc002osu.1																			0					0						c.(928-930)CGC>TGC		death effector domain-containing  DNA binding							20.0	21.0	20.0					19																	42703643		2200	4293	6493	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42703643G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.928C>T	19.37:g.42703643G>A	ENSP00000470082:p.Arg310Cys					DEDD2_uc002osv.1_RNA|DEDD2_uc002osw.1_Missense_Mutation_p.R305C|DEDD2_uc002osx.1_3'UTR|DEDD2_uc002osy.1_Missense_Mutation_p.R310C	p.R310C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			5	996	-		Prostate(69;0.0704)	310					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.928C>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794943	0.70452	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.93	1.76	0.24704	.	0.086855	0.47093	U	0.000243	T	0.29684	0.0741	N	0.08118	0	0.40502	D	0.980657	B;B	0.15141	0.012;0.007	B;B	0.06405	0.002;0.001	T	0.10730	-1.0617	9	0.87932	D	0	-8.0956	9.2655	0.37639	0.1889:0.0:0.811:0.0	.	305;310	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	C	310	.	ENSP00000336972:R310C	R	-	1	0	DEDD2	47395483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.205000	0.72148	0.410000	0.25675	0.563000	0.77884	CGC		0.672	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328	
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	A	rs558641447		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:43259226G>A	ENST00000306511.4	-	4	999	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSG8_ENST00000404209.4_Missense_Mutation_p.T301M|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T179M|PSG8_ENST00000401467.2_Missense_Mutation_p.T208M	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478													.|||	1	0.000199681	0.0	0.0014	5008	,	,		20909	0.0		0.0	False		,,,				2504	0.0					uc002ouo.2																			0					0						c.(901-903)ACG>ATG		pregnancy specific beta-1-glycoprotein 8 isoform							129.0	130.0	129.0					19																	43259226		2203	4297	6500	SO:0001583	missense	440533					extracellular region		g.chr19:43259226G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.902C>T	19.37:g.43259226G>A	ENSP00000305005:p.Thr301Met					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.T140M|PSG8_uc002ouh.2_Missense_Mutation_p.T301M|PSG8_uc010ein.2_Missense_Mutation_p.T179M|PSG8_uc002ouj.3_Missense_Mutation_p.T83M|PSG8_uc002ouk.3_Missense_Mutation_p.T140M|PSG8_uc002oul.3_Missense_Mutation_p.T301M|PSG8_uc002oum.3_Missense_Mutation_p.T208M|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T208M	p.T301M	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1000	-		Prostate(69;0.00899)	301			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.902C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	8.976	0.974114	0.18736	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46288	0.1385	H	0.94264	3.515	0.09310	N	1	P;D;D;P;P;P	0.71674	0.934;0.974;0.998;0.723;0.57;0.624	B;P;D;P;B;B	0.69479	0.397;0.784;0.964;0.693;0.26;0.378	T	0.22417	-1.0217	9	0.72032	D	0.01	.	6.1171	0.20132	0.0:0.0:1.0:0.0	.	179;208;301;208;301;301	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	M	301;179;208;113;208;301	ENSP00000385869:T301M;ENSP00000385081:T179M;ENSP00000386090:T208M;ENSP00000305005:T301M	ENSP00000305005:T301M	T	-	2	0	PSG8	47951066	0.286000	0.24305	0.050000	0.19076	0.007000	0.05969	0.527000	0.22987	0.731000	0.32448	0.298000	0.19748	ACG		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
EML2	24139	broad.mit.edu	37	19	46137650	46137650	+	Missense_Mutation	SNP	C	C	T	rs143778766		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46137650C>T	ENST00000245925.3	-	4	309	c.259G>A	c.(259-261)Gta>Ata	p.V87I	EML2_ENST00000587152.1_Missense_Mutation_p.V288I|EML2_ENST00000536630.1_Missense_Mutation_p.V234I|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.V87I	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	87	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCACGGCTACGGAGGCCACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13057	0.0		0.0	False		,,,				2504	0.0					uc002pcn.2																			0				large_intestine(1)|ovary(1)	2						c.(259-261)GTA>ATA		echinoderm microtubule associated protein like			ILE/VAL,ILE/VAL,ILE/VAL	5,4401	9.9+/-24.2	0,5,2198	92.0	62.0	72.0		862,700,259	4.7	1.0	19	dbSNP_134	72	0,8600		0,0,4300	yes	missense,missense,missense	EML2	NM_001193268.1,NM_001193269.1,NM_012155.2	29,29,29	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging,probably-damaging	288/851,234/797,87/650	46137650	5,13001	2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46137650C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.259G>A	19.37:g.46137650C>T	ENSP00000245925:p.Val87Ile					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Missense_Mutation_p.V234I|EML2_uc010xxm.1_Missense_Mutation_p.V288I|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.V87I|EML2_uc010ekj.2_Missense_Mutation_p.V87I	p.V87I	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	4	294	-		Ovarian(192;0.179)|all_neural(266;0.224)	87					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.259G>A	CCDS12670.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.99	3.928075	0.73327	0.001135	0.0	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.37235	1.21;1.21;1.21	4.74	4.74	0.60224	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.77820	2.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.99;0.995;0.997;0.999	T	0.62831	-0.6771	10	0.48119	T	0.1	-20.8532	15.2541	0.73571	0.0:1.0:0.0:0.0	.	87;253;234;245;87	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	I	234;87;288;245	ENSP00000442365:V234I;ENSP00000245925:V87I;ENSP00000382503:V245I	ENSP00000245925:V87I	V	-	1	0	EML2	50829490	1.000000	0.71417	0.974000	0.42286	0.351000	0.29236	7.253000	0.78320	2.475000	0.83589	0.462000	0.41574	GTA		0.607	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
SYMPK	8189	broad.mit.edu	37	19	46345702	46345702	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46345702C>T	ENST00000245934.7	-	9	1137	c.893G>A	c.(892-894)cGt>cAt	p.R298H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	298					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGATTCTTACGCACACTGCT	0.592																																						uc002pdn.2																			0				ovary(1)	1						c.(892-894)CGT>CAT		symplekin							84.0	76.0	78.0					19																	46345702		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345702C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.893G>A	19.37:g.46345702C>T	ENSP00000245934:p.Arg298His					SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.1_Missense_Mutation_p.R298H	p.R298H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1138	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	298					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.893G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666781	0.88251	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.64506	0.723;0.926	T	0.74185	-0.3747	9	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	313;298	Q4LE61;Q92797	.;SYMPK_HUMAN	H	298	.	ENSP00000245934:R298H	R	-	2	0	SYMPK	51037542	1.000000	0.71417	0.936000	0.37596	0.397000	0.30659	7.472000	0.80996	2.941000	0.99782	0.655000	0.94253	CGT		0.592	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
SYMPK	8189	broad.mit.edu	37	19	46351088	46351088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46351088C>T	ENST00000245934.7	-	7	842	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	200					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCTCTGAGTCAGCCATGCGG	0.577																																						uc002pdn.2																			0				ovary(1)	1						c.(598-600)GAC>AAC		symplekin							107.0	89.0	95.0					19																	46351088		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351088C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.598G>A	19.37:g.46351088C>T	ENSP00000245934:p.Asp200Asn					SYMPK_uc002pdo.1_Missense_Mutation_p.D200N|SYMPK_uc002pdp.1_Missense_Mutation_p.D200N|SYMPK_uc002pdq.1_Missense_Mutation_p.D200N	p.D200N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	843	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	200					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.598G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	36	5.779392	0.96929	.	.	ENSG00000125755	ENST00000245934	T	0.53206	0.63	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.80764	0.994;0.896	T	0.67620	-0.5624	10	0.72032	D	0.01	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	215;200	Q4LE61;Q92797	.;SYMPK_HUMAN	N	200	ENSP00000245934:D200N	ENSP00000245934:D200N	D	-	1	0	SYMPK	51042928	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.170000	0.77587	2.854000	0.98071	0.655000	0.94253	GAC		0.577	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
GRIN2D	2906	broad.mit.edu	37	19	48945047	48945047	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:48945047C>T	ENST00000263269.3	+	11	2362	c.2274C>T	c.(2272-2274)taC>taT	p.Y758Y		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	758					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTTCATCTACGATGCTGCAG	0.622																																						uc002pjc.3																			0				ovary(3)|breast(3)	6						c.(2272-2274)TAC>TAT		N-methyl-D-aspartate receptor subunit 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						56.0	46.0	50.0					19																	48945047		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945047C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2274C>T	19.37:g.48945047C>T						GRIN2D_uc010elx.2_Translation_Start_Site	p.Y758Y	NM_000836	NP_000827	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2362	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	758			Extracellular (Potential).			Silent	SNP	ENST00000263269.3	37	c.2274C>T	CCDS12719.1																																																																																				0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1		
TSKS	60385	broad.mit.edu	37	19	50243103	50243103	+	Missense_Mutation	SNP	G	G	A	rs141726866	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:50243103G>A	ENST00000246801.3	-	11	1791	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M	TSKS_ENST00000358830.3_Missense_Mutation_p.T370M	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	570					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CATTGTTCCCGTGGACCCCTC	0.562																																						uc002ppm.2																			0				large_intestine(1)|skin(1)	2						c.(1708-1710)ACG>ATG		testis-specific kinase substrate		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	101.0	102.0		1709	3.2	0.7	19	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TSKS	NM_021733.1	81	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	570/593	50243103	4,13002	2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243103G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1709C>T	19.37:g.50243103G>A	ENSP00000246801:p.Thr570Met						p.T570M	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1720	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	570					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1709C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396456	0.11638	2.27E-4	3.49E-4	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33438	1.41;1.41	5.29	3.16	0.36331	.	0.446180	0.18891	N	0.128302	T	0.16685	0.0401	N	0.19112	0.55	0.23916	N	0.996478	B	0.32893	0.389	B	0.24269	0.052	T	0.11665	-1.0578	10	0.51188	T	0.08	-1.3276	8.3385	0.32230	0.1829:0.0:0.8171:0.0	.	570	Q9UJT2	TSKS_HUMAN	M	570;370	ENSP00000246801:T570M;ENSP00000351691:T370M	ENSP00000246801:T570M	T	-	2	0	TSKS	54934915	0.802000	0.28943	0.722000	0.30670	0.028000	0.11728	0.883000	0.28200	0.625000	0.30304	0.609000	0.83330	ACG		0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
SIGLEC6	946	broad.mit.edu	37	19	52034117	52034117	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52034117C>T	ENST00000425629.3	-	3	678	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G139E|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.G175E|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G164E|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G175E|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G175E	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	175	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667																																						uc002pwy.2																			0				ovary(1)	1						c.(523-525)GGG>GAG		sialic acid binding Ig-like lectin 6 isoform 1							75.0	79.0	78.0					19																	52034117		2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034117C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.524G>A	19.37:g.52034117C>T	ENSP00000401502:p.Gly175Glu					SIGLEC6_uc002pwz.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.2_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010ydc.1_Missense_Mutation_p.G164E|SIGLEC6_uc010eoz.1_Missense_Mutation_p.G153E|SIGLEC6_uc010epb.1_Missense_Mutation_p.G128E|SIGLEC6_uc010epa.1_Missense_Mutation_p.G164E	p.G175E	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	686	-		all_neural(266;0.0199)	175			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.524G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360444	0.24598	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	3.34	1.1	0.20463	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.421024	0.17441	N	0.174121	T	0.41743	0.1172	M	0.84948	2.725	0.09310	N	1	D;D;P;D;D;D;D	0.89917	0.997;1.0;0.94;0.987;1.0;1.0;0.997	D;D;P;P;D;D;D	0.91635	0.936;0.995;0.824;0.82;0.999;0.971;0.972	T	0.11299	-1.0593	10	0.42905	T	0.14	.	4.0573	0.09823	0.0:0.6096:0.2496:0.1408	.	175;139;164;164;175;175;175	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	E	164;175;175;175;139;175;164	ENSP00000401502:G175E;ENSP00000353071:G175E;ENSP00000410679:G139E;ENSP00000345907:G175E	ENSP00000345907:G175E	G	-	2	0	SIGLEC6	56725929	0.010000	0.17322	0.010000	0.14722	0.046000	0.14306	0.649000	0.24843	0.714000	0.32081	0.313000	0.20887	GGG		0.667	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
FPR1	2357	broad.mit.edu	37	19	52249297	52249297	+	Silent	SNP	G	G	A	rs570072877		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52249297G>A	ENST00000595042.1	-	3	1092	c.951C>T	c.(949-951)ccC>ccT	p.P317P	FPR1_ENST00000304748.4_Silent_p.P317P	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	317					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGACTGGCGGGAAGGGCGT	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17299	0.0		0.0	False		,,,				2504	0.0					uc002pxq.2																			0				ovary(1)|lung(1)|skin(1)	3						c.(949-951)CCC>CCT		formyl peptide receptor 1	Nedocromil(DB00716)						106.0	100.0	102.0					19																	52249297		2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249297G>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.951C>T	19.37:g.52249297G>A							p.P317P	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	1046	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	317			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.951C>T	CCDS12839.1																																																																																				0.557	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
ASAP2	8853	broad.mit.edu	37	2	9517083	9517083	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:9517083G>A	ENST00000281419.3	+	18	2133	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ASAP2_ENST00000315273.4_Missense_Mutation_p.R598Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	598					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448																																						uc002qzh.2																			0					0						c.(1792-1794)CGA>CAA		ArfGAP with SH3 domain, ankyrin repeat and PH							134.0	141.0	139.0					2																	9517083		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9517083G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1793G>A	2.37:g.9517083G>A	ENSP00000281419:p.Arg598Gln					ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	p.R598Q	NM_003887	NP_003878	O43150	ASAP2_HUMAN			18	2133	+			598			ANK 1.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1793G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510622	0.85389	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.64618	-0.11;-0.11	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72338	0.977;0.925	T	0.58842	-0.7565	10	0.06757	T	0.87	.	19.2922	0.94105	0.0:0.0:1.0:0.0	.	598;598	O43150-2;O43150	.;ASAP2_HUMAN	Q	598	ENSP00000281419:R598Q;ENSP00000316404:R598Q	ENSP00000281419:R598Q	R	+	2	0	ASAP2	9434534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.440000	0.97547	2.547000	0.85894	0.655000	0.94253	CGA		0.448	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
GALNT14	79623	broad.mit.edu	37	2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	rs143143842		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:31167749G>A	ENST00000349752.5	-	8	1441	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.R235C|GALNT14_ENST00000324589.5_Missense_Mutation_p.R273C|GALNT14_ENST00000420311.2_Missense_Mutation_p.R233C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R248C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	268					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R268C(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTCCAGGCGCCGAGCCTTC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16837	0.0		0.0	False		,,,				2504	0.0					uc002rnr.2																			1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(802-804)CGC>TGC		N-acetylgalactosaminyltransferase 14							63.0	63.0	63.0					2																	31167749		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31167749G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.802C>T	2.37:g.31167749G>A	ENSP00000288988:p.Arg268Cys					GALNT14_uc002rnq.2_Missense_Mutation_p.R248C|GALNT14_uc002rns.2_Missense_Mutation_p.R273C|GALNT14_uc010ymr.1_Missense_Mutation_p.R233C|GALNT14_uc010ezo.1_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	p.R268C	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			8	1421	-	Acute lymphoblastic leukemia(172;0.155)		268			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.802C>T	CCDS1773.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.5	4.419254	0.83559	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	D;D;P;D;D	0.79108	0.979;0.942;0.787;0.992;0.975	D	0.90522	0.4489	10	0.87932	D	0	.	18.5157	0.90935	0.0:0.0:1.0:0.0	.	233;235;273;268;248	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	268;273;248;235;233;235	ENSP00000288988:R268C;ENSP00000314500:R273C;ENSP00000385435:R248C;ENSP00000348497:R235C;ENSP00000415514:R233C;ENSP00000406399:R235C	ENSP00000314500:R273C	R	-	1	0	GALNT14	31021253	1.000000	0.71417	0.982000	0.44146	0.947000	0.59692	3.377000	0.52425	2.544000	0.85801	0.313000	0.20887	CGC		0.587	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
LINC01317	104355287	broad.mit.edu	37	2	33952423	33952423	+	lincRNA	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:33952423C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TAGTGAGGGCCGCCAGGACGA	0.632																																						uc002rpb.2																			0					0						c.(418-420)GCG>GCA		RecName: Full=Myeloid-associated differentiation marker-like protein.;																																						151325							g.chr2:33952423C>T																													2.37:g.33952423C>T							p.A140A	NR_003143						1	862	-									Silent	SNP	ENST00000366209.2	37	c.420G>A																																																																																					0.632	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1		
ARHGAP25	9938	broad.mit.edu	37	2	69034467	69034467	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:69034467G>A	ENST00000295381.3	+	5	945	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V170M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V170M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V137M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V169M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V177M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V151M|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	176	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCCCCATCTGGTGCCCATCCT	0.562																																						uc002seu.2																			0				ovary(2)|breast(2)	4						c.(526-528)GTG>ATG		Rho GTPase activating protein 25 isoform a							103.0	94.0	97.0					2																	69034467		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69034467G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.526G>A	2.37:g.69034467G>A	ENSP00000295381:p.Val176Met					ARHGAP25_uc010yqk.1_Missense_Mutation_p.V151M|ARHGAP25_uc010fdg.2_Missense_Mutation_p.V177M|ARHGAP25_uc010yql.1_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.2_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.2_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.2_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_Translation_Start_Site	p.V176M	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			5	890	+			176			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.526G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.093837|6.093837	0.97276|0.97276	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533|ENST00000497259	T;T;T;T;T;T;T|.	0.52057|.	0.68;0.68;2.44;2.44;0.68;2.44;2.44|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);|.	0.058321|.	0.64402|.	D|.	0.000002|.	T|.	0.82181|.	0.4981|.	M|M	0.86097|0.86097	2.795|2.795	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.65815|.	0.993;0.995;0.992;0.992;0.992;0.992;0.986|.	D;D;P;P;P;P;P|.	0.66196|.	0.915;0.942;0.808;0.808;0.808;0.731;0.764|.	D|.	0.84356|.	0.0535|.	10|.	0.72032|.	D|.	0.01|.	.|.	17.1999|17.1999	0.86903|0.86903	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;151;177;170;169;170;176|.	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;.;RHG25_HUMAN|.	M|X	151;176;177;137;169;170;170;170;161|35	ENSP00000439917:V151M;ENSP00000295381:V176M;ENSP00000386911:V177M;ENSP00000420583:V137M;ENSP00000386863:V169M;ENSP00000386241:V170M;ENSP00000417139:V170M|.	ENSP00000295381:V176M|.	V|W	+|+	1|3	0|0	ARHGAP25|ARHGAP25	68887971|68887971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	9.374000|9.374000	0.97172|0.97172	2.545000|2.545000	0.85829|0.85829	0.555000|0.555000	0.69702|0.69702	GTG|TGG		0.562	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
C2orf68	388969	broad.mit.edu	37	2	85836146	85836146	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:85836146C>T	ENST00000306336.5	-	4	467	c.423G>A	c.(421-423)acG>acA	p.T141T	C2orf68_ENST00000478626.1_5'Flank|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	141										breast(1)|central_nervous_system(1)|endometrium(1)	3						GATCCAGAGGCGTGTGTGCCG	0.572																																						uc002sqc.2																			0				central_nervous_system(1)	1						c.(421-423)ACG>ACA		hypothetical protein LOC388969							106.0	104.0	105.0					2																	85836146		2056	4207	6263	SO:0001819	synonymous_variant	388969							g.chr2:85836146C>T		CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.423G>A	2.37:g.85836146C>T						USP39_uc002sqb.2_Intron	p.T141T	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN			4	495	-			141					B4DT10|Q4G0J7|Q6ZVA6	Silent	SNP	ENST00000306336.5	37	c.423G>A	CCDS42704.1																																																																																				0.572	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329451.1	NM_001013649	
TBC1D8	11138	broad.mit.edu	37	2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:101656773G>A	ENST00000376840.4	-	6	901	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TBC1D8_ENST00000409318.1_Missense_Mutation_p.A316V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	301	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCCACAACCGCGTGCAGCTT	0.577																																						uc010fiv.2																			0				ovary(3)	3						c.(901-903)GCG>GTG		TBC1 domain family, member 8							43.0	47.0	46.0					2																	101656773		2000	4179	6179	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101656773G>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.902C>T	2.37:g.101656773G>A	ENSP00000366036:p.Ala301Val					TBC1D8_uc010yvw.1_Missense_Mutation_p.A316V|TBC1D8_uc002tau.3_Missense_Mutation_p.A58V	p.A301V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			6	1033	-			301			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.902C>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576400	0.28092	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.87650	-2.28;-2.28	5.86	1.62	0.23740	GRAM (2);	0.422463	0.23532	N	0.047167	T	0.69405	0.3107	N	0.14661	0.345	0.19300	N	0.999972	P;P	0.43607	0.812;0.502	B;B	0.33568	0.166;0.164	T	0.64206	-0.6462	10	0.54805	T	0.06	-6.7779	5.7659	0.18227	0.1668:0.0:0.3267:0.5065	.	316;301	B7Z6L4;O95759	.;TBCD8_HUMAN	V	301;316	ENSP00000366036:A301V;ENSP00000386856:A316V	ENSP00000366036:A301V	A	-	2	0	TBC1D8	101023205	0.196000	0.23350	0.001000	0.08648	0.049000	0.14656	1.634000	0.37123	0.380000	0.24823	-0.182000	0.12963	GCG		0.577	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.2																			0					0						c.(616-618)CAC>GAC		WAS protein family homolog 1																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	p.H206D	NM_182905	NP_878908					5	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TUBA3D	113457	broad.mit.edu	37	2	132238322	132238322	+	Splice_Site	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:132238322G>T	ENST00000321253.6	+	4	1163	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	352					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGATTTAAGGTATGACTGG	0.552																																					Ovarian(137;2059 2432 35543 39401)	uc002tsu.3																			0					0						c.(1054-1056)AAG>AAT		tubulin, alpha 3d							70.0	68.0	68.0					2																	132238322		2203	4300	6503	SO:0001630	splice_region_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238322G>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1056+1G>T	2.37:g.132238322G>T							p.K352N	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	1163	+			352					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.1056G>T	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	7.353	0.623310	0.14193	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.84589	-1.87	2.24	2.24	0.28232	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.48286	U	0.000193	D	0.95076	0.8405	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93688	0.7004	10	0.87932	D	0	.	7.9601	0.30066	0.0:0.0:1.0:0.0	.	352	Q13748	TBA3C_HUMAN	N	352	ENSP00000326042:K352N	ENSP00000326042:K352N	K	+	3	2	TUBA3D	131954792	1.000000	0.71417	0.958000	0.39756	0.239000	0.25481	6.288000	0.72679	1.243000	0.43853	0.194000	0.17425	AAG		0.552	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	Missense_Mutation
TANC1	85461	broad.mit.edu	37	2	160074082	160074082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:160074082C>T	ENST00000263635.6	+	20	3556	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1001W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1107					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGTGTCGCGGACAAACAG	0.597																																						uc002uag.2																			0				ovary(2)|central_nervous_system(1)	3						c.(3319-3321)CGG>TGG		tetratricopeptide repeat, ankyrin repeat and							91.0	102.0	99.0					2																	160074082		2061	4228	6289	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160074082C>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3319C>T	2.37:g.160074082C>T	ENSP00000263635:p.Arg1107Trp					TANC1_uc010zcm.1_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.2_5'UTR	p.R1107W	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			20	3593	+			1107			ANK 6.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.3319C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172367	0.78452	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.65732	-0.12;-0.17	5.91	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.236274	0.44483	D	0.000442	T	0.71863	0.3390	L	0.60012	1.86	0.43152	D	0.99492	D;D;D	0.71674	0.998;0.994;0.996	P;P;P	0.58970	0.817;0.721;0.849	T	0.70360	-0.4893	10	0.38643	T	0.18	.	16.1905	0.81986	0.1772:0.8228:0.0:0.0	.	1099;1001;1107	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	W	1001;1107	ENSP00000396339:R1001W;ENSP00000263635:R1107W	ENSP00000263635:R1107W	R	+	1	2	TANC1	159782328	0.992000	0.36948	0.499000	0.27577	0.713000	0.41058	3.207000	0.51106	2.813000	0.96785	0.655000	0.94253	CGG		0.597	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
TTN	7273	broad.mit.edu	37	2	179396884	179396884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:179396884C>T	ENST00000591111.1	-	308	99759	c.99535G>A	c.(99535-99537)Gaa>Aaa	p.E33179K	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32252K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25880K|TTN_ENST00000342175.6_Missense_Mutation_p.E25947K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25755K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34820K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33179					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAGATTTCGTATTCTTCC	0.413																																						uc010zfg.1																			4	Substitution - Missense(4)		skin(4)	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.(96754-96756)GAA>AAA		titin isoform N2-A							97.0	94.0	95.0					2																	179396884		1958	4140	6098	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396884C>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.99535G>A	2.37:g.179396884C>T	ENSP00000465570:p.Glu33179Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25947K|TTN_uc010zfi.1_Missense_Mutation_p.E25880K|TTN_uc010zfj.1_Missense_Mutation_p.E25755K|TTN_uc002umq.2_5'Flank	p.E32252K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96978	-			33179					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.96754G>A		.	.	.	.	.	.	.	.	.	.	C	12.43	1.934179	0.34096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.18;0.16;0.15	5.55	5.55	0.83447	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46698	0.1406	N	0.19112	0.55	0.37996	D	0.934087	P;P;P;P	0.44521	0.837;0.837;0.837;0.837	B;B;B;B	0.31946	0.138;0.138;0.138;0.138	T	0.60826	-0.7186	9	0.87932	D	0	.	19.1016	0.93276	0.0:1.0:0.0:0.0	.	25755;25880;25947;33179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32252;25755;25947;25880;25752	ENSP00000343764:E32252K;ENSP00000434586:E25755K;ENSP00000340554:E25947K;ENSP00000352154:E25880K	ENSP00000340554:E25947K	E	-	1	0	TTN	179105130	0.919000	0.31177	0.705000	0.30386	0.399000	0.30720	1.900000	0.39828	2.611000	0.88343	0.650000	0.86243	GAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPATS2L	26010	broad.mit.edu	37	2	201337625	201337625	+	Silent	SNP	C	C	T	rs376312723		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:201337625C>T	ENST00000358677.5	+	12	1378	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	SPATS2L_ENST00000409718.1_Silent_p.H377H|SPATS2L_ENST00000451764.2_Silent_p.H377H|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409151.1_Silent_p.H385H|SPATS2L_ENST00000360760.5_Silent_p.H308H|SPATS2L_ENST00000409140.3_Silent_p.H377H|SPATS2L_ENST00000409755.3_Silent_p.H407H|SPATS2L_ENST00000409385.1_Silent_p.H317H|SPATS2L_ENST00000409988.3_Silent_p.H377H	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	377						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGCGCACGCAGCAACCT	0.483																																						uc002uvn.3																			0				ovary(2)|pancreas(1)	3						c.(1129-1131)CAC>CAT		SPATS2-like protein isoform a		C	,,,	1,3989		0,1,1994	82.0	87.0	86.0		1131,1131,924,1131	-0.1	0.0	2		86	0,8356		0,0,4178	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPATS2L	NM_001100422.1,NM_001100423.1,NM_001100424.1,NM_015535.2	,,,	0,1,6172	TT,TC,CC		0.0,0.0251,0.0081	,,,	377/559,377/559,308/490,377/559	201337625	1,12345	1995	4178	6173	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201337625C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1131C>T	2.37:g.201337625C>T						SPATS2L_uc010fst.2_Silent_p.H377H|SPATS2L_uc002uvo.3_Silent_p.H317H|SPATS2L_uc002uvp.3_Silent_p.H377H|SPATS2L_uc002uvq.3_Silent_p.H308H|SPATS2L_uc002uvr.3_Silent_p.H377H|SPATS2L_uc010zhc.1_Silent_p.H407H	p.H377H	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			12	1483	+			377					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.1131C>T	CCDS46483.1																																																																																				0.483	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
PID1	55022	broad.mit.edu	37	2	230020577	230020577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:230020577G>A	ENST00000354069.6	-	2	263	c.233C>T	c.(232-234)aCg>aTg	p.T78M	PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.T45M|PID1_ENST00000482518.2_5'UTR|PID1_ENST00000392054.3_Missense_Mutation_p.T76M			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	78					cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGTGTGGTCGTGCACAGCTC	0.517																																						uc002vpr.3																			0				breast(3)|skin(1)	4						c.(232-234)ACG>ATG		phosphotyrosine interaction domain containing 1							116.0	109.0	111.0					2																	230020577		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:230020577G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.233C>T	2.37:g.230020577G>A	ENSP00000283937:p.Thr78Met					PID1_uc002vps.3_Missense_Mutation_p.T76M|PID1_uc002vpt.3_Missense_Mutation_p.T45M|PID1_uc002vpu.3_Intron	p.T78M	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	2	271	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	78					B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.233C>T		.	.	.	.	.	.	.	.	.	.	G	19.10	3.762756	0.69763	.	.	ENSG00000153823	ENST00000392054;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.74	5.74	0.90152	.	0.376195	0.30036	N	0.010568	T	0.64091	0.2567	N	0.24115	0.695	0.52501	D	0.99995	D;D;D	0.89917	0.994;1.0;0.998	P;D;P	0.67231	0.796;0.95;0.869	T	0.59736	-0.7398	8	.	.	.	-27.7907	19.2859	0.94069	0.0:0.0:1.0:0.0	.	45;76;78	Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;PCLI1_HUMAN	M	76;45;78;78	.	.	T	-	2	0	PID1	229728821	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.299000	0.96137	2.873000	0.98535	0.563000	0.77884	ACG		0.517	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
UGT1A9	54600	broad.mit.edu	37	2	234580843	234580843	+	Missense_Mutation	SNP	G	G	A	rs148603525	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234580843G>A	ENST00000354728.4	+	1	345	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	UGT1A1_ENST00000609637.1_Missense_Mutation_p.R88Q|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	88					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R88L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GATCTGGACCGGGAGTTCAAG	0.408													G|||	2	0.000399361	0.0	0.0	5008	,	,		21083	0.002		0.0	False		,,,				2504	0.0					uc002vus.2																			1	Substitution - Missense(1)		kidney(1)	ovary(3)|breast(1)|skin(1)	5						c.(262-264)CGG>CAG		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						102.0	98.0	99.0					2																	234580843		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234580843G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.263G>A	2.37:g.234580843G>A	ENSP00000346768:p.Arg88Gln					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.R88Q	p.R88Q	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	300	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	88					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.263G>A	CCDS2505.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	5.383	0.255909	0.10185	.	.	ENSG00000241119	ENST00000354728	T	0.61510	0.1	3.45	-1.82	0.07857	.	.	.	.	.	T	0.33089	0.0851	N	0.20986	0.625	0.09310	N	1	B;B	0.27416	0.178;0.178	B;B	0.16289	0.015;0.015	T	0.13818	-1.0495	9	0.20519	T	0.43	.	5.0149	0.14331	0.4255:0.2155:0.359:0.0	.	88;88	Q5DSZ5;O60656	.;UD19_HUMAN	Q	88	ENSP00000346768:R88Q	ENSP00000346768:R88Q	R	+	2	0	UGT1A9	234245582	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-2.586000	0.00902	-0.242000	0.09667	0.446000	0.29264	CGG		0.408	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
TRPM8	79054	broad.mit.edu	37	2	234851383	234851383	+	Silent	SNP	C	C	T	rs147774253		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234851383C>T	ENST00000324695.4	+	6	730	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRPM8_ENST00000409625.1_Silent_p.C153C|TRPM8_ENST00000355722.4_Silent_p.C180C|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	230					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCAGGAATTGCGATGCTGAGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.001					uc002vvh.2																			0				skin(4)	4						c.(688-690)TGC>TGT		transient receptor potential cation channel,	Menthol(DB00825)	C		0,4406		0,0,2203	147.0	140.0	142.0		690	-9.2	0.0	2	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM8	NM_024080.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		230/1105	234851383	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234851383C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.690C>T	2.37:g.234851383C>T						TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Silent_p.C180C|TRPM8_uc002vvj.3_Silent_p.C153C	p.C230C	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	6	730	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	230			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.690C>T	CCDS33407.1																																																																																				0.562	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
KIF1A	547	broad.mit.edu	37	2	241728662	241728662	+	Silent	SNP	C	C	T	rs369088708		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:241728662C>T	ENST00000320389.7	-	3	332	c.174G>A	c.(172-174)tcG>tcA	p.S58S	KIF1A_ENST00000498729.2_Silent_p.S58S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	58	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGAGGTGTGCGACCAGTAGG	0.612																																						uc002vzy.2																			0				lung(1)	1						c.(172-174)TCG>TCA		axonal transport of synaptic vesicles		C		0,4326		0,0,2163	63.0	73.0	69.0		174	-5.3	1.0	2		69	1,8575	1.2+/-3.3	0,1,4287	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6450	TT,TC,CC		0.0117,0.0,0.0078		58/1691	241728662	1,12901	2163	4288	6451	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241728662C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.174G>A	2.37:g.241728662C>T						KIF1A_uc010fzk.2_Silent_p.S58S|KIF1A_uc002vzz.1_Silent_p.S58S	p.S58S	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	3	320	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	58			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.174G>A	CCDS46561.1																																																																																				0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
PREX1	57580	broad.mit.edu	37	20	47249039	47249039	+	Missense_Mutation	SNP	G	G	A	rs558809203		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:47249039G>A	ENST00000371941.3	-	34	4428	c.4406C>T	c.(4405-4407)aCg>aTg	p.T1469M	PREX1_ENST00000396220.1_Missense_Mutation_p.T1469M	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1469					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCACCTTTCGTGAACAGCGC	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18995	0.0		0.0	False		,,,				2504	0.0					uc002xtw.1																			0				lung(3)|ovary(2)|pancreas(1)	6						c.(4405-4407)ACG>ATG		phosphatidylinositol-3,4,							45.0	44.0	44.0					20																	47249039		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47249039G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4406C>T	20.37:g.47249039G>A	ENSP00000361009:p.Thr1469Met					PREX1_uc002xtv.1_Missense_Mutation_p.T766M	p.T1469M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		34	4429	-			1469					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4406C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901331	0.52227	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66460	0.94;-0.21	4.22	4.22	0.49857	.	0.000000	0.56097	U	0.000032	T	0.79713	0.4493	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.64595	0.927;0.919	D	0.83462	0.0054	10	0.87932	D	0	.	16.5913	0.84766	0.0:0.0:1.0:0.0	.	1469;766	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	M	1469	ENSP00000361009:T1469M;ENSP00000379522:T1469M	ENSP00000361009:T1469M	T	-	2	0	PREX1	46682446	1.000000	0.71417	0.847000	0.33407	0.073000	0.16967	7.374000	0.79633	1.879000	0.54435	0.462000	0.41574	ACG		0.677	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
EEF1A2	1917	broad.mit.edu	37	20	62126254	62126254	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:62126254G>A	ENST00000298049.7	-	3	595	c.525C>T	c.(523-525)agC>agT	p.S175S	EEF1A2_ENST00000217182.3_Silent_p.S175S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	175	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGGCGCTGACTTCCT	0.602																																						uc002yfd.1																			0					0						c.(523-525)AGC>AGT		eukaryotic translation elongation factor 1 alpha							90.0	68.0	76.0					20																	62126254		2202	4299	6501	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126254G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.525C>T	20.37:g.62126254G>A						EEF1A2_uc002yfe.1_Silent_p.S175S|EEF1A2_uc010gkg.1_Silent_p.S175S	p.S175S	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	626	-	all_cancers(38;9.45e-12)		175					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.525C>T	CCDS13522.1																																																																																				0.602	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	
ADAMTS5	11096	broad.mit.edu	37	21	28338467	28338467	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:28338467A>C	ENST00000284987.5	-	1	365	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	82					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCCGCCGGAGTAGAGTTGG	0.697																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(244-246)TCC>GCC		ADAM metallopeptidase with thrombospondin type 1							43.0	42.0	42.0					21																	28338467		2186	4284	6470	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338467A>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.244T>G	21.37:g.28338467A>C	ENSP00000284987:p.Ser82Ala						p.S82A	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	973	-			82					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.244T>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	A	7.824	0.718328	0.15372	.	.	ENSG00000154736	ENST00000284987	T	0.06371	3.31	4.32	0.585	0.17428	Peptidase M12B, propeptide (1);	0.408832	0.25532	N	0.030025	T	0.03651	0.0104	L	0.34521	1.04	0.23082	N	0.998329	B	0.02656	0.0	B	0.04013	0.001	T	0.47355	-0.9124	10	0.07175	T	0.84	.	5.4627	0.16626	0.399:0.4341:0.1669:0.0	.	82	Q9UNA0	ATS5_HUMAN	A	82	ENSP00000284987:S82A	ENSP00000284987:S82A	S	-	1	0	ADAMTS5	27260338	1.000000	0.71417	0.439000	0.26833	0.983000	0.72400	0.901000	0.28445	-0.054000	0.13266	0.460000	0.39030	TCC		0.697	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
HSF2BP	11077	broad.mit.edu	37	21	44949729	44949729	+	Missense_Mutation	SNP	G	G	A	rs138290442		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:44949729G>A	ENST00000291560.2	-	9	1241	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R229C	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	304					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCCAGGATGCGTTGCAGGGGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		14105	0.0		0.001	False		,,,				2504	0.0					uc002zdi.2																			0				skin(1)	1						c.(910-912)CGC>TGC		heat shock transcription factor 2 binding		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	70.0	71.0	71.0		910	5.6	1.0	21	dbSNP_134	71	15,8585	11.2+/-40.8	0,15,4285	yes	missense	HSF2BP	NM_007031.1	180	0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307	probably-damaging	304/335	44949729	17,12989	2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:44949729G>A	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"""heat shock factor 2 binding protein"""	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.910C>T	21.37:g.44949729G>A	ENSP00000291560:p.Arg304Cys					HSF2BP_uc011aey.1_Missense_Mutation_p.R229C	p.R304C	NM_007031	NP_008962	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	9	1242	-			304					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.910C>T	CCDS13697.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	31	5.066166	0.93898	4.54E-4	0.001744	ENSG00000160207	ENST00000291560;ENST00000542962	T;T	0.68479	-0.33;0.73	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.201479	0.53938	D	0.000050	T	0.79088	0.4387	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.80246	-0.1462	10	0.72032	D	0.01	.	19.1394	0.93441	0.0:0.0:1.0:0.0	.	304	O75031	HSF2B_HUMAN	C	304;229	ENSP00000291560:R304C;ENSP00000443367:R229C	ENSP00000291560:R304C	R	-	1	0	HSF2BP	43774157	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.427000	0.73378	2.633000	0.89246	0.563000	0.77884	CGC		0.587	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031	
ICOSLG	23308	broad.mit.edu	37	21	45657075	45657075	+	Silent	SNP	C	C	T	rs188124639	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45657075C>T	ENST00000407780.3	-	3	208	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000344330.4_Silent_p.A27A|ICOSLG_ENST00000400379.3_Silent_p.A27A	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	27	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498													C|||	10	0.00199681	0.0	0.0	5008	,	,		22368	0.0099		0.0	False		,,,				2504	0.0					uc002zee.2																			0					0						c.(79-81)GCG>GCA		inducible T-cell co-stimulator ligand precursor							67.0	73.0	71.0					21																	45657075		2079	4221	6300	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657075C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.81G>A	21.37:g.45657075C>T						ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.A27A	p.A27A	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	215	-			27			Ig-like V-type.|Extracellular (Potential).		A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.81G>A	CCDS42952.1																																																																																				0.498	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	
PFKL	5211	broad.mit.edu	37	21	45732042	45732042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45732042C>T	ENST00000349048.4	+	4	347	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R145C	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	98	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGGGAGGGGCGCCGGGCAGC	0.642																																						uc002zel.2																			0					0						c.(292-294)CGC>TGC		liver phosphofructokinase							25.0	21.0	23.0					21																	45732042		2193	4292	6485	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732042C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.292C>T	21.37:g.45732042C>T	ENSP00000269848:p.Arg98Cys					PFKL_uc002zek.2_Missense_Mutation_p.R145C|PFKL_uc011afd.1_Missense_Mutation_p.R145C	p.R98C	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	4	351	+			98					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.292C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059623	0.55325	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80824	-1.42;-1.42	4.3	4.3	0.51218	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95203	0.8318	10	0.87932	D	0	-19.9368	15.9247	0.79606	0.0:1.0:0.0:0.0	.	98;145	P17858;P17858-2	K6PL_HUMAN;.	C	98;148;145	ENSP00000269848:R98C;ENSP00000384038:R145C	ENSP00000269848:R98C	R	+	1	0	PFKL	44556470	0.985000	0.35326	0.854000	0.33618	0.323000	0.28346	2.765000	0.47621	2.111000	0.64477	0.467000	0.42956	CGC		0.642	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		
MICAL3	57553	broad.mit.edu	37	22	18301786	18301786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:18301786G>A	ENST00000441493.2	-	26	3993	c.3641C>T	c.(3640-3642)tCg>tTg	p.S1214L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1214	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.S1214L(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTCAGATCCGAGGGGGCATC	0.622																																						uc002zng.3																			1	Substitution - Missense(1)		breast(1)		0						c.(3640-3642)TCG>TTG		microtubule associated monoxygenase, calponin							19.0	21.0	20.0					22																	18301786		1940	4113	6053	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301786G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3641C>T	22.37:g.18301786G>A	ENSP00000416015:p.Ser1214Leu					MICAL3_uc011agl.1_Missense_Mutation_p.S1130L	p.S1214L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	3994	-		all_epithelial(15;0.198)	1214			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3641C>T	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.878|9.878	1.200768|1.200768	0.22121|0.22121	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.61859	.|0.07	4.48|4.48	-1.03|-1.03	0.10102|0.10102	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	0.0879|0.0879	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.09377	.|0.004	T|T	0.17653|0.17653	-1.0362|-1.0362	5|9	.|0.35671	.|T	.|0.21	.|.	0.7095|0.7095	0.00922|0.00922	0.2605:0.1177:0.3041:0.3177|0.2605:0.1177:0.3041:0.3177	.|.	.|1214	.|Q7RTP6	.|MICA3_HUMAN	W|L	196|1214	.|ENSP00000416015:S1214L	.|ENSP00000416015:S1214L	R|S	-|-	1|2	2|0	XXbac-B461K10.4|XXbac-B461K10.4	16681786|16681786	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.428000|-0.428000	0.06991|0.06991	-0.006000|-0.006000	0.14370|0.14370	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.622	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
TSSK2	23617	broad.mit.edu	37	22	19119833	19119833	+	Silent	SNP	C	C	T	rs150037057	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19119833C>T	ENST00000399635.2	+	1	1513	c.921C>T	c.(919-921)ccC>ccT	p.P307P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	307					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTTGAGGCCCGACCACCGGC	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		16201	0.001		0.0	False		,,,				2504	0.001					uc002zow.2																			0				stomach(1)	1						c.(919-921)CCC>CCT		testis-specific serine kinase 2		C	,	0,4406		0,0,2203	33.0	33.0	33.0		,921	-10.7	0.0	22	dbSNP_134	33	1,8595		0,1,4297	no	utr-3,coding-synonymous	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,	,307/359	19119833	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119833C>T	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.921C>T	22.37:g.19119833C>T						DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.P307P	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	1513	+	Colorectal(54;0.0993)		307					Q8IY55	Silent	SNP	ENST00000399635.2	37	c.921C>T	CCDS13755.1																																																																																				0.637	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1		
HIRA	7290	broad.mit.edu	37	22	19398254	19398254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19398254C>T	ENST00000263208.5	-	2	341	c.85G>A	c.(85-87)Gca>Aca	p.A29T	HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.A29T|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	29					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCAGTTGCGAACTTGGTC	0.408																																						uc002zpf.1																			0				ovary(1)	1						c.(85-87)GCA>ACA		HIR histone cell cycle regulation defective							235.0	238.0	237.0					22																	19398254		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19398254C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.85G>A	22.37:g.19398254C>T	ENSP00000263208:p.Ala29Thr					HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.A29T|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	p.A29T	NM_003325	NP_003316	P54198	HIRA_HUMAN			2	305	-	Colorectal(54;0.0993)		29			WD 1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.85G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371606	0.82573	.	.	ENSG00000100084	ENST00000340170;ENST00000263208	D;T	0.84873	-1.91;-0.82	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.982;0.996	D	0.95961	0.8962	10	0.72032	D	0.01	-9.7257	17.73	0.88375	0.0:1.0:0.0:0.0	.	29;29	P54198-2;P54198	.;HIRA_HUMAN	T	29	ENSP00000345350:A29T;ENSP00000263208:A29T	ENSP00000263208:A29T	A	-	1	0	HIRA	17778254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.956000	0.76013	2.485000	0.83878	0.655000	0.94253	GCA		0.408	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	RNA	SNP	G	G	A	rs140118179		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:21829507G>A	ENST00000450651.1	-	0	1831							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542																																						uc002zuv.3																			0					0						c.(1636-1638)CTC>TTC		SubName: Full=Putative uncharacterized protein PI4KA;							22.0	17.0	18.0					22																	21829507		676	1519	2195			375133							g.chr22:21829507G>A			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829507G>A						PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron	p.L546F							14	3895	-								Q6ICJ0|Q6ZT68|Q8WUK7	Missense_Mutation	SNP	ENST00000450651.1	37	c.1636C>T																																																																																					0.542	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1		
TFIP11	24144	broad.mit.edu	37	22	26906086	26906086	+	Silent	SNP	G	G	A	rs150326842	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:26906086G>A	ENST00000407690.1	-	4	436	c.153C>T	c.(151-153)taC>taT	p.Y51Y	TFIP11_ENST00000407431.1_Silent_p.Y51Y|TFIP11_ENST00000407148.1_Silent_p.Y51Y|CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000405938.1_Silent_p.Y51Y|CTA-445C9.14_ENST00000565764.1_RNA	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	51					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCACACCCCGTAGGTGGCTT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		17720	0.0		0.002	False		,,,				2504	0.0					uc003acr.2																			0					0						c.(151-153)TAC>TAT		tuftelin interacting protein 11		G	,	0,4406		0,0,2203	165.0	142.0	150.0		153,153	-9.5	0.9	22	dbSNP_134	150	20,8580	15.3+/-51.7	0,20,4280	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,20,6483	AA,AG,GG		0.2326,0.0,0.1538	,	51/838,51/838	26906086	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906086G>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.153C>T	22.37:g.26906086G>A						TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	p.Y51Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			3	527	-			51					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.153C>T	CCDS13838.1																																																																																				0.567	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	
MCM5	4174	broad.mit.edu	37	22	35802697	35802697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:35802697C>T	ENST00000216122.4	+	5	729	c.575C>T	c.(574-576)gCc>gTc	p.A192V	MCM5_ENST00000382011.5_Missense_Mutation_p.A149V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	192					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGGGCTATGCCCTGCCCAGG	0.602																																						uc003anu.3																			0				ovary(1)	1						c.(574-576)GCC>GTC		minichromosome maintenance complex component 5							74.0	54.0	61.0					22																	35802697		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35802697C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.575C>T	22.37:g.35802697C>T	ENSP00000216122:p.Ala192Val					MCM5_uc010gwr.2_Missense_Mutation_p.P2S|MCM5_uc003anv.3_Missense_Mutation_p.A149V|MCM5_uc010gws.1_5'Flank	p.A192V	NM_006739	NP_006730	P33992	MCM5_HUMAN			5	669	+			192					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.575C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016873	0.54576	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000416905;ENST00000444778	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	3.94	3.94	0.45596	Nucleic acid-binding, OB-fold-like (1);	0.187564	0.45606	D	0.000341	T	0.05090	0.0136	L	0.35542	1.07	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.15484	0.013;0.013	T	0.43163	-0.9408	10	0.19147	T	0.46	-16.8262	16.5319	0.84362	0.0:1.0:0.0:0.0	.	149;192	B1AHB1;P33992	.;MCM5_HUMAN	V	192;149;101;224;49	ENSP00000216122:A192V;ENSP00000371441:A149V;ENSP00000393977:A224V;ENSP00000408705:A49V	ENSP00000216122:A192V	A	+	2	0	MCM5	34132697	1.000000	0.71417	0.997000	0.53966	0.811000	0.45836	6.900000	0.75687	2.191000	0.70037	0.561000	0.74099	GCC		0.602	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
CSF2RB	1439	broad.mit.edu	37	22	37328885	37328885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:37328885G>A	ENST00000403662.3	+	9	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CSF2RB_ENST00000536485.1_Missense_Mutation_p.R311Q|CSF2RB_ENST00000262825.5_Missense_Mutation_p.R370Q|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R370Q			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	364	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R364Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAAAATGCGATACGAACAC	0.552																																						uc003aqa.3																			1	Substitution - Missense(1)		skin(1)	skin(2)|pancreas(1)	3						c.(1090-1092)CGA>CAA		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						134.0	98.0	110.0					22																	37328885		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37328885G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1091G>A	22.37:g.37328885G>A	ENSP00000384053:p.Arg364Gln					CSF2RB_uc003aqc.3_Missense_Mutation_p.R370Q	p.R364Q	NM_000395	NP_000386	P32927	IL3RB_HUMAN			9	1308	+			364			Extracellular (Potential).|Fibronectin type-III 2.		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1091G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	8.946	0.966963	0.18659	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.71	-9.42	0.00610	Fibronectin, type III (4);Immunoglobulin-like fold (1);	4.772160	0.00424	N	0.000067	T	0.26484	0.0647	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.04013	0.001;0.001	T	0.18241	-1.0343	10	0.28530	T	0.3	3.3602	1.2823	0.02043	0.1734:0.3392:0.2227:0.2648	.	370;364	P32927-2;P32927	.;IL3RB_HUMAN	Q	364;364;370;370;311	ENSP00000384053:R364Q;ENSP00000262825:R370Q;ENSP00000385271:R370Q;ENSP00000440003:R311Q	ENSP00000262825:R370Q	R	+	2	0	CSF2RB	35658831	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.007000	0.00649	-3.061000	0.00256	-0.514000	0.04452	CGA		0.552	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
FAM19A5	25817	broad.mit.edu	37	22	49042484	49042484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:49042484G>A	ENST00000402357.1	+	2	321	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.R56Q	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	63						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACGATCGCCCGGCAGACCGCC	0.692																																						uc003bim.3																			0				large_intestine(1)	1						c.(187-189)CGG>CAG		family with sequence similarity 19 (chemokine							23.0	29.0	27.0					22																	49042484		2058	4198	6256	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042484G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.188G>A	22.37:g.49042484G>A	ENSP00000383933:p.Arg63Gln					FAM19A5_uc003bio.3_Missense_Mutation_p.R56Q	p.R63Q	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	305	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	63					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.188G>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472641	0.96274	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.77356	0.4118	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.933;0.995	T	0.79771	-0.1663	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	56;63	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	Q	63;63;56	.	ENSP00000336812:R63Q	R	+	2	0	FAM19A5	47428920	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	CGG		0.692	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381	
MOV10L1	54456	broad.mit.edu	37	22	50596540	50596540	+	Missense_Mutation	SNP	G	G	A	rs368155014		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50596540G>A	ENST00000262794.5	+	23	3204	c.3121G>A	c.(3121-3123)Gtc>Atc	p.V1041I	MOV10L1_ENST00000354853.2_Missense_Mutation_p.V84I|MOV10L1_ENST00000395858.3_Missense_Mutation_p.V1041I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.V1021I|MOV10L1_ENST00000395843.1_Missense_Mutation_p.V84I|MOV10L1_ENST00000395852.1_Missense_Mutation_p.V168I|MOV10L1_ENST00000545383.1_Missense_Mutation_p.V1041I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1041					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCCGAGGCCGTCCAGGTCCT	0.587																																						uc003bjj.2																			0				ovary(2)|skin(1)	3						c.(3121-3123)GTC>ATC		MOV10-like 1 isoform 1		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	83.0	75.0	78.0		3121,3061,502,3121	3.7	0.9	22		78	1,8599		0,1,4299	no	missense,missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1041/1166,1021/1166,168/339,1041/1212	50596540	1,13005	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596540G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3121G>A	22.37:g.50596540G>A	ENSP00000262794:p.Val1041Ile					MOV10L1_uc003bjk.3_Missense_Mutation_p.V1041I|MOV10L1_uc011arp.1_Missense_Mutation_p.V1021I|MOV10L1_uc003bjl.2_Missense_Mutation_p.V168I|MOV10L1_uc003bjm.1_Missense_Mutation_p.V84I	p.V1041I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	23	3204	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1041					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3121G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.105679	0.77096	0.0	1.16E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.7	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.65975	2.015	0.46149	D	0.998898	D;P;P;D;D	0.89917	1.0;0.949;0.812;1.0;1.0	D;P;B;D;D	0.79784	0.993;0.55;0.247;0.984;0.984	D	0.86107	0.1560	10	0.44086	T	0.13	-25.4258	12.0316	0.53401	0.0867:0.0:0.9133:0.0	.	1021;84;168;1041;1041	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	I	1041;1041;1041;84;1021;168;84	ENSP00000438978:V1041I;ENSP00000262794:V1041I;ENSP00000379199:V1041I;ENSP00000379184:V84I;ENSP00000438542:V1021I;ENSP00000379193:V168I;ENSP00000346917:V84I	ENSP00000262794:V1041I	V	+	1	0	MOV10L1	48938667	1.000000	0.71417	0.935000	0.37517	0.510000	0.34073	8.677000	0.91203	1.097000	0.41459	-0.148000	0.13756	GTC		0.587	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
NCAPH2	29781	broad.mit.edu	37	22	50957116	50957116	+	Missense_Mutation	SNP	G	G	A	rs574318930		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50957116G>A	ENST00000420993.2	+	8	807	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	NCAPH2_ENST00000299821.11_Missense_Mutation_p.V229M|NCAPH2_ENST00000395698.3_Missense_Mutation_p.V229M|NCAPH2_ENST00000395701.3_Missense_Mutation_p.V229M	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	229					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAGTTTCCGTGTGCAGGAG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17962	0.0		0.0	False		,,,				2504	0.001					uc003blr.3																			0				ovary(1)|skin(1)	2						c.(685-687)GTG>ATG		kleisin beta isoform 2							36.0	31.0	32.0					22																	50957116		2203	4299	6502	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50957116G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.685G>A	22.37:g.50957116G>A	ENSP00000410088:p.Val229Met					NCAPH2_uc003blq.3_Missense_Mutation_p.V229M|NCAPH2_uc003blv.2_Missense_Mutation_p.V229M|NCAPH2_uc010hbb.2_Missense_Mutation_p.V80M|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.V229M|NCAPH2_uc003bly.3_RNA	p.V229M	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	8	807	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	229					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.685G>A	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383241	0.42207	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.56	-0.177	0.13307	.	2.260170	0.01773	N	0.031312	T	0.40196	0.1107	L	0.57536	1.79	0.09310	N	1	D;D;D;D;D	0.61080	0.969;0.969;0.989;0.975;0.983	B;B;P;P;P	0.48454	0.401;0.401;0.578;0.537;0.497	T	0.21042	-1.0257	9	0.30854	T	0.27	-5.5777	4.4796	0.11760	0.2882:0.1628:0.549:0.0	.	229;229;207;229;229	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;.;CNDH2_HUMAN;.	M	229;229;229;195;229	.	ENSP00000299821:V229M	V	+	1	0	NCAPH2	49303982	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.510000	0.06328	-0.126000	0.11682	-0.379000	0.06801	GTG		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	
IL5RA	3568	broad.mit.edu	37	3	3139680	3139680	+	Missense_Mutation	SNP	C	C	T	rs569914205		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:3139680C>T	ENST00000446632.2	-	7	1157	c.583G>A	c.(583-585)Gca>Aca	p.A195T	IL5RA_ENST00000383846.1_Missense_Mutation_p.A195T|IL5RA_ENST00000256452.3_Missense_Mutation_p.A195T|IL5RA_ENST00000418488.2_Missense_Mutation_p.A195T|IL5RA_ENST00000430514.2_Missense_Mutation_p.A195T|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000311981.8_Missense_Mutation_p.A195T|IL5RA_ENST00000456302.1_Missense_Mutation_p.A195T|IL5RA_ENST00000438560.1_Missense_Mutation_p.A195T	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	195					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.A195S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACCAGCATGCGATATTTCTC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20641	0.0		0.0	False		,,,				2504	0.001				GBM(169;430 2801 24955 28528)	uc011ask.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(583-585)GCA>ACA		interleukin 5 receptor, alpha isoform 1							174.0	149.0	157.0					3																	3139680		2203	4300	6503	SO:0001583	missense	3568				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3139680C>T	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.583G>A	3.37:g.3139680C>T	ENSP00000412209:p.Ala195Thr					IL5RA_uc010hbq.2_Missense_Mutation_p.A195T|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.A195T|IL5RA_uc011asl.1_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	p.A195T	NM_000564	NP_000555	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	8	1227	-			195			Extracellular (Potential).		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.583G>A	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757241	0.89843	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.91	5.91	0.95273	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.265673	0.32836	N	0.005589	T	0.74512	0.3726	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.75484	0.977;0.939;0.93;0.986;0.932	T	0.76271	-0.3020	10	0.62326	D	0.03	-29.8215	17.0178	0.86424	0.0:1.0:0.0:0.0	.	195;195;195;195;195	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	T	195	ENSP00000412209:A195T;ENSP00000390753:A195T;ENSP00000256452:A195T;ENSP00000388858:A195T;ENSP00000373358:A195T;ENSP00000309196:A195T;ENSP00000400400:A195T;ENSP00000392059:A195T;ENSP00000398117:A195T	ENSP00000256452:A195T	A	-	1	0	IL5RA	3114680	0.448000	0.25681	0.079000	0.20413	0.302000	0.27658	4.821000	0.62679	2.793000	0.96121	0.655000	0.94253	GCA		0.483	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
SCN5A	6331	broad.mit.edu	37	3	38620857	38620857	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:38620857T>C	ENST00000333535.4	-	18	3507	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000413689.1_Missense_Mutation_p.K1120E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1119E|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1119E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1119E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K1120E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1120E			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1120					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTCCGCTTTCCACTGCTGC	0.662																																						uc003cio.2																			0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(3358-3360)AAA>GAA		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						15.0	21.0	19.0					3																	38620857		2113	4196	6309	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38620857T>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3358A>G	3.37:g.38620857T>C	ENSP00000328968:p.Lys1120Glu					SCN5A_uc003cin.2_Missense_Mutation_p.K1119E|SCN5A_uc003cil.3_Missense_Mutation_p.K1120E|SCN5A_uc010hhi.2_Missense_Mutation_p.K1120E|SCN5A_uc010hhk.2_Missense_Mutation_p.K1119E|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhj.1_Missense_Mutation_p.K730E	p.K1120E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	18	3552	-	Medulloblastoma(35;0.163)		1120					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.3358A>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	1.266	-0.614364	0.03663	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.3	-4.54	0.03452	Sodium ion transport-associated (1);	1.910830	0.02501	N	0.090490	T	0.69333	0.3099	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.001;0.002	T	0.60791	-0.7193	10	0.02654	T	1	.	6.4646	0.21975	0.0:0.3092:0.4619:0.2289	.	1119;1120;1120;1120;1119;1120	E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	E	1120;1119;1120;1119;1120;1120;1119	ENSP00000398962:K1120E;ENSP00000398266:K1119E;ENSP00000410257:K1120E;ENSP00000397915:K1119E;ENSP00000416634:K1120E;ENSP00000328968:K1120E;ENSP00000399524:K1119E	ENSP00000328968:K1120E	K	-	1	0	SCN5A	38595861	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-1.120000	0.03273	-0.816000	0.04340	0.533000	0.62120	AAA		0.662	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
TTC21A	199223	broad.mit.edu	37	3	39152446	39152446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:39152446C>T	ENST00000431162.2	+	4	507	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000301819.6_Missense_Mutation_p.R125C|TTC21A_ENST00000440121.1_Missense_Mutation_p.R125C			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	125										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTCATAGGCCGCCATGACAA	0.502																																						uc003cjc.2																			0				ovary(1)	1						c.(373-375)CGC>TGC		tetratricopeptide repeat domain 21A isoform 2							71.0	75.0	73.0					3																	39152446		1972	4162	6134	SO:0001583	missense	199223						binding	g.chr3:39152446C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.373C>T	3.37:g.39152446C>T	ENSP00000398211:p.Arg125Cys					TTC21A_uc003cja.2_Missense_Mutation_p.R125C|TTC21A_uc010hho.1_Missense_Mutation_p.R88C|TTC21A_uc003cjb.2_Intron|TTC21A_uc003cje.2_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C	p.R125C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	4	550	+			125			TPR 2.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.373C>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828551	0.16749	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.65549	-0.16;-0.16;1.94	5.73	1.4	0.22301	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.229850	0.05643	N	0.583810	T	0.51363	0.1670	L	0.42744	1.35	0.09310	N	1	B;B;B;B;B	0.24483	0.104;0.017;0.002;0.001;0.017	B;B;B;B;B	0.21917	0.037;0.007;0.003;0.001;0.007	T	0.41875	-0.9484	10	0.49607	T	0.09	-0.3274	2.9604	0.05890	0.2169:0.5174:0.103:0.1628	.	125;125;125;125;125	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	C	125	ENSP00000301819:R125C;ENSP00000398211:R125C;ENSP00000410882:R125C	ENSP00000301819:R125C	R	+	1	0	TTC21A	39127450	0.002000	0.14202	0.009000	0.14445	0.143000	0.21401	0.264000	0.18497	0.341000	0.23771	-0.142000	0.14014	CGC		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
NBEAL2	23218	broad.mit.edu	37	3	47040042	47040042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:47040042C>T	ENST00000450053.3	+	22	3387	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1070C|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1070					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGATGCTCTGCGCACCCACTA	0.612											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cqp.2																			0				ovary(1)	1						c.(3208-3210)CGC>TGC		neurobeachin-like 2							42.0	45.0	44.0					3																	47040042		2050	4193	6243	SO:0001583	missense	23218						binding	g.chr3:47040042C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3208C>T	3.37:g.47040042C>T	ENSP00000415034:p.Arg1070Cys		OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	943	NBEAL2_uc010hjm.1_Missense_Mutation_p.R631C	p.R1070C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	22	3387	+		Acute lymphoblastic leukemia(5;0.0534)	1070					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.3208C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078568	0.76528	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.37411	1.2;1.2	5.31	5.31	0.75309	Armadillo-like helical (1);	0.116377	0.64402	D	0.000013	T	0.59649	0.2209	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61476	-0.7055	10	0.87932	D	0	.	17.7178	0.88342	0.0:1.0:0.0:0.0	.	1070	Q6ZNJ1	NBEL2_HUMAN	C	1070	ENSP00000292309:R1070C;ENSP00000415034:R1070C	ENSP00000292309:R1070C	R	+	1	0	NBEAL2	47015046	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	2.345000	0.44018	2.768000	0.95171	0.561000	0.74099	CGC		0.612	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NCKIPSD	51517	broad.mit.edu	37	3	48719898	48719898	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:48719898G>C	ENST00000294129.2	-	3	488	c.369C>G	c.(367-369)gaC>gaG	p.D123E	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D123E|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D123E	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	123					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGTGGTGGTCACTGGTTG	0.592																																						uc003cun.2																			0					0						c.(367-369)GAC>GAG		NCK interacting protein with SH3 domain isoform							110.0	112.0	111.0					3																	48719898		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719898G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.369C>G	3.37:g.48719898G>C	ENSP00000294129:p.Asp123Glu					NCKIPSD_uc003cum.2_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.1_Missense_Mutation_p.D123E	p.D123E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	463	-			123					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.369C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749211	0.30955	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.45668	0.89;1.56;1.56;1.48	4.71	2.89	0.33648	.	0.073208	0.53938	U	0.000054	T	0.23289	0.0563	L	0.33137	0.985	0.28857	N	0.895744	P;B;B	0.37015	0.578;0.227;0.336	B;B;B	0.35655	0.207;0.056;0.12	T	0.10800	-1.0614	10	0.08381	T	0.77	.	4.8419	0.13494	0.2994:0.1609:0.5397:0.0	.	123;123;123	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	E	123;123;123;123;45;7	ENSP00000342621:D123E;ENSP00000389059:D123E;ENSP00000294129:D123E;ENSP00000409675:D123E	ENSP00000294129:D123E	D	-	3	2	NCKIPSD	48694902	0.880000	0.30214	0.998000	0.56505	0.437000	0.31866	0.511000	0.22739	0.971000	0.38288	0.650000	0.86243	GAC		0.592	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	
P4HTM	54681	broad.mit.edu	37	3	49043241	49043241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:49043241G>A	ENST00000383729.4	+	7	1476	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	P4HTM_ENST00000343546.4_Missense_Mutation_p.V430I|WDR6_ENST00000448293.1_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	369	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTTGAACAACGTCACTGGTGG	0.542																																						uc003cvg.2																			0				skin(1)|pancreas(1)	2						c.(1105-1107)GTC>ATC		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						114.0	113.0	113.0					3																	49043241		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043241G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1105G>A	3.37:g.49043241G>A	ENSP00000373235:p.Val369Ile					P4HTM_uc003cvh.2_Missense_Mutation_p.V430I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.V369I	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			7	1454	+			369			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1105G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455231	0.96223	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59364	0.27	5.72	5.72	0.89469	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.061588	0.64402	D	0.000004	T	0.78997	0.4372	M	0.85945	2.785	0.44685	D	0.997679	D;D	0.89917	0.964;1.0	P;D	0.65323	0.813;0.934	T	0.81289	-0.1000	10	0.66056	D	0.02	-32.1262	19.8731	0.96858	0.0:0.0:1.0:0.0	.	430;369	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	I	369;430	ENSP00000373235:V369I	ENSP00000341422:V430I	V	+	1	0	P4HTM	49018245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.452000	0.97615	2.699000	0.92147	0.563000	0.77884	GTC		0.542	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938	
TMF1	7110	broad.mit.edu	37	3	69097037	69097037	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:69097037C>T	ENST00000398559.2	-	2	1035	c.819G>A	c.(817-819)gcG>gcA	p.A273A	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000543976.1_Silent_p.A273A|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	273					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGAGCTCGCTGAGCTCT	0.398																																						uc003dnn.2																			0					0						c.(817-819)GCG>GCA		TATA element modulatory factor 1							50.0	48.0	48.0					3																	69097037		1873	4109	5982	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097037C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.819G>A	3.37:g.69097037C>T						TMF1_uc011bfx.1_Silent_p.A273A	p.A273A	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	1066	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	273					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.819G>A	CCDS43105.1																																																																																				0.398	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
FILIP1L	11259	broad.mit.edu	37	3	99568062	99568062	+	Missense_Mutation	SNP	G	G	A	rs374898848		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:99568062G>A	ENST00000354552.3	-	5	2928	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R396C|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R580C|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R580C|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.R820C	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	820						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGACTGCACGTTCCAGAGGA	0.438																																						uc003dtm.2																			0				ovary(1)	1						c.(2458-2460)CGT>TGT		filamin A interacting protein 1-like isoform 1		G	CYS/ARG,CYS/ARG,CYS/ARG,	1,3923		0,1,1961	216.0	199.0	204.0		2458,1738,2458,	3.0	1.0	3		204	0,8304		0,0,4152	no	missense,missense,missense,intron	FILIP1L,C3orf26	NM_001042459.1,NM_014890.2,NM_182909.2,NM_032359.3	180,180,180,	0,1,6113	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,probably-damaging,probably-damaging,	820/1134,580/894,820/1136,	99568062	1,12227	1962	4152	6114	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568062G>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2458C>T	3.37:g.99568062G>A	ENSP00000346560:p.Arg820Cys					C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.2_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.2_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	p.R820C	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN			5	2921	-			820					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.2458C>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688374	0.48097	2.55E-4	0.0	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.30182	1.86;1.54;1.55;1.86;1.54;1.57	5.87	2.96	0.34315	.	0.159821	0.29508	N	0.011943	T	0.32526	0.0832	N	0.08118	0	0.47407	D	0.999419	D;D	0.76494	0.999;0.999	D;P	0.63703	0.917;0.828	T	0.29305	-1.0016	10	0.62326	D	0.03	-5.7434	14.8611	0.70382	0.0:0.0:0.6192:0.3808	.	820;820	Q4L180-2;Q4L180	.;FIL1L_HUMAN	C	820;396;580;820;580;566;580	ENSP00000346560:R820C;ENSP00000417774:R396C;ENSP00000419642:R580C;ENSP00000327880:R820C;ENSP00000373192:R580C;ENSP00000419874:R580C	ENSP00000327880:R820C	R	-	1	0	FILIP1L	101050752	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.743000	0.38258	0.309000	0.22966	0.655000	0.94253	CGT		0.438	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
KALRN	8997	broad.mit.edu	37	3	124017688	124017688	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124017688G>A	ENST00000240874.3	+	6	1171	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	KALRN_ENST00000360013.3_Silent_p.T338T|KALRN_ENST00000460856.1_Silent_p.T338T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	338					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGCCACACGGAGATCGGAG	0.512																																						uc003ehg.2																			0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1012-1014)ACG>ACA		kalirin, RhoGEF kinase isoform 1							218.0	198.0	205.0					3																	124017688		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124017688G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1014G>A	3.37:g.124017688G>A						KALRN_uc010hrv.1_Silent_p.T338T|KALRN_uc003ehf.1_Silent_p.T338T|KALRN_uc011bjy.1_Silent_p.T338T	p.T338T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			6	1141	+			338			Spectrin 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1014G>A	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	G	9.038	0.989051	0.18966	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.55	-4.39	0.03611	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51180	-0.8738	4	.	.	.	.	9.5195	0.39126	0.6065:0.0:0.2361:0.1574	.	.	.	.	Q	316	.	.	R	+	2	0	KALRN	125500378	0.000000	0.05858	0.926000	0.36857	0.993000	0.82548	-4.679000	0.00199	-0.839000	0.04212	-0.136000	0.14681	CGG		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
ZNF148	7707	broad.mit.edu	37	3	124951615	124951615	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124951615G>A	ENST00000360647.4	-	9	2440	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.A652V|ZNF148_ENST00000492394.1_Missense_Mutation_p.A652V|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.A652V|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	652					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGGCATGGTGGCATAGACCTG	0.443																																						uc003ehx.3																			0				skin(2)|ovary(1)|pancreas(1)	4						c.(1954-1956)GCC>GTC		zinc finger protein 148							179.0	180.0	180.0					3																	124951615		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951615G>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1955C>T	3.37:g.124951615G>A	ENSP00000353863:p.Ala652Val					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.A652V|ZNF148_uc010hsa.2_Missense_Mutation_p.A652V|ZNF148_uc003eia.3_Missense_Mutation_p.A652V|ZNF148_uc003ehy.2_Intron	p.A652V	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	2441	-			652					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1955C>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282394	0.40394	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.26	5.26	0.73747	.	0.269094	0.36134	N	0.002764	T	0.36608	0.0973	L	0.29908	0.895	0.80722	D	1	B	0.23377	0.084	B	0.20184	0.028	T	0.20505	-1.0273	10	0.87932	D	0	-11.6573	19.0462	0.93020	0.0:0.0:1.0:0.0	.	652	Q9UQR1	ZN148_HUMAN	V	652	ENSP00000353863:A652V;ENSP00000420335:A652V;ENSP00000419322:A652V;ENSP00000420448:A652V	ENSP00000353863:A652V	A	-	2	0	ZNF148	126434305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.564000	0.73969	2.732000	0.93576	0.591000	0.81541	GCC		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964	
CCDC37	348807	broad.mit.edu	37	3	126153184	126153184	+	Missense_Mutation	SNP	G	G	A	rs141942694		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:126153184G>A	ENST00000352312.1	+	15	1687	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	CCDC37_ENST00000505024.1_Missense_Mutation_p.E531K|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000393425.1_Missense_Mutation_p.E531K	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637																																						uc003eiu.1																			0				ovary(1)|skin(1)	2						c.(1588-1590)GAG>AAG		coiled-coil domain containing 37							56.0	57.0	57.0					3																	126153184		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126153184G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1588G>A	3.37:g.126153184G>A	ENSP00000344749:p.Glu530Lys					CCDC37_uc010hsg.1_Missense_Mutation_p.E531K	p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	15	1687	+			530			Potential.		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.1588G>A	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534240	0.64972	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.34667	1.35;1.35;1.35	4.92	4.03	0.46877	.	0.314966	0.36200	N	0.002734	T	0.52933	0.1765	L	0.58354	1.805	0.38571	D	0.949944	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.52366	-0.8585	10	0.27082	T	0.32	-26.2176	12.8956	0.58098	0.0:0.1652:0.8348:0.0	.	531;530	Q494V2-2;Q494V2	.;CCD37_HUMAN	K	530;531;531	ENSP00000344749:E530K;ENSP00000377076:E531K;ENSP00000423046:E531K	ENSP00000344749:E530K	E	+	1	0	CCDC37	127635874	0.999000	0.42202	0.784000	0.31847	0.551000	0.35334	3.675000	0.54605	1.031000	0.39867	0.467000	0.42956	GAG		0.637	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129155916G>A	ENST00000249910.1	-	3	746	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000429544.2_Missense_Mutation_p.P191S|MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases																														uc003emh.1																			0				ovary(1)|lung(1)	2						c.(571-573)CCG>TCG	BER_DNA_glycosylases	methyl-CpG binding domain protein 4							145.0	153.0	151.0					3																	129155916		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155916G>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.571C>T	3.37:g.129155916G>A	ENSP00000249910:p.Pro191Ser					MBD4_uc003emi.1_Missense_Mutation_p.P191S|MBD4_uc003emj.1_Missense_Mutation_p.P191S|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.P191S	p.P191S	NM_003925	NP_003916	O95243	MBD4_HUMAN			3	747	-			191					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.571C>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	G	5.883	0.347124	0.11126	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.92965	-2.93;-2.93;-3.14;-3.13	5.52	2.73	0.32206	.	1.116230	0.06686	N	0.768725	T	0.81422	0.4819	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.69785	-0.5051	10	0.56958	D	0.05	-0.0057	5.7883	0.18347	0.1473:0.0:0.5833:0.2694	.	191;191;191;191	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	S	191	ENSP00000394080:P191S;ENSP00000249910:P191S;ENSP00000424873:P191S;ENSP00000422327:P191S	ENSP00000249910:P191S	P	-	1	0	MBD4	130638606	0.004000	0.15560	0.005000	0.12908	0.003000	0.03518	0.522000	0.22909	0.289000	0.22422	-0.143000	0.13931	CCG		0.443	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925	
IFT122	55764	broad.mit.edu	37	3	129195512	129195512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129195512G>A	ENST00000348417.2	+	11	1092	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	IFT122_ENST00000431818.2_Missense_Mutation_p.G189S|IFT122_ENST00000504021.1_Missense_Mutation_p.G233S|IFT122_ENST00000347300.2_Missense_Mutation_p.G280S|IFT122_ENST00000296266.3_Missense_Mutation_p.G390S|IFT122_ENST00000349441.2_Missense_Mutation_p.G228S|IFT122_ENST00000507564.1_Missense_Mutation_p.G331S|IFT122_ENST00000440957.2_Missense_Mutation_p.G130S	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	339					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAGGTGGTCGGCTGCCAGGA	0.527																																						uc003emm.2																			0				ovary(1)|skin(1)	2						c.(1015-1017)GGC>AGC		WD repeat domain 10 isoform 2							88.0	93.0	91.0					3																	129195512		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129195512G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1015G>A	3.37:g.129195512G>A	ENSP00000324005:p.Gly339Ser					IFT122_uc003eml.2_Missense_Mutation_p.G390S|IFT122_uc003emn.2_Missense_Mutation_p.G280S|IFT122_uc003emo.2_Missense_Mutation_p.G228S|IFT122_uc003emp.2_Missense_Mutation_p.G189S|IFT122_uc010htc.2_Missense_Mutation_p.G331S|IFT122_uc011bky.1_Missense_Mutation_p.G130S|IFT122_uc003emq.2_Missense_Mutation_p.G179S|IFT122_uc003emr.2_Missense_Mutation_p.G130S|IFT122_uc011bla.1_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_RNA	p.G339S	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			11	1221	+			339			WD 6.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.1015G>A	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.757778|4.757778	0.89843|0.89843	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957|ENST00000512157;ENST00000515783	T;T;T;T;T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43|.	5.65|5.65	5.65|5.65	0.86999|0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85097|0.85097	0.5619|0.5619	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.991;0.987;0.987;0.99;1.0;0.999|.	D|D	0.86740|0.86740	0.1954|0.1954	10|5	0.72032|.	D|.	0.01|.	-28.714|-28.714	19.7278|19.7278	0.96172|0.96172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;331;233;179;228;280;339;390|.	E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1|.	.;.;.;.;.;.;IF122_HUMAN;.|.	S|Q	280;390;331;280;189;233;228;339;179;130|217;165	ENSP00000323973:G280S;ENSP00000296266:G390S;ENSP00000425536:G331S;ENSP00000410946:G189S;ENSP00000422179:G233S;ENSP00000324165:G228S;ENSP00000324005:G339S;ENSP00000401569:G130S|.	ENSP00000296266:G390S|.	G|R	+|+	1|2	0|0	IFT122|IFT122	130678202|130678202	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.485000|0.485000	0.33311|0.33311	9.369000|9.369000	0.97156|0.97156	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
CEP63	80254	broad.mit.edu	37	3	134226076	134226076	+	Missense_Mutation	SNP	G	G	A	rs370940310		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:134226076G>A	ENST00000337090.3	+	3	343	c.170G>A	c.(169-171)cGt>cAt	p.R57H	CEP63_ENST00000332047.5_Missense_Mutation_p.R57H|CEP63_ENST00000513612.2_Missense_Mutation_p.R57H|CEP63_ENST00000354446.3_Missense_Mutation_p.R57H|CEP63_ENST00000606977.1_Missense_Mutation_p.R57H|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000383229.3_Missense_Mutation_p.R57H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	57					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15608	0.0		0.0	False		,,,				2504	0.0					uc003eqo.1																			0				ovary(1)	1						c.(169-171)CGT>CAT		centrosomal protein 63 isoform a		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	111.0	112.0		170,170,170,170	5.2	1.0	3		112	0,8600		0,0,4300	no	missense,missense,missense,missense	CEP63	NM_001042383.1,NM_001042384.1,NM_001042400.1,NM_025180.3	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/496,57/476,57/542,57/704	134226076	1,13005	2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134226076G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.170G>A	3.37:g.134226076G>A	ENSP00000336524:p.Arg57His					CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.2_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	p.R57H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			4	619	+			57			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.170G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614129	0.66672	2.27E-4	0.0	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.25085	1.97;1.97;1.97;1.97;1.97;1.82;1.97	5.25	5.25	0.73442	.	0.196730	0.41823	D	0.000809	T	0.47746	0.1462	M	0.71581	2.175	0.38922	D	0.957753	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.978;0.987;0.982	T	0.46119	-0.9214	10	0.44086	T	0.13	-8.1035	11.4956	0.50406	0.0839:0.0:0.9161:0.0	.	57;57;57;57	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	H	57	ENSP00000328382:R57H;ENSP00000346432:R57H;ENSP00000424626:R57H;ENSP00000336524:R57H;ENSP00000372716:R57H;ENSP00000423225:R57H;ENSP00000426129:R57H	ENSP00000328382:R57H	R	+	2	0	CEP63	135708766	1.000000	0.71417	0.997000	0.53966	0.426000	0.31534	4.202000	0.58446	2.611000	0.88343	0.655000	0.94253	CGT		0.368	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
CPB1	1360	broad.mit.edu	37	3	148545842	148545842	+	Missense_Mutation	SNP	G	G	A	rs193238667	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:148545842G>A	ENST00000491148.1	+	3	459	c.125G>A	c.(124-126)cGc>cAc	p.R42H	CPB1_ENST00000282957.4_Missense_Mutation_p.R42H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	42						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R42H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACATAATCCGCGAGTTGGCC	0.363													G|||	6	0.00119808	0.0	0.0014	5008	,	,		21142	0.005		0.0	False		,,,				2504	0.0					uc003ewl.2																			1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(124-126)CGC>CAC		pancreatic carboxypeptidase B1 preproprotein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	102.0	102.0		125	1.1	0.0	3		102	0,8600		0,0,4300	yes	missense	CPB1	NM_001871.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	42/418	148545842	1,13005	2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148545842G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.125G>A	3.37:g.148545842G>A	ENSP00000417222:p.Arg42His						p.R42H	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		2	148	+			42					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.125G>A	CCDS33874.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	0.260	-1.000162	0.02128	2.27E-4	0.0	ENSG00000153002	ENST00000491148;ENST00000494888;ENST00000462345;ENST00000282957;ENST00000468341	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.78	1.06	0.20224	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.775200	0.12981	N	0.423269	T	0.04272	0.0118	N	0.04959	-0.14	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.35871	-0.9771	10	0.42905	T	0.14	.	8.128	0.31010	0.6497:0.0:0.3503:0.0	.	42	P15086	CBPB1_HUMAN	H	42	ENSP00000417222:R42H;ENSP00000419114:R42H;ENSP00000417117:R42H;ENSP00000282957:R42H;ENSP00000419427:R42H	ENSP00000282957:R42H	R	+	2	0	CPB1	150028532	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.703000	0.25646	0.094000	0.17404	-0.302000	0.09304	CGC		0.363	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
EPHB3	2049	broad.mit.edu	37	3	184298249	184298249	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:184298249C>T	ENST00000330394.2	+	12	2684	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	744	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCATTGCTGCCGGCATGAAGT	0.572																																						uc003foz.2																			0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(2230-2232)GCC>GCT		ephrin receptor EphB3 precursor							157.0	143.0	147.0					3																	184298249		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298249C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2232C>T	3.37:g.184298249C>T							p.A744A	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		12	2669	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		744			Cytoplasmic (Potential).|Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2232C>T	CCDS3268.1																																																																																				0.572	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
LIPH	200879	broad.mit.edu	37	3	185245282	185245282	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:185245282G>A	ENST00000296252.4	-	4	759	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_ENST00000424591.2_Intron	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	206					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527																																						uc003fpm.2																			0				ovary(1)|pancreas(1)	2						c.(616-618)TCC>TCT		lipase, member H precursor							285.0	237.0	253.0					3																	185245282		2203	4300	6503	SO:0001819	synonymous_variant	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185245282G>A	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.618C>T	3.37:g.185245282G>A						LIPH_uc010hyh.2_Intron	p.S206S	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		4	728	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		206					A2IBA7|Q8TEC7	Silent	SNP	ENST00000296252.4	37	c.618C>T	CCDS3272.1																																																																																				0.527	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
BCL6	604	broad.mit.edu	37	3	187442788	187442788	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:187442788G>A	ENST00000406870.2	-	9	2284	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R640W|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R584W	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	640					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAAGGTGCCGGAAACGGGTG	0.557			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1918-1920)CGG>TGG		B-cell lymphoma 6 protein isoform 1							111.0	109.0	110.0					3																	187442788		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187442788G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1918C>T	3.37:g.187442788G>A	ENSP00000384371:p.Arg640Trp					BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.1_Missense_Mutation_p.R640W	p.R640W	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	9	2375	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		640			C2H2-type 5.		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1918C>T	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446787	0.84101	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.07567	3.18;3.18;3.18	5.78	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.51914	1.62	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.87578	0.928;0.998	T	0.00768	-1.1574	10	0.87932	D	0	.	15.4974	0.75666	0.0:0.0:0.861:0.139	.	584;640	B8PSA7;P41182	.;BCL6_HUMAN	W	640;640;584	ENSP00000384371:R640W;ENSP00000232014:R640W;ENSP00000413122:R584W	ENSP00000232014:R640W	R	-	1	2	BCL6	188925482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.146000	0.50631	1.415000	0.47037	0.655000	0.94253	CGG		0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
TP63	8626	broad.mit.edu	37	3	189582118	189582118	+	Missense_Mutation	SNP	G	G	A	rs193921145		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:189582118G>A	ENST00000264731.3	+	5	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H	TP63_ENST00000440651.2_Missense_Mutation_p.R226H|TP63_ENST00000382063.4_Missense_Mutation_p.R141H|TP63_ENST00000392460.3_Missense_Mutation_p.R226H|TP63_ENST00000320472.5_Missense_Mutation_p.R226H|TP63_ENST00000354600.5_Missense_Mutation_p.R132H|TP63_ENST00000437221.1_Missense_Mutation_p.R132H|TP63_ENST00000392461.3_Missense_Mutation_p.R132H|TP63_ENST00000456148.1_Missense_Mutation_p.R132H|TP63_ENST00000392463.2_Missense_Mutation_p.R132H|TP63_ENST00000449992.1_Missense_Mutation_p.R47H|TP63_ENST00000418709.2_Missense_Mutation_p.R226H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	226					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTGTTATCCGCGCCATGCCT	0.522										HNSCC(45;0.13)																												uc003fry.2																			0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(676-678)CGC>CAC		tumor protein p63 isoform 1							125.0	123.0	123.0					3																	189582118		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582118G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.677G>A	3.37:g.189582118G>A	ENSP00000264731:p.Arg226His	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.R226H|TP63_uc003frz.2_Missense_Mutation_p.R226H|TP63_uc010hzc.1_Missense_Mutation_p.R226H|TP63_uc003fsa.2_Missense_Mutation_p.R132H|TP63_uc003fsb.2_Missense_Mutation_p.R132H|TP63_uc003fsc.2_Missense_Mutation_p.R132H|TP63_uc003fsd.2_Missense_Mutation_p.R132H|TP63_uc010hzd.1_Missense_Mutation_p.R47H|TP63_uc003fse.1_Missense_Mutation_p.R107H	p.R226H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	766	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		226					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.677G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494914	0.96339	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.85	5.85	0.93711	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.81914	0.992;0.992;0.992;0.992;0.992;0.988;0.993;0.992;0.995;0.992	D	0.97225	0.9880	9	.	.	.	-5.3324	19.1612	0.93533	0.0:0.0:1.0:0.0	.	47;226;226;132;132;132;132;226;226;226	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	H	226;226;226;226;226;141;132;132;132;132;47;132	ENSP00000264731:R226H;ENSP00000407144:R226H;ENSP00000317510:R226H;ENSP00000376253:R226H;ENSP00000394337:R226H;ENSP00000371495:R141H;ENSP00000346614:R132H;ENSP00000392488:R132H;ENSP00000376256:R132H;ENSP00000376254:R132H;ENSP00000387839:R47H;ENSP00000389485:R132H	.	R	+	2	0	TP63	191064812	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	CGC		0.522	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:2877779G>A	ENST00000398129.1	+	1	157	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_ENST00000446856.1_Missense_Mutation_p.R46H|ADD1_ENST00000398123.2_Missense_Mutation_p.R46H|ADD1_ENST00000264758.7_Missense_Mutation_p.R46H|ADD1_ENST00000355842.3_Missense_Mutation_p.R46H|ADD1_ENST00000503455.2_Missense_Mutation_p.R46H|ADD1_ENST00000513328.2_Missense_Mutation_p.R46H|ADD1_ENST00000398125.1_Missense_Mutation_p.R46H			P35611	ADDA_HUMAN	adducin 1 (alpha)	46					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2																			0				ovary(1)	1						c.(136-138)CGC>CAC		adducin 1 (alpha) isoform a							118.0	114.0	115.0					4																	2877779		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877779G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.137G>A	4.37:g.2877779G>A	ENSP00000381197:p.Arg46His					ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.2_Missense_Mutation_p.R46H|ADD1_uc003gfp.2_Missense_Mutation_p.R46H|ADD1_uc003gfq.2_Missense_Mutation_p.R46H|ADD1_uc003gfs.2_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	p.R46H	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	325	+			46					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.137G>A	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321310	0.95682	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.996;0.999;0.975;0.996;0.943	T	0.65492	-0.6155	10	0.87932	D	0	-17.3626	18.4459	0.90683	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;46	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	46	ENSP00000264758:R46H;ENSP00000399828:R46H;ENSP00000381193:R46H;ENSP00000421918:R46H;ENSP00000421907:R46H;ENSP00000426700:R46H;ENSP00000423024:R46H;ENSP00000348100:R46H;ENSP00000381191:R46H;ENSP00000381197:R46H	ENSP00000264758:R46H	R	+	2	0	ADD1	2847577	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	CGC		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189	
TMPRSS11F	389208	broad.mit.edu	37	4	68964683	68964683	+	Missense_Mutation	SNP	G	G	A	rs140054355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:68964683G>A	ENST00000356291.2	-	2	144	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	29						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGAGCTAGCCGTACTGAGTCC	0.378													G|||	5	0.000998403	0.0008	0.0029	5008	,	,		18800	0.0		0.002	False		,,,				2504	0.0					uc003hdt.1																			0				ovary(1)	1						c.(85-87)CGG>TGG		transmembrane protease, serine 11F		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	108.0	112.0		85	-3.2	0.0	4	dbSNP_134	112	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TMPRSS11F	NM_207407.2	101	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	29/439	68964683	9,12997	2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68964683G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.85C>T	4.37:g.68964683G>A	ENSP00000348639:p.Arg29Trp						p.R29W	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			2	134	-			29			Cytoplasmic (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.85C>T	CCDS3520.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	11.74	1.728130	0.30593	2.27E-4	9.3E-4	ENSG00000198092	ENST00000356291	D	0.88741	-2.42	5.12	-3.19	0.05171	.	0.147897	0.30320	N	0.009883	T	0.82051	0.4953	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.53062	0.717	T	0.79305	-0.1858	10	0.48119	T	0.1	.	15.9007	0.79373	0.0:0.0:0.1762:0.8238	.	29	Q6ZWK6	TM11F_HUMAN	W	29	ENSP00000348639:R29W	ENSP00000348639:R29W	R	-	1	2	TMPRSS11F	68647278	0.004000	0.15560	0.002000	0.10522	0.033000	0.12548	-0.121000	0.10643	-0.434000	0.07275	0.585000	0.79938	CGG		0.378	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
RXFP1	59350	broad.mit.edu	37	4	159567947	159567947	+	Silent	SNP	C	C	T	rs373779528		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:159567947C>T	ENST00000307765.5	+	16	1601	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RXFP1_ENST00000448688.2_Silent_p.A345A|RXFP1_ENST00000470033.1_Silent_p.A417A|RXFP1_ENST00000460056.2_Silent_p.A369A|RXFP1_ENST00000343542.5_Silent_p.A402A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	450					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCTAGGTGCCGACTGCTTAA	0.348																																						uc003ipz.2																			0					0						c.(1348-1350)GCC>GCT		relaxin/insulin-like family peptide receptor 1		T		0,3662		0,0,1831	118.0	106.0	110.0		1350	-11.3	0.7	4		110	1,8165		0,1,4082	no	coding-synonymous	RXFP1	NM_021634.2		0,1,5913	TT,TC,CC		0.0122,0.0,0.0085		450/758	159567947	1,11827	1831	4083	5914	SO:0001819	synonymous_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159567947C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1350C>T	4.37:g.159567947C>T						RXFP1_uc011cja.1_Silent_p.A345A|RXFP1_uc010iqo.2_Silent_p.A402A|RXFP1_uc011cjb.1_Silent_p.A348A|RXFP1_uc010iqk.2_Silent_p.A318A|RXFP1_uc011cjc.1_Silent_p.A369A|RXFP1_uc011cjd.1_Silent_p.A369A|RXFP1_uc010iql.2_Silent_p.A294A|RXFP1_uc011cje.1_Silent_p.A477A|RXFP1_uc010iqm.2_Silent_p.A417A|RXFP1_uc011cjf.1_Silent_p.A319A|RXFP1_uc010iqn.2_Silent_p.A395A	p.A450A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1432	+	all_hematologic(180;0.24)	Renal(120;0.0854)	450			Helical; Name=2; (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	c.1350C>T	CCDS43276.1																																																																																				0.348	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
ASB5	140458	broad.mit.edu	37	4	177143569	177143569	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:177143569A>G	ENST00000296525.3	-	3	392	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.G40G	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	93					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTACATTATAACCCTAAATGT	0.398																																						uc003iuq.1																			0				skin(2)	2						c.(277-279)GGT>GGC		ankyrin repeat and SOCS box-containing protein							96.0	96.0	96.0					4																	177143569		2203	4300	6503	SO:0001819	synonymous_variant	140458				intracellular signal transduction			g.chr4:177143569A>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.279T>C	4.37:g.177143569A>G						ASB5_uc003iup.1_Silent_p.G40G	p.G93G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	295	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	93			ANK 1.		Q8N7B5	Silent	SNP	ENST00000296525.3	37	c.279T>C	CCDS3827.1																																																																																				0.398	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:188924752C>T	ENST00000326866.4	+	4	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_ENST00000509524.1_Missense_Mutation_p.T264M	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	264					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483																																						uc003izg.1																			0				ovary(1)|skin(1)	2						c.(790-792)ACG>ATG		zinc finger protein 42							78.0	77.0	77.0					4																	188924752		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924752C>T	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.791C>T	4.37:g.188924752C>T	ENSP00000317686:p.Thr264Met					ZFP42_uc003izh.1_Missense_Mutation_p.T264M|ZFP42_uc003izi.1_Missense_Mutation_p.T264M	p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	1036	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	264			C2H2-type 3.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.791C>T	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507615	0.44558	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.50813	0.73;0.73	4.39	3.55	0.40652	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.38531	1.155	0.35697	D	0.815328	D	0.89917	1.0	D	0.81914	0.995	T	0.64989	-0.6277	10	0.59425	D	0.04	.	10.5007	0.44804	0.0:0.9042:0.0:0.0958	.	264	Q96MM3	ZFP42_HUMAN	M	264	ENSP00000317686:T264M;ENSP00000424662:T264M	ENSP00000317686:T264M	T	+	2	0	ZFP42	189161746	1.000000	0.71417	0.023000	0.16930	0.009000	0.06853	7.447000	0.80620	1.445000	0.47624	0.655000	0.94253	ACG		0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
NIPBL	25836	broad.mit.edu	37	5	36984865	36984865	+	Missense_Mutation	SNP	C	C	T	rs574981584		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:36984865C>T	ENST00000282516.8	+	10	2082	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T528M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	528					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCAGGAGACGGGTTCTACG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		16163	0.001		0.0	False		,,,				2504	0.0					uc003jkl.3																			0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1582-1584)ACG>ATG		delangin isoform A							172.0	180.0	177.0					5																	36984865		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36984865C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1583C>T	5.37:g.36984865C>T	ENSP00000282516:p.Thr528Met					NIPBL_uc003jkk.3_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	p.T528M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2082	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		528					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1583C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168083	0.57476	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94092	-3.35;-3.35	5.88	5.88	0.94601	.	0.108195	0.64402	D	0.000005	D	0.89829	0.6828	N	0.19112	0.55	0.43467	D	0.99567	P;P	0.46020	0.796;0.871	B;B	0.42361	0.215;0.385	D	0.90330	0.4351	10	0.52906	T	0.07	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	528;528	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	M	528	ENSP00000282516:T528M;ENSP00000406266:T528M	ENSP00000282516:T528M	T	+	2	0	NIPBL	37020622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.290000	0.59019	2.788000	0.95919	0.650000	0.86243	ACG		0.448	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
MAST4	375449	broad.mit.edu	37	5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:66416869C>T	ENST00000403625.2	+	14	1979	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_ENST00000405643.1_Nonsense_Mutation_p.R383*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.R368*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.R373*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.R565*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	565						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313																																						uc003jut.1																			0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(1117-1119)CGA>TGA		microtubule associated serine/threonine kinase							57.0	52.0	53.0					5																	66416869		1801	4069	5870	SO:0001587	stop_gained	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66416869C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1684C>T	5.37:g.66416869C>T	ENSP00000385727:p.Arg562*					MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.2_Nonsense_Mutation_p.R368*	p.R373*	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	13	1185	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	565					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	ENST00000403625.2	37	c.1117C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	37	6.556397	0.97663	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.93	4.98	0.66077	.	0.130773	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8082	15.9107	0.79470	0.2219:0.7781:0.0:0.0	.	.	.	.	X	565;562;373;383;383;368;368	.	ENSP00000261569:R368X	R	+	1	2	MAST4	66452625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.762000	0.47597	2.803000	0.96430	0.650000	0.86243	CGA		0.313	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
PDE8B	8622	broad.mit.edu	37	5	76709099	76709099	+	Missense_Mutation	SNP	G	G	A	rs376573598		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:76709099G>A	ENST00000264917.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	PDE8B_ENST00000346042.3_Missense_Mutation_p.A529T|PDE8B_ENST00000333194.4_Missense_Mutation_p.A571T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A91T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A579T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A606T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	626	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CGTCCTGCACGCCACCGCTTT	0.478																																						uc003kfa.2																			0					0						c.(1876-1878)GCC>ACC		phosphodiesterase 8B isoform 1		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	142.0	127.0	132.0		1585,1711,1816,1735,1876	5.6	1.0	5		132	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDE8B	NM_001029851.2,NM_001029852.2,NM_001029853.2,NM_001029854.2,NM_003719.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	529/789,571/831,606/866,579/839,626/886	76709099	1,13005	2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76709099G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1876G>A	5.37:g.76709099G>A	ENSP00000264917:p.Ala626Thr					PDE8B_uc003kfb.2_Missense_Mutation_p.A606T|PDE8B_uc003kfc.2_Missense_Mutation_p.A571T|PDE8B_uc003kfd.2_Missense_Mutation_p.A579T|PDE8B_uc003kfe.2_Missense_Mutation_p.A529T	p.A626T	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	17	1921	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	626			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1876G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150662	0.94645	2.27E-4	0.0	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.59	5.59	0.84812	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.86867	0.2033	10	0.87932	D	0	.	19.5754	0.95441	0.0:0.0:1.0:0.0	.	529;579;571;606;626	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	579;529;626;606;571;91	ENSP00000345446:A579T;ENSP00000330428:A529T;ENSP00000264917:A626T;ENSP00000345646:A606T;ENSP00000331336:A571T;ENSP00000423461:A91T	ENSP00000264917:A626T	A	+	1	0	PDE8B	76744855	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	9.804000	0.99143	2.620000	0.88729	0.561000	0.74099	GCC		0.478	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
FBXL17	64839	broad.mit.edu	37	5	107684192	107684192	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:107684192C>T	ENST00000542267.1	-	4	1820	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	FBXL17_ENST00000359660.5_Missense_Mutation_p.G74S|FBXL17_ENST00000496714.1_Missense_Mutation_p.G74S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	472										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TAACACTGGCCGAAATGAATA	0.368																																						uc011cvc.1																			0					0						c.(1414-1416)GGC>AGC		F-box and leucine-rich repeat protein 17							140.0	131.0	134.0					5																	107684192		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107684192C>T	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1414G>A	5.37:g.107684192C>T	ENSP00000437464:p.Gly472Ser					FBXL17_uc003kon.3_Missense_Mutation_p.G74S	p.G472S	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	4	1821	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	472					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1414G>A	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596542	0.66332	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.22743	1.94;1.94;1.94	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	N	0.11106	0.095	0.80722	D	1	P;D	0.76494	0.954;0.999	B;P	0.58454	0.429;0.839	T	0.01771	-1.1277	10	0.02654	T	1	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	472;74	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	S	74;472;74	ENSP00000352683:G74S;ENSP00000437464:G472S;ENSP00000418111:G74S	ENSP00000352683:G74S	G	-	1	0	FBXL17	107712091	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.463000	0.80869	2.716000	0.92895	0.655000	0.94253	GGC		0.368	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
KCNN2	3781	broad.mit.edu	37	5	113740527	113740527	+	Silent	SNP	C	C	T	rs147034356		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:113740527C>T	ENST00000512097.3	+	4	1993	c.975C>T	c.(973-975)gcC>gcT	p.A325A	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.A325A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	325					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GGATAATTGCCGCATGGACTG	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18442	0.0		0.0	False		,,,				2504	0.0					uc003kqo.2																			0				ovary(2)	2						c.(973-975)GCC>GCT		small conductance calcium-activated potassium		C		7,4397	12.9+/-30.5	0,7,2195	133.0	133.0	133.0		975	-0.1	1.0	5	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	KCNN2	NM_021614.2		0,7,6495	TT,TC,CC		0.0,0.1589,0.0538		325/580	113740527	7,12997	2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113740527C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.975C>T	5.37:g.113740527C>T							p.A325A	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	3	1432	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	325			Helical; Name=Segment S5; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.975C>T	CCDS4114.1																																																																																				0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
PCDHA3	56145	broad.mit.edu	37	5	140180853	140180853	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140180853C>T	ENST00000522353.2	+	1	71	c.71C>T	c.(70-72)tCg>tTg	p.S24L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S24L|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	24					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCAGCCTCGGAGGTGGGG	0.597																																						uc003lhf.2																			0				ovary(6)|skin(2)	8						c.(70-72)TCG>TTG		protocadherin alpha 3 isoform 1 precursor							59.0	65.0	63.0					5																	140180853		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180853C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.71C>T	5.37:g.140180853C>T	ENSP00000429808:p.Ser24Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S24L	p.S24L	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	71	+			24					O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.71C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	N	3.039	-0.197867	0.06219	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50813	0.82;0.73	4.65	3.78	0.43462	.	0.209202	0.24229	U	0.040374	T	0.31888	0.0811	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28235	-1.0050	10	0.54805	T	0.06	.	13.5606	0.61786	0.0:0.2988:0.7012:0.0	.	24;24	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	24	ENSP00000429808:S24L;ENSP00000434086:S24L	ENSP00000429808:S24L	S	+	2	0	PCDHA3	140161037	1.000000	0.71417	0.935000	0.37517	0.044000	0.14063	2.629000	0.46485	1.105000	0.41606	-0.204000	0.12730	TCG		0.597	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA4	56144	broad.mit.edu	37	5	140188279	140188279	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140188279G>A	ENST00000530339.1	+	1	1507	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503T|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGAGCGCGCGCTGTCGAG	0.662																																						uc003lhi.2																			0				ovary(4)|skin(2)	6						c.(1507-1509)GCG>ACG		protocadherin alpha 4 isoform 1 precursor							54.0	55.0	55.0					5																	140188279		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188279G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1507G>A	5.37:g.140188279G>A	ENSP00000435300:p.Ala503Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A503T|PCDHA4_uc011daa.1_Missense_Mutation_p.A503T	p.A503T	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1608	+			503			Cadherin 5.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1507G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	10.70	1.422976	0.25639	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.52983	0.7;0.64;0.68	4.18	-1.28	0.09318	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.23094	0.0558	N	0.10874	0.06	0.09310	N	1	B;P;B	0.35033	0.362;0.481;0.416	B;B;B	0.37550	0.072;0.253;0.113	T	0.14811	-1.0459	10	0.62326	D	0.03	.	1.7485	0.02967	0.1824:0.4049:0.1981:0.2145	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	503	ENSP00000423470:A503T;ENSP00000349344:A503T;ENSP00000435300:A503T	ENSP00000349344:A503T	A	+	1	0	PCDHA4	140168463	0.000000	0.05858	0.470000	0.27216	0.651000	0.38670	-0.431000	0.06965	-0.017000	0.14103	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHB4	56131	broad.mit.edu	37	5	140502471	140502471	+	Silent	SNP	G	G	A	rs375984500	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140502471G>A	ENST00000194152.1	+	1	891	c.891G>A	c.(889-891)acG>acA	p.T297T	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGTCACGGGAGAAATAC	0.358													G|||	4	0.000798722	0.0	0.0	5008	,	,		20032	0.0		0.0	False		,,,				2504	0.0041					uc003lip.1																			0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(889-891)ACG>ACA		protocadherin beta 4 precursor							86.0	103.0	97.0					5																	140502471		2197	4298	6495	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502471G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.891G>A	5.37:g.140502471G>A							p.T297T	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	891	+			297			Cadherin 3.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.891G>A	CCDS4246.1																																																																																				0.358	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938	
PCDHGA1	56114	broad.mit.edu	37	5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140712338C>T	ENST00000517417.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A696V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672																																						uc003lji.1																			2	Substitution - Missense(2)		endometrium(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(2086-2088)GCG>GTG		protocadherin gamma subfamily A, 1 isoform 1							73.0	84.0	81.0					5																	140712338		2203	4296	6499	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712338C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2087C>T	5.37:g.140712338C>T	ENSP00000431083:p.Ala696Val					PCDHGA1_uc011dan.1_Missense_Mutation_p.A696V	p.A696V	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2087	+			696			Helical; (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2087C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726327	0.69074	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.68	3.87	3.87	0.44632	.	0.000000	0.49305	D	0.000160	T	0.76543	0.4002	H	0.96916	3.905	0.35183	D	0.772664	D;D	0.76494	0.981;0.999	P;D	0.65140	0.89;0.932	D	0.88648	0.3180	10	0.87932	D	0	.	14.1628	0.65457	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	696	ENSP00000431083:A696V;ENSP00000367345:A696V	ENSP00000367345:A696V	A	+	2	0	PCDHGA1	140692522	0.111000	0.22076	0.925000	0.36789	0.038000	0.13279	2.489000	0.45285	2.162000	0.67917	0.585000	0.79938	GCG		0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGB6	56100	broad.mit.edu	37	5	140789386	140789386	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140789386G>A	ENST00000520790.1	+	1	1617	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCTCGCCCACGCTCA	0.701																																						uc003lkj.1																			0					0						c.(1615-1617)TCG>TCA		protocadherin gamma subfamily B, 6 isoform 1							14.0	19.0	18.0					5																	140789386		2020	4160	6180	SO:0001819	synonymous_variant	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140789386G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1617G>A	5.37:g.140789386G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Silent_p.S539S	p.S539S	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1617	+			539			Extracellular (Potential).|Cadherin 5.		Q9Y5C5	Silent	SNP	ENST00000520790.1	37	c.1617G>A	CCDS54929.1																																																																																				0.701	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGA11	56105	broad.mit.edu	37	5	140802272	140802272	+	Missense_Mutation	SNP	C	C	T	rs371027437		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140802272C>T	ENST00000398587.2	+	1	1511	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T493M|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTCTGACGGATGACACT	0.532																																						uc003lkq.1																			0					0						c.(1477-1479)ACG>ATG		protocadherin gamma subfamily A, 11 isoform 1							88.0	97.0	94.0					5																	140802272		2100	4251	6351	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802272C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1478C>T	5.37:g.140802272C>T	ENSP00000381589:p.Thr493Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.T493M|PCDHGA11_uc003lkp.1_Missense_Mutation_p.T493M	p.T493M	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1736	+			493			Extracellular (Potential).|Cadherin 5.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1478C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	0.603	-0.828341	0.02734	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01804	4.63;4.63	6.02	-12.0	0.00017	Cadherin (4);Cadherin-like (1);	19.832600	0.03049	U	0.154395	T	0.01061	0.0035	N	0.16201	0.385	0.09310	N	1	B;B;B	0.29627	0.098;0.252;0.134	B;B;B	0.23419	0.046;0.046;0.016	T	0.40059	-0.9583	10	0.45353	T	0.12	.	7.7575	0.28933	0.1341:0.1937:0.0634:0.6088	.	493;493;493	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	493	ENSP00000381589:T493M;ENSP00000428333:T493M	ENSP00000381589:T493M	T	+	2	0	PCDHGA11	140782456	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.803000	0.01740	-2.080000	0.00870	-1.695000	0.00724	ACG		0.532	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PDGFRB	5159	broad.mit.edu	37	5	149497261	149497261	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:149497261G>A	ENST00000261799.4	-	22	3526	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1019					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.N1019N(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATATAGTCGTTGTCACCCT	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(3055-3057)AAC>AAT		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						101.0	98.0	99.0					5																	149497261		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497261G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3057C>T	5.37:g.149497261G>A						PDGFRB_uc010jhd.2_Silent_p.N858N	p.N1019N	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3526	-		all_hematologic(541;0.224)	1019			Cytoplasmic (Potential).		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3057C>T	CCDS4303.1																																																																																				0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
FGF18	8817	broad.mit.edu	37	5	170883601	170883601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:170883601C>T	ENST00000274625.5	+	5	960	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	139					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACTACACGGCCCTGATG	0.592																																						uc003mbk.2																			0					0						c.(415-417)ACG>ATG		fibroblast growth factor 18 precursor							96.0	95.0	95.0					5																	170883601		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883601C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.416C>T	5.37:g.170883601C>T	ENSP00000274625:p.Thr139Met						p.T139M	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	953	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	139					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.416C>T	CCDS4378.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326253	0.81580	.	.	ENSG00000156427	ENST00000274625	D	0.81996	-1.56	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94514	0.7721	10	0.87932	D	0	-2.3042	18.4784	0.90802	0.0:1.0:0.0:0.0	.	139	O76093	FGF18_HUMAN	M	139	ENSP00000274625:T139M	ENSP00000274625:T139M	T	+	2	0	FGF18	170816206	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.487000	0.81328	2.468000	0.83385	0.655000	0.94253	ACG		0.592	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862	
TSPAN17	26262	broad.mit.edu	37	5	176078841	176078841	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:176078841G>A	ENST00000503045.1	+	3	280	c.225G>A	c.(223-225)tcG>tcA	p.S75S	TSPAN17_ENST00000508164.1_Silent_p.S75S|TSPAN17_ENST00000310032.8_Silent_p.S75S|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000515708.1_Silent_p.S75S|TSPAN17_ENST00000405525.2_Silent_p.S75S			Q96FV3	TSN17_HUMAN	tetraspanin 17	75					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTCATGTCGGTGCTGGGCT	0.612																																						uc003met.2																			0					0						c.(223-225)TCG>TCA		transmembrane 4 superfamily member 17 isoform a							157.0	149.0	152.0					5																	176078841		2203	4300	6503	SO:0001819	synonymous_variant	26262					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:176078841G>A	AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.225G>A	5.37:g.176078841G>A						TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.2_Silent_p.S75S|TSPAN17_uc003mev.2_Silent_p.S75S|TSPAN17_uc003mew.2_Silent_p.S75S	p.S75S	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	454	+	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	75			Helical; (Potential).		Q6NXF7|Q96S98|Q9UKB9	Silent	SNP	ENST00000503045.1	37	c.225G>A																																																																																					0.612	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1		
WRNIP1	56897	broad.mit.edu	37	6	2770518	2770518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:2770518C>T	ENST00000380773.4	+	3	1388	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	WRNIP1_ENST00000380769.4_Silent_p.I173I|WRNIP1_ENST00000380771.4_Silent_p.I368I|WRNIP1_ENST00000380764.1_Silent_p.I9I	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGAGCGATCAACTCCCTGG	0.532																																						uc003mtz.2																			0				ovary(1)|pancreas(1)	2						c.(1177-1179)ATC>ATT		Werner helicase interacting protein isoform 1							126.0	115.0	119.0					6																	2770518		2203	4300	6503	SO:0001819	synonymous_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770518C>T	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1179C>T	6.37:g.2770518C>T						WRNIP1_uc003mua.2_Silent_p.I368I	p.I393I	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			3	1370	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	393						Silent	SNP	ENST00000380773.4	37	c.1179C>T	CCDS4475.1																																																																																				0.532	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395	
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7987550	7987550	+	Intron	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:7987550C>T	ENST00000439343.2	-	4	372				TXNDC5_ENST00000539054.1_Intron					BLOC1S5-TXNDC5 readthrough (NMD candidate)																		CCAGAAAGAGCGAGAGAAGCC	0.428																																						uc003mxx.3																			0					0						c.(781-783)CGA>TGA		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																				SO:0001627	intron_variant	206426							g.chr6:7987550C>T			6p24.3	2013-05-09	2013-05-09	2012-08-01	ENSG00000259040	ENSG00000259040			42001	other	readthrough			"""MUTED-TXNDC5 readthrough (non-protein coding)"""	MUTED-TXNDC5			Standard	NR_037616		Approved				OTTHUMG00000171453	ENST00000439343.2:c.372+39049G>A	6.37:g.7987550C>T						TXNDC5_uc003mxw.2_Intron	p.R261*	NR_027712						1	1216	+									Nonsense_Mutation	SNP	ENST00000439343.2	37	c.781C>T																																																																																					0.428	BLOC1S5-TXNDC5-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413472.1	NR_037616.1	
SLC35B3	51000	broad.mit.edu	37	6	8422856	8422856	+	Splice_Site	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:8422856T>C	ENST00000379660.4	-	5	870	c.421A>G	c.(421-423)Ata>Gta	p.I141V	SLC35B3_ENST00000339306.5_Splice_Site_p.I141V	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	141					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTTCCTGGTATTCTGTAAAAG	0.338																																					Melanoma(83;700 1353 9357 11478 30548)	uc010joe.2																			0					0						c.(421-423)ATA>GTA		solute carrier family 35, member B3							83.0	81.0	82.0					6																	8422856		2203	4300	6503	SO:0001630	splice_region_variant	51000				transmembrane transport	Golgi membrane|integral to membrane		g.chr6:8422856T>C	AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.420-1A>G	6.37:g.8422856T>C						SLC35B3_uc003mya.2_Missense_Mutation_p.I109V|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Missense_Mutation_p.I141V|SLC35B3_uc011did.1_Missense_Mutation_p.I141V|SLC35B3_uc003myd.2_RNA	p.I141V	NM_001142541	NP_001136013	Q9H1N7	S35B3_HUMAN			5	587	-	Ovarian(93;0.0569)		141					A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Missense_Mutation	SNP	ENST00000379660.4	37	c.421A>G	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443145	0.25987	.	.	ENSG00000124786	ENST00000379660;ENST00000339306	T;T	0.31769	1.48;1.48	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	L	0.31664	0.95	0.80722	D	1	B;B	0.34103	0.437;0.41	B;B	0.42882	0.326;0.401	T	0.07986	-1.0744	9	.	.	.	-22.3145	15.0448	0.71819	0.0:0.0:0.0:1.0	.	141;141	Q9H1N7;B2R8V5	S35B3_HUMAN;.	V	141	ENSP00000368981:I141V;ENSP00000345902:I141V	.	I	-	1	0	SLC35B3	8367855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.860000	0.86993	2.021000	0.59480	0.477000	0.44152	ATA		0.338	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948	Missense_Mutation
HIVEP1	3096	broad.mit.edu	37	6	12124017	12124017	+	Missense_Mutation	SNP	C	C	T	rs201788958	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:12124017C>T	ENST00000379388.2	+	4	4321	c.3989C>T	c.(3988-3990)aCg>aTg	p.T1330M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTCTAAAACGGAGGCTTCC	0.433																																						uc003nac.2																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3988-3990)ACG>ATG		human immunodeficiency virus type I enhancer		C	MET/THR	0,3706		0,0,1853	55.0	52.0	53.0		3989	2.5	0.0	6		53	6,8208		0,6,4101	yes	missense	HIVEP1	NM_002114.2	81	0,6,5954	TT,TC,CC		0.073,0.0,0.0503	benign	1330/2719	12124017	6,11914	1853	4107	5960	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124017C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3989C>T	6.37:g.12124017C>T	ENSP00000368698:p.Thr1330Met					HIVEP1_uc011diq.1_RNA	p.T1330M	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4168	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1330					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3989C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	2.776	-0.254686	0.05829	0.0	7.3E-4	ENSG00000095951	ENST00000379388	T	0.12879	2.64	5.68	2.46	0.29980	.	0.699718	0.11826	N	0.525677	T	0.04861	0.0131	L	0.60455	1.87	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.36286	-0.9754	9	.	.	.	-1.1448	7.4663	0.27324	0.1196:0.6037:0.0:0.2767	.	1330	P15822	ZEP1_HUMAN	M	1330	ENSP00000368698:T1330M	.	T	+	2	0	HIVEP1	12232003	0.004000	0.15560	0.020000	0.16555	0.285000	0.27093	1.995000	0.40767	0.730000	0.32425	0.655000	0.94253	ACG		0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
SIRT5	23408	broad.mit.edu	37	6	13588650	13588650	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:13588650C>T	ENST00000606117.1	+	4	499	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SIRT5_ENST00000359782.3_Missense_Mutation_p.P68L|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000379262.4_Missense_Mutation_p.P68L	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGTGGTGTTCCGACCTTCAGA	0.423																																						uc003nay.2																			0				skin(2)|upper_aerodigestive_tract(1)	3						c.(202-204)CCG>CTG		sirtuin 5 isoform 1	Suramin(DB04786)						95.0	87.0	90.0					6																	13588650		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13588650C>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.203C>T	6.37:g.13588650C>T	ENSP00000476228:p.Pro68Leu					SIRT5_uc003naw.2_Missense_Mutation_p.P68L|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.P68L	p.P68L	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		4	499	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	68			NAD.|Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.203C>T	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044673	0.75732	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.69561	-0.41;-0.41;-0.41	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.86822	0.6025	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.996	D	0.91551	0.5257	10	0.87932	D	0	-19.4538	17.9952	0.89181	0.0:1.0:0.0:0.0	.	68;68;68	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	L	68	ENSP00000352830:P68L;ENSP00000368564:P68L;ENSP00000368552:P68L	ENSP00000352830:P68L	P	+	2	0	SIRT5	13696629	1.000000	0.71417	0.389000	0.26208	0.498000	0.33706	7.478000	0.81082	2.335000	0.79485	0.650000	0.86243	CCG		0.423	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2		
ZBED9	114821	broad.mit.edu	37	6	28554340	28554340	+	Missense_Mutation	SNP	C	C	T	rs200336287		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:28554340C>T	ENST00000452236.2	-	1	772	c.155G>A	c.(154-156)cGt>cAt	p.R52H	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAAGCGCTGACGAGAGAGTTC	0.507																																						uc003nlo.2																			0				ovary(1)	1						c.(154-156)CGT>CAT		SCAN domain containing 3							99.0	94.0	96.0					6																	28554340		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554340C>T																												ENST00000452236.2:c.155G>A	6.37:g.28554340C>T	ENSP00000395259:p.Arg52His					uc003nlp.1_5'Flank	p.R52H	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			1	773	-			52			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.155G>A	CCDS34355.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.2	3.956534	0.73902	.	.	ENSG00000232040	ENST00000452236	T	0.07444	3.19	3.46	1.57	0.23409	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10380	0.0254	M	0.70595	2.14	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.13872	-1.0493	9	0.87932	D	0	.	2.3422	0.04263	0.1949:0.5026:0.1901:0.1124	.	52	Q6R2W3	SCND3_HUMAN	H	52	ENSP00000395259:R52H	ENSP00000395259:R52H	R	-	2	0	SCAND3	28662319	0.047000	0.20315	0.259000	0.24435	0.672000	0.39443	1.894000	0.39768	0.244000	0.21351	0.655000	0.94253	CGT		0.507	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
CSNK2B	1460	broad.mit.edu	37	6	31637206	31637206	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31637206G>A	ENST00000375882.2	+	6	634	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.G160S|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.G160S|CSNK2B_ENST00000375865.2_Missense_Mutation_p.G160S|CSNK2B_ENST00000375885.4_Missense_Mutation_p.G179S|LY6G5B_ENST00000409525.1_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	160					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CGCCTACTTCGGCACTGGTTT	0.562																																						uc003nvr.1																			0					0						c.(478-480)GGC>AGC		casein kinase 2, beta polypeptide							116.0	100.0	105.0					6																	31637206		2203	4300	6503	SO:0001583	missense	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637206G>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.478G>A	6.37:g.31637206G>A	ENSP00000365042:p.Gly160Ser					CSNK2B_uc003nvs.1_Missense_Mutation_p.G160S|LY6G5B_uc003nvt.1_5'Flank	p.G160S	NM_001320	NP_001311	P67870	CSK2B_HUMAN			6	818	+			160					B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.478G>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095441	0.94197	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	6.17	5.31	0.75309	Casein kinase II, regulatory subunit, beta-sheet (1);	0.053774	0.64402	D	0.000001	D	0.86016	0.5832	H	0.98048	4.135	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91438	0.5171	8	0.87932	D	0	-20.0966	13.5664	0.61822	0.0747:0.0:0.9253:0.0	.	160;160	Q5SRQ3;P67870	.;CSK2B_HUMAN	S	179;160;160;160;160	.	ENSP00000365025:G160S	G	+	1	0	CSNK2B	31745185	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	7.211000	0.77933	1.626000	0.50381	0.655000	0.94253	GGC		0.562	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320	
EHMT2	10919	broad.mit.edu	37	6	31852241	31852241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31852241G>A	ENST00000375537.4	-	21	2705	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	EHMT2_ENST00000375530.4_Missense_Mutation_p.A866V|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.A957V|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.A923V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	900					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGTTGAAGCGCAAACCACAC	0.612																																						uc003nxz.1																			0				ovary(1)	1						c.(2698-2700)GCG>GTG		euchromatic histone-lysine N-methyltransferase 2							134.0	126.0	129.0					6																	31852241		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31852241G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2699C>T	6.37:g.31852241G>A	ENSP00000364687:p.Ala900Val					EHMT2_uc003nxv.1_5'UTR|EHMT2_uc003nxw.1_5'UTR|EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	p.A900V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			21	2709	-			900					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2699C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076365	0.55753	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.71341	-0.56;-0.44;-0.38;-0.55	5.34	5.34	0.76211	.	0.187461	0.45126	D	0.000391	T	0.50990	0.1648	L	0.58428	1.81	0.54753	D	0.999985	P;P;P;B	0.46512	0.772;0.854;0.879;0.065	B;B;B;B	0.28232	0.039;0.058;0.087;0.009	T	0.61237	-0.7103	10	0.39692	T	0.17	.	17.8774	0.88829	0.0:0.0:1.0:0.0	.	923;866;900;721	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	V	957;923;866;900;721	ENSP00000379078:A957V;ENSP00000364678:A923V;ENSP00000364680:A866V;ENSP00000364687:A900V	ENSP00000364678:A923V	A	-	2	0	EHMT2	31960220	1.000000	0.71417	0.984000	0.44739	0.114000	0.19823	9.026000	0.93700	2.508000	0.84585	0.549000	0.68633	GCG		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
CYP21A2	1589	broad.mit.edu	37	6	32008215	32008215	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:32008215C>T	ENST00000418967.2	+	8	1130	c.972C>T	c.(970-972)caC>caT	p.H324H	CYP21A2_ENST00000435122.2_Silent_p.H294H	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	323					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AGCTAGACCACGAACTGGGCC	0.677																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1																			0					0						c.(970-972)CAC>CAT		cytochrome P450, family 21, subfamily A,							39.0	32.0	34.0					6																	32008215		2202	4298	6500	SO:0001819	synonymous_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32008215C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.972C>T	6.37:g.32008215C>T						CYP21A2_uc003nzf.1_Silent_p.H294H	p.H324H	NM_000500	NP_000491	P08686	CP21A_HUMAN			8	1090	+			323					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	ENST00000418967.2	37	c.972C>T	CCDS4735.1																																																																																				0.677	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
USP49	25862	broad.mit.edu	37	6	41773646	41773646	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:41773646C>T	ENST00000394253.3	-	3	1405	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	USP49_ENST00000373009.3_Missense_Mutation_p.R359H|USP49_ENST00000373010.1_Missense_Mutation_p.R359H|USP49_ENST00000297229.2_Missense_Mutation_p.R359H|USP49_ENST00000373006.1_Missense_Mutation_p.R359H			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	359	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCAGTTCACGGCAGAGGGA	0.602																																						uc003ori.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1075-1077)CGT>CAT		ubiquitin thioesterase 49							67.0	65.0	66.0					6																	41773646		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773646C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1076G>A	6.37:g.41773646C>T	ENSP00000377797:p.Arg359His						p.R359H	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1298	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		359					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.1076G>A		.	.	.	.	.	.	.	.	.	.	C	3.818	-0.038322	0.07497	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.1	3.98	0.46160	.	0.089576	0.85682	N	0.000000	T	0.02970	0.0088	N	0.01631	-0.79	0.29515	N	0.853924	B	0.02656	0.0	B	0.04013	0.001	T	0.43653	-0.9378	10	0.02654	T	1	-12.9666	8.6097	0.33795	0.0:0.0973:0.0:0.9027	.	359	Q70CQ1-2	.	H	359	ENSP00000377797:R359H;ENSP00000362101:R359H;ENSP00000362100:R359H;ENSP00000362097:R359H;ENSP00000297229:R359H	ENSP00000297229:R359H	R	-	2	0	USP49	41881624	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.031000	0.64134	0.939000	0.37446	0.655000	0.94253	CGT		0.602	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
GPR116	221395	broad.mit.edu	37	6	46836637	46836637	+	Missense_Mutation	SNP	G	G	A	rs570716966		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836637G>A	ENST00000283296.7	-	12	1892	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	GPR116_ENST00000362015.4_Missense_Mutation_p.S535L|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000456426.2_Missense_Mutation_p.S393L|GPR116_ENST00000265417.7_Missense_Mutation_p.S535L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	535	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCCCTGGTCGAGGTCTTGAC	0.448																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				central_nervous_system(1)|skin(1)	2						c.(1603-1605)TCG>TTG		G-protein coupled receptor 116 precursor							135.0	135.0	135.0					6																	46836637		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836637G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1604C>T	6.37:g.46836637G>A	ENSP00000283296:p.Ser535Leu					GPR116_uc011dwj.1_Missense_Mutation_p.S90L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S393L|GPR116_uc003oyq.3_Missense_Mutation_p.S535L|GPR116_uc010jzi.1_Missense_Mutation_p.S207L	p.S535L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1893	-			535			Ig-like 3.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.1604C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087015	0.36855	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.19105	2.92;2.92;2.17;2.92	5.23	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.379952	0.21682	N	0.070707	T	0.05502	0.0145	N	0.24115	0.695	0.21386	N	0.999708	P;P;P;P	0.49961	0.734;0.726;0.93;0.726	B;B;B;B	0.41412	0.05;0.123;0.356;0.123	T	0.12400	-1.0549	10	0.72032	D	0.01	-0.0451	7.7615	0.28955	0.2643:0.0:0.7357:0.0	.	90;535;393;535	B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;GP116_HUMAN	L	535;535;535;393;535	ENSP00000283296:S535L;ENSP00000354563:S535L;ENSP00000412866:S393L;ENSP00000265417:S535L	ENSP00000265417:S535L	S	-	2	0	GPR116	46944596	0.008000	0.16893	0.182000	0.23118	0.986000	0.74619	1.656000	0.37355	0.554000	0.29061	0.591000	0.81541	TCG		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR116	221395	broad.mit.edu	37	6	46836810	46836810	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836810C>T	ENST00000283296.7	-	12	1719	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	GPR116_ENST00000362015.4_Silent_p.P477P|GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000456426.2_Silent_p.P335P|GPR116_ENST00000265417.7_Silent_p.P477P	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	477	Ig-like 3.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGGGTCCGGGGTTATTG	0.363																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				central_nervous_system(1)|skin(1)	2						c.(1429-1431)CCG>CCA		G-protein coupled receptor 116 precursor							56.0	57.0	57.0					6																	46836810		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46836810C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1431G>A	6.37:g.46836810C>T						GPR116_uc011dwj.1_Silent_p.P32P|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.P335P|GPR116_uc003oyq.3_Silent_p.P477P|GPR116_uc010jzi.1_Silent_p.P149P	p.P477P	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		12	1720	-			477			Ig-like 3.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1431G>A	CCDS4919.1																																																																																				0.363	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
TAB2	23118	broad.mit.edu	37	6	149699411	149699411	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:149699411A>G	ENST00000367456.1	+	4	937	c.360A>G	c.(358-360)gaA>gaG	p.E120E	TAB2_ENST00000538427.1_Silent_p.E120E|TAB2_ENST00000286332.5_Silent_p.E120E|TAB2_ENST00000392282.1_Silent_p.E120E|TAB2_ENST00000536230.1_Silent_p.E88E			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	120					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATAGTGAACTATTTCAGC	0.458																																						uc003qmj.2																			0					0						c.(358-360)GAA>GAG		mitogen-activated protein kinase kinase kinase 7							78.0	69.0	72.0					6																	149699411		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149699411A>G	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.360A>G	6.37:g.149699411A>G						TAB2_uc011eec.1_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.1_Silent_p.E120E|TAB2_uc003qmk.3_RNA	p.E120E	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	538	+			120					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.360A>G	CCDS5214.1																																																																																				0.458	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3		
MLLT4	4301	broad.mit.edu	37	6	168348980	168348980	+	Missense_Mutation	SNP	C	C	T	rs145954704	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:168348980C>T	ENST00000447894.2	+	28	3632	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M	MLLT4_ENST00000366806.2_Missense_Mutation_p.T1211M|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1194M|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1218M|MLLT4_ENST00000400822.3_Missense_Mutation_p.T1210M|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1211M|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1211M			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1211					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGAGCAGACGCCTCCGCCT	0.418			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3628-3630)ACG>ATG		myeloid/lymphoid or mixed-lineage leukemia		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	62.0	61.0	61.0		3632,3581	-1.1	0.0	6	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MLLT4	NM_001040000.2,NM_001207008.1	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	1211/1652,1194/1744	168348980	3,13003	2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168348980C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3632C>T	6.37:g.168348980C>T	ENSP00000404595:p.Thr1211Met					MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.1_Missense_Mutation_p.T1211M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	p.T1210M	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	28	3771	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1211					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3629C>T		.	.	.	.	.	.	.	.	.	.	C	11.53	1.666803	0.29604	4.54E-4	1.16E-4	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04603	3.8;3.7;3.8;3.79;3.59;3.7;3.7	5.52	-1.07	0.09968	.	0.260464	0.38837	N	0.001560	T	0.02455	0.0075	M	0.63428	1.95	0.44880	D	0.997899	P;P;P;B	0.48162	0.599;0.853;0.906;0.331	B;B;B;B	0.42361	0.143;0.366;0.385;0.068	T	0.47873	-0.9083	10	0.34782	T	0.22	-8.1705	10.4687	0.44624	0.0:0.3575:0.4815:0.1609	.	1211;1210;1211;1195	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	M	1211;1218;1211;1211;1194;1211;1210;1211	ENSP00000341118:T1211M;ENSP00000252692:T1218M;ENSP00000375956:T1211M;ENSP00000355771:T1211M;ENSP00000375960:T1194M;ENSP00000383623:T1210M;ENSP00000404595:T1211M	ENSP00000345834:T1211M	T	+	2	0	MLLT4	168091829	0.012000	0.17670	0.014000	0.15608	0.335000	0.28730	0.200000	0.17257	-0.589000	0.05874	-0.150000	0.13652	ACG		0.418	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
SDK1	221935	broad.mit.edu	37	7	4091337	4091337	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4091337G>A	ENST00000404826.2	+	19	2925	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	SDK1_ENST00000389531.3_Missense_Mutation_p.G929E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	929	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATTTCCACGGAGTCCACCAT	0.567																																						uc003smx.2																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(2785-2787)GGA>GAA		sidekick 1 precursor							142.0	127.0	132.0					7																	4091337		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4091337G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2786G>A	7.37:g.4091337G>A	ENSP00000385899:p.Gly929Glu					SDK1_uc010kso.2_Missense_Mutation_p.G205E	p.G929E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	2925	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	929			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2786G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	7.144	0.582422	0.13749	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53206	0.63;0.63	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.47948	0.1473	N	0.20401	0.57	0.24318	N	0.995051	B;D	0.67145	0.314;0.996	B;P	0.58660	0.121;0.843	T	0.43196	-0.9406	10	0.46703	T	0.11	.	12.9456	0.58371	0.0734:0.0:0.9266:0.0	.	929;929	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	E	929	ENSP00000385899:G929E;ENSP00000374182:G929E	ENSP00000374182:G929E	G	+	2	0	SDK1	4057863	0.967000	0.33354	0.108000	0.21378	0.514000	0.34195	3.629000	0.54266	2.648000	0.89879	0.650000	0.86243	GGA		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
PAPOLB	56903	broad.mit.edu	37	7	4900644	4900644	+	Silent	SNP	C	C	T	rs112213840	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4900644C>T	ENST00000404991.1	-	1	981	c.795G>A	c.(793-795)gcG>gcA	p.A265A	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	265					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGAGTTGACGCTACTGCAT	0.428																																						uc003snk.2																			0				ovary(1)	1						c.(796-798)GCG>GCA		poly(A) polymerase beta (testis specific)		C	,	2,4398	2.1+/-5.4	0,2,2198	112.0	115.0	114.0		,798	-2.0	1.0	7	dbSNP_132	114	0,8600		0,0,4300	no	intron,coding-synonymous	RADIL,PAPOLB	NM_018059.4,NM_020144.4	,	0,2,6498	TT,TC,CC		0.0,0.0455,0.0154	,	,266/638	4900644	2,12998	2200	4300	6500	SO:0001819	synonymous_variant	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4900644C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.795G>A	7.37:g.4900644C>T						RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.A266A	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	982	-		Ovarian(82;0.0175)	265					Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37	c.798G>A																																																																																					0.428	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
FBXL18	80028	broad.mit.edu	37	7	5521489	5521489	+	Silent	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5521489G>T	ENST00000382368.3	-	5	2197	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R	AC092171.4_ENST00000444210.2_lincRNA	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGACGTCCCGGATGACGTCG	0.642																																						uc003son.3																			0				central_nervous_system(2)|ovary(1)	3						c.(2074-2076)CGG>AGG		F-box and leucine-rich repeat protein 18							88.0	100.0	96.0					7																	5521489		2041	4181	6222	SO:0001819	synonymous_variant	80028							g.chr7:5521489G>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.2074C>A	7.37:g.5521489G>T							p.R692R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2168	-		Ovarian(82;0.0607)	Error:Variant_position_missing_in_Q96ME1_after_alignment					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.2074C>A	CCDS43546.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448375	0.26074	.	.	ENSG00000155034	ENST00000297035	.	.	.	4.83	2.64	0.31445	.	.	.	.	.	T	0.70413	0.3221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73646	-0.3917	5	0.87932	D	0	.	10.8803	0.46935	0.0:0.0:0.4208:0.5792	.	.	.	.	Q	251	.	ENSP00000297035:P251Q	P	-	2	0	FBXL18	5488015	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.992000	0.49417	1.130000	0.42092	0.511000	0.50034	CCG		0.642	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963	
FBXL18	80028	broad.mit.edu	37	7	5540355	5540355	+	Silent	SNP	G	G	A	rs367548523		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5540355G>A	ENST00000382368.3	-	3	1668	c.1545C>T	c.(1543-1545)cgC>cgT	p.R515R	FBXL18_ENST00000453700.3_Silent_p.R515R	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	515									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CACTCTGTGCGCGGCTGCAGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		12700	0.0		0.0	False		,,,				2504	0.001					uc003soo.2																			0				central_nervous_system(2)|ovary(1)	3						c.(1543-1545)CGC>CGT		F-box and leucine-rich repeat protein 18		G		0,4094		0,0,2047	10.0	14.0	13.0		1545	-3.0	1.0	7		13	1,8315		0,1,4157	no	coding-synonymous	FBXL18	NM_024963.4		0,1,6204	AA,AG,GG		0.012,0.0,0.0081		515/719	5540355	1,12409	2047	4158	6205	SO:0001819	synonymous_variant	80028							g.chr7:5540355G>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1545C>T	7.37:g.5540355G>A						FBXL18_uc003son.3_Silent_p.R515R	p.R515R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1639	-		Ovarian(82;0.0607)	515					Q9BR90|Q9BTC7|Q9HAK7	Silent	SNP	ENST00000382368.3	37	c.1545C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.163|6.163	0.398202|0.398202	0.11696|0.11696	0.0|0.0	1.2E-4|1.2E-4	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000297035	.|.	.|.	.|.	5.18|5.18	-2.97|-2.97	0.05530|0.05530	.|.	.|0.115488	.|0.64402	.|D	.|0.000007	T|T	0.56775|0.56775	0.2008|0.2008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56384|0.56384	-0.7988|-0.7988	4|6	.|0.87932	.|D	.|0	.|.	5.8875|5.8875	0.18890|0.18890	0.2724:0.228:0.434:0.0656|0.2724:0.228:0.434:0.0656	.|.	.|.	.|.	.|.	V|C	399|75	.|.	.|ENSP00000297035:R75C	A|R	-|-	2|1	0|0	FBXL18|FBXL18	5506881|5506881	0.991000|0.991000	0.36638|0.36638	0.968000|0.968000	0.41197|0.41197	0.791000|0.791000	0.44710|0.44710	0.338000|0.338000	0.19858|0.19858	-0.369000|-0.369000	0.08028|0.08028	-0.353000|-0.353000	0.07706|0.07706	GCG|CGC		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963	
MRPL32	64983	broad.mit.edu	37	7	42974713	42974713	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:42974713C>T	ENST00000223324.2	+	2	477	c.290C>T	c.(289-291)cCg>cTg	p.P97L	PSMA2_ENST00000442788.1_5'Flank|MRPL32_ENST00000496564.1_3'UTR|PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank|PSMA2_ENST00000445517.1_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	97					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAGAAATCCGCAGAAGCTT	0.408																																						uc003tia.2																			0					0						c.(289-291)CCG>CTG		mitochondrial ribosomal protein L32 precursor							81.0	77.0	79.0					7																	42974713		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42974713C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.290C>T	7.37:g.42974713C>T	ENSP00000223324:p.Pro97Leu					C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Missense_Mutation_p.P44L	p.P97L	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			2	337	+			97					Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.290C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085913	0.76642	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.33	5.33	0.75918	.	0.339892	0.34435	N	0.003966	D	0.84365	0.5456	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.87512	0.2440	9	0.87932	D	0	-8.3881	19.058	0.93074	0.0:1.0:0.0:0.0	.	97	Q9BYC8	RM32_HUMAN	L	97	.	ENSP00000223324:P97L	P	+	2	0	MRPL32	42941238	0.735000	0.28153	0.589000	0.28718	0.705000	0.40729	5.014000	0.64029	2.469000	0.83416	0.650000	0.86243	CCG		0.408	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903	
ZMIZ2	83637	broad.mit.edu	37	7	44806136	44806136	+	Silent	SNP	G	G	A	rs371215181		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:44806136G>A	ENST00000309315.4	+	18	2652	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZMIZ2_ENST00000265346.7_Silent_p.A817A|ZMIZ2_ENST00000433667.1_Silent_p.A811A|ZMIZ2_ENST00000441627.1_Silent_p.A843A|ZMIZ2_ENST00000413916.1_Silent_p.A785A|ZMIZ2_ENST00000463931.1_3'UTR	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	843	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCCCCCAGCGTCCCGGCAGT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15340	0.0		0.0	False		,,,				2504	0.0				NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2																			0				ovary(2)|large_intestine(2)|breast(1)	5						c.(2527-2529)GCG>GCA		zinc finger, MIZ-type containing 2 isoform 1		G	,	1,3773		0,1,1886	56.0	61.0	60.0		2529,2451	-3.5	0.1	7		60	0,8258		0,0,4129	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,6015	AA,AG,GG		0.0,0.0265,0.0083	,	843/921,817/895	44806136	1,12031	1887	4129	6016	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806136G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2529G>A	7.37:g.44806136G>A						ZMIZ2_uc003tlq.2_Silent_p.A785A|ZMIZ2_uc003tls.2_Silent_p.A817A|ZMIZ2_uc003tlt.2_Silent_p.A466A|ZMIZ2_uc010kyj.2_Silent_p.A365A|ZMIZ2_uc003tlu.2_Silent_p.A124A|ZMIZ2_uc010kyk.1_5'Flank	p.A843A	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			18	2652	+			843			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2529G>A	CCDS43576.1																																																																																				0.647	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
TNS3	64759	broad.mit.edu	37	7	47342939	47342939	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:47342939G>A	ENST00000398879.1	-	22	3432	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	TNS3_ENST00000311160.9_Silent_p.F1022F|TNS3_ENST00000355730.3_Silent_p.F782F			Q68CZ2	TENS3_HUMAN	tensin 3	1022					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCGGTGCCGAAGCCCAGGA	0.682																																						uc003tnv.2																			0				ovary(4)	4						c.(3064-3066)TTC>TTT		tensin 3							16.0	20.0	19.0					7																	47342939		1939	4121	6060	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47342939G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3066C>T	7.37:g.47342939G>A						TNS3_uc003tnw.2_Silent_p.F1022F	p.F1022F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			22	3433	-			1022					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.3066C>T	CCDS5506.2																																																																																				0.682	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
POM121L12	285877	broad.mit.edu	37	7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:53104043G>T	ENST00000408890.4	+	1	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	227								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647																																						uc003tpz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GCT>TCT		POM121 membrane glycoprotein-like 12							46.0	54.0	51.0					7																	53104043		1969	4133	6102	SO:0001583	missense	285877							g.chr7:53104043G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.679G>T	7.37:g.53104043G>T	ENSP00000386133:p.Ala227Ser						p.A227S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	695	+			227					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.679G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	6.018	0.371621	0.11409	.	.	ENSG00000221900	ENST00000408890	T	0.11930	2.73	2.01	-2.62	0.06152	.	.	.	.	.	T	0.05640	0.0148	N	0.05124	-0.11	0.09310	N	1	B	0.23540	0.087	B	0.23574	0.047	T	0.36065	-0.9763	9	0.56958	D	0.05	.	4.3436	0.11122	0.2858:0.3192:0.395:0.0	.	227	Q8N7R1	P1L12_HUMAN	S	227	ENSP00000386133:A227S	ENSP00000386133:A227S	A	+	1	0	POM121L12	53071537	0.000000	0.05858	0.002000	0.10522	0.459000	0.32528	-0.011000	0.12721	-0.741000	0.04797	0.561000	0.74099	GCT		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
ZNF107	51427	broad.mit.edu	37	7	64168851	64168851	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:64168851A>G	ENST00000395391.1	+	4	3544	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E	ZNF107_ENST00000344930.3_Silent_p.E723E|ZNF107_ENST00000423627.1_Silent_p.E723E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAAGAATGTGGCA	0.348																																						uc003ttd.2																			0				ovary(1)	1						c.(2167-2169)GAA>GAG		zinc finger protein 107							28.0	30.0	29.0					7																	64168851		2201	4296	6497	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168851A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2169A>G	7.37:g.64168851A>G						ZNF107_uc003tte.2_Silent_p.E723E	p.E723E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2955	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	723			C2H2-type 24.			Silent	SNP	ENST00000395391.1	37	c.2169A>G	CCDS5527.1																																																																																				0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
CALN1	83698	broad.mit.edu	37	7	71252795	71252795	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:71252795C>T	ENST00000329008.5	-	6	923	c.625G>A	c.(625-627)Gca>Aca	p.A209T	CALN1_ENST00000405452.2_Missense_Mutation_p.A209T|CALN1_ENST00000395275.2_Missense_Mutation_p.A251T|CALN1_ENST00000395276.2_Missense_Mutation_p.A209T|CALN1_ENST00000412588.1_Missense_Mutation_p.A251T|CALN1_ENST00000431984.1_Missense_Mutation_p.A209T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTTGGCTGCAATCAGCATG	0.587																																						uc003twa.3																			0				skin(1)	1						c.(625-627)GCA>ACA		calneuron 1 isoform 2							113.0	88.0	96.0					7																	71252795		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71252795C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.625G>A	7.37:g.71252795C>T	ENSP00000332498:p.Ala209Thr					CALN1_uc003twb.3_Missense_Mutation_p.A251T|CALN1_uc003twc.3_Missense_Mutation_p.A209T	p.A209T	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			6	1152	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	209			Helical; Anchor for type IV membrane protein; (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.625G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446837	0.84101	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86976	0.2101	10	0.87932	D	0	-44.8612	17.2647	0.87083	0.0:1.0:0.0:0.0	.	209;209	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	209;251;209;209;251;209	ENSP00000332498:A209T;ENSP00000378690:A251T;ENSP00000378691:A209T;ENSP00000410704:A209T;ENSP00000391882:A251T;ENSP00000384354:A209T	ENSP00000332498:A209T	A	-	1	0	CALN1	70890731	1.000000	0.71417	0.993000	0.49108	0.471000	0.32888	7.724000	0.84798	2.303000	0.77524	0.462000	0.41574	GCA		0.587	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
RHBDD2	57414	broad.mit.edu	37	7	75511205	75511205	+	Silent	SNP	C	C	T	rs200252846		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:75511205C>T	ENST00000006777.6	+	2	372	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR|RHBDD2_ENST00000428119.1_5'Flank	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	79						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TGCTCTGCGGCGCTATCATCA	0.567																																						uc003udw.1																			0					0						c.(235-237)GGC>GGT		rhomboid domain containing 2 isoform a		C	,	1,4093		0,1,2046	107.0	114.0	111.0		237,	-5.9	0.1	7		111	0,8416		0,0,4208	no	coding-synonymous,utr-5	RHBDD2	NM_001040456.1,NM_001040457.1	,	0,1,6254	TT,TC,CC		0.0,0.0244,0.0080	,	79/365,	75511205	1,12509	2047	4208	6255	SO:0001819	synonymous_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75511205C>T	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.237C>T	7.37:g.75511205C>T						RHBDD2_uc003udv.1_5'UTR	p.G79G	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN			2	321	+			79			Helical; (Potential).		Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	ENST00000006777.6	37	c.237C>T	CCDS43602.1																																																																																				0.567	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	
ZAN	7455	broad.mit.edu	37	7	100350423	100350423	+	RNA	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:100350423C>T	ENST00000348028.3	+	0	2860				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAACTCACCATCCC	0.517																																						uc003uwj.2																			0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2695-2697)CTC>TTC		zonadhesin isoform 3							298.0	356.0	338.0					7																	100350423		1869	4100	5969			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350423C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350423C>T						ZAN_uc003uwk.2_Missense_Mutation_p.L899F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.L899F	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2860	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		899			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2695C>T		.	.	.	.	.	.	.	.	.	.	C	13.37	2.216234	0.39201	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.73575	-0.76;-0.76;-0.76	3.53	-2.55	0.06288	.	1.190190	0.06552	N	0.745264	T	0.61274	0.2334	N	0.14661	0.345	0.09310	N	0.999998	P;D	0.56287	0.927;0.975	P;P	0.53722	0.641;0.733	T	0.50882	-0.8775	10	0.34782	T	0.22	.	0.8106	0.01092	0.1676:0.3601:0.1535:0.3188	.	899;899	F5H0T8;Q9Y493	.;ZAN_HUMAN	F	899	ENSP00000445943:L899F;ENSP00000445091:L899F;ENSP00000444427:L899F	ENSP00000423579:L899F	L	+	1	0	ZAN	100188359	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-3.583000	0.00423	-0.738000	0.04817	0.430000	0.28490	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
SLC26A5	375611	broad.mit.edu	37	7	103014906	103014906	+	Silent	SNP	C	C	A	rs138320783	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103014906C>A	ENST00000306312.3	-	20	2436	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Silent_p.S727S|SLC26A5_ENST00000354356.4_Silent_p.S158S|SLC26A5_ENST00000393730.1_Silent_p.S693S|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393729.1_Silent_p.S688S|SLC26A5_ENST00000393723.1_Silent_p.S695S|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000432958.2_Silent_p.S693S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	725					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGGGGGAGCCGAGGCTTCCT	0.532																																						uc003vbz.2																			0				ovary(1)	1						c.(2173-2175)TCG>TCT		prestin isoform a							73.0	65.0	68.0					7																	103014906		2203	4300	6503	SO:0001819	synonymous_variant	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014906C>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2175G>T	7.37:g.103014906C>A						SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.S693S|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.S725S	NM_198999	NP_945350	P58743	S26A5_HUMAN			20	2411	-			725			Cytoplasmic (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	c.2175G>T	CCDS5733.1																																																																																				0.532	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
RELN	5649	broad.mit.edu	37	7	103162532	103162532	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103162532G>A	ENST00000428762.1	-	48	7764	c.7605C>T	c.(7603-7605)aaC>aaT	p.N2535N	RELN_ENST00000343529.5_Silent_p.N2535N|RELN_ENST00000424685.2_Silent_p.N2535N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2535					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTCCCTCCGTTCACAGTCA	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7603-7605)AAC>AAT		reelin isoform a							143.0	124.0	131.0					7																	103162532		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103162532G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7605C>T	7.37:g.103162532G>A						RELN_uc010liz.2_Silent_p.N2535N	p.N2535N	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	48	7765	-			2535					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.7605C>T	CCDS47680.1																																																																																				0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952|rs200782612		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532																																						uc003vjf.2																			0				ovary(4)|central_nervous_system(1)	5						c.(3796-3798)CGC>CAC		cortactin binding protein 2							69.0	72.0	71.0					7																	117375046		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117375046C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3797G>A	7.37:g.117375046C>T	ENSP00000160373:p.Arg1266His						p.R1266H	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3889	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1266					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3797G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608420	0.87258	.	.	ENSG00000077063	ENST00000160373	T	0.77358	-1.09	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.88751	0.3250	10	0.87932	D	0	-4.1387	10.1297	0.42672	0.1363:0.7925:0.0:0.0712	.	1266	Q8WZ74	CTTB2_HUMAN	H	1266	ENSP00000160373:R1266H	ENSP00000160373:R1266H	R	-	2	0	CTTNBP2	117162282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.438000	0.66550	1.390000	0.46547	0.655000	0.94253	CGC		0.532	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
AASS	10157	broad.mit.edu	37	7	121773679	121773679	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:121773679G>A	ENST00000393376.1	-	1	197	c.102C>T	c.(100-102)aaC>aaT	p.N34N	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.N34N			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	34	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCTCCCAGGCGTTCACATCCT	0.582																																						uc003vka.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(100-102)AAC>AAT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						115.0	104.0	108.0					7																	121773679		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121773679G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.102C>T	7.37:g.121773679G>A						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.N34N|AASS_uc011knw.1_Intron	p.N34N	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			1	198	-			34			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.102C>T	CCDS5783.1																																																																																				0.582	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
NRF1	4899	broad.mit.edu	37	7	129357145	129357145	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:129357145G>A	ENST00000393232.1	+	9	1269	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	NRF1_ENST00000311967.2_Silent_p.S384S|NRF1_ENST00000393230.2_Silent_p.S384S|NRF1_ENST00000353868.4_Silent_p.S318S|NRF1_ENST00000393231.3_Silent_p.S384S|NRF1_ENST00000223190.4_Silent_p.S384S|NRF1_ENST00000539636.1_Silent_p.S223S	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	384	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGGTGGCATCGTTGGCAGAGG	0.572																																						uc003voz.2																			0				ovary(1)	1						c.(1150-1152)TCG>TCA		nuclear respiratory factor 1							74.0	67.0	70.0					7																	129357145		2203	4300	6503	SO:0001819	synonymous_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129357145G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1152G>A	7.37:g.129357145G>A						NRF1_uc003vpa.2_Silent_p.S384S|NRF1_uc011kpa.1_Silent_p.S223S|NRF1_uc003vpb.2_Silent_p.S384S	p.S384S	NM_005011	NP_005002	Q16656	NRF1_HUMAN			9	1269	+			384			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Silent	SNP	ENST00000393232.1	37	c.1152G>A	CCDS5813.2																																																																																				0.572	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vpx.2																			0				ovary(1)	1						c.(283-285)TCG>TCA		carboxypeptidase A1 precursor							71.0	60.0	64.0					7																	130021608		2203	4300	6503	SO:0001819	synonymous_variant	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130021608G>A		CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.285G>A	7.37:g.130021608G>A			OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1576	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	p.S95S	NM_001868	NP_001859	P15085	CBPA1_HUMAN			3	357	+	Melanoma(18;0.0435)		95					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	c.285G>A	CCDS5820.1																																																																																				0.612	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868	
HIPK2	28996	broad.mit.edu	37	7	139259877	139259877	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:139259877G>C	ENST00000406875.3	-	14	3217	c.3123C>G	c.(3121-3123)agC>agG	p.S1041R	HIPK2_ENST00000428878.2_Missense_Mutation_p.S1014R	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1041	Autoinhibitory domain (AID).|Interaction with AXIN1. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCTTACCTGGCTGAGATTGA	0.672																																						uc003vvf.3																			0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(3121-3123)AGC>AGG		homeodomain interacting protein kinase 2 isoform							13.0	18.0	16.0					7																	139259877		2070	4211	6281	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139259877G>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3123C>G	7.37:g.139259877G>C	ENSP00000385571:p.Ser1041Arg					HIPK2_uc003vvd.3_Missense_Mutation_p.S1014R	p.S1041R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			14	3297	-	Melanoma(164;0.205)		1041			Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.3123C>G		.	.	.	.	.	.	.	.	.	.	G	12.17	1.857157	0.32791	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.60672	0.17;0.2	4.72	1.98	0.26296	.	.	.	.	.	T	0.71651	0.3365	.	.	.	0.45690	D	0.998605	P;D	0.64830	0.94;0.994	P;D	0.71870	0.462;0.975	T	0.70722	-0.4794	8	0.87932	D	0	.	8.8706	0.35314	0.3697:0.0:0.6303:0.0	.	1041;1014	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	R	1041;1014	ENSP00000385571:S1041R;ENSP00000413724:S1014R	ENSP00000385571:S1041R	S	-	3	2	HIPK2	138910417	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.057000	0.49931	0.242000	0.21303	-0.374000	0.07098	AGC		0.672	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740	
ZNF425	155054	broad.mit.edu	37	7	148815402	148815402	+	Silent	SNP	C	C	T	rs560790723		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:148815402C>T	ENST00000378061.2	-	2	189	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S19S(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCTTGTTCCGAAAAATATA	0.393																																						uc003wfj.2																			1	Substitution - coding silent(1)		large_intestine(1)	breast(2)|ovary(1)	3						c.(55-57)TCG>TCA		zinc finger protein 425							216.0	200.0	205.0					7																	148815402		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148815402C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.57G>A	7.37:g.148815402C>T							p.S19S	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		2	130	-	Melanoma(164;0.15)		19			KRAB.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.57G>A	CCDS34773.1																																																																																				0.393	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
SLC4A2	6522	broad.mit.edu	37	7	150771186	150771186	+	Missense_Mutation	SNP	G	G	A	rs573998641		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:150771186G>A	ENST00000485713.1	+	17	3636	c.2596G>A	c.(2596-2598)Ggt>Agt	p.G866S	FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.G852S|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G866S|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G857S|SLC4A2_ENST00000310317.5_Missense_Mutation_p.G784S	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	866	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGACGGCGGTGAGAACAT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		13238	0.0		0.0	False		,,,				2504	0.001					uc003wit.3																			0					0						c.(2596-2598)GGT>AGT		solute carrier family 4, anion exchanger, member							36.0	43.0	41.0					7																	150771186		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771186G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2596G>A	7.37:g.150771186G>A	ENSP00000419412:p.Gly866Ser					SLC4A2_uc011kve.1_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.3_Missense_Mutation_p.G852S|SLC4A2_uc003wiv.3_Missense_Mutation_p.G60S	p.G866S	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2852	+			866			Membrane (anion exchange).|Extracellular (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2596G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	3.381	-0.126462	0.06795	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.54	-1.13	0.09775	Bicarbonate transporter, C-terminal (1);	1.028700	0.07656	N	0.932806	T	0.42765	0.1217	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.17667	0.014;0.018;0.023	B;B;B	0.20384	0.008;0.017;0.029	T	0.37641	-0.9697	10	0.06365	T	0.9	.	10.4035	0.44243	0.3936:0.0:0.6064:0.0	.	857;852;866	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	S	866;866;784;857;852	ENSP00000419412:G866S;ENSP00000405600:G866S;ENSP00000311402:G784S;ENSP00000376571:G857S;ENSP00000419164:G852S	ENSP00000311402:G784S	G	+	1	0	SLC4A2	150402119	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.180000	0.09754	-0.576000	0.05974	-0.367000	0.07326	GGT		0.677	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
KMT2C	58508	broad.mit.edu	37	7	151878185	151878185	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:151878185C>T	ENST00000262189.6	-	36	6978	c.6760G>A	c.(6760-6762)Gca>Aca	p.A2254T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2254T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2254	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A2254T(2)									CGGTTTTGTGCTGCTTGCAGG	0.527																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		kidney(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6760-6762)GCA>ACA		myeloid/lymphoid or mixed-lineage leukemia 3							101.0	105.0	103.0					7																	151878185		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878185C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6760G>A	7.37:g.151878185C>T	ENSP00000262189:p.Ala2254Thr					MLL3_uc003wkz.2_Missense_Mutation_p.A1315T	p.A2254T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6979	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2254			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6760G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161376	0.21538	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83250	-1.7;-1.7	5.37	0.24	0.15489	.	0.773311	0.10844	N	0.627913	T	0.69513	0.3119	L	0.44542	1.39	0.41319	D	0.987161	B;B	0.14438	0.01;0.007	B;B	0.12837	0.004;0.008	T	0.55127	-0.8189	10	0.13853	T	0.58	.	1.6397	0.02750	0.2671:0.3795:0.0909:0.2625	.	2254;1315	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2254	ENSP00000262189:A2254T;ENSP00000347325:A2254T	ENSP00000262189:A2254T	A	-	1	0	MLL3	151509118	0.917000	0.31117	0.970000	0.41538	0.980000	0.70556	0.431000	0.21444	0.048000	0.15891	-0.136000	0.14681	GCA		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
HTR5A	3361	broad.mit.edu	37	7	154863298	154863298	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:154863298G>A	ENST00000287907.2	+	1	1265	c.689G>A	c.(688-690)cGc>cAc	p.R230H	HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank|HTR5A-AS1_ENST00000543018.1_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	230					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCAAGTTCCGCGTGGGCTCC	0.542																																						uc003wlu.1																			0				ovary(2)|large_intestine(1)	3						c.(688-690)CGC>CAC		5-hydroxytryptamine receptor 5A							78.0	74.0	75.0					7																	154863298		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863298G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.689G>A	7.37:g.154863298G>A	ENSP00000287907:p.Arg230His					uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	p.R230H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	753	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	230			Cytoplasmic (By similarity).		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.689G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215800	0.79352	.	.	ENSG00000157219	ENST00000287907	T	0.35048	1.33	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	L	0.41906	1.305	0.80722	D	1	P	0.36535	0.557	B	0.35770	0.21	T	0.15636	-1.0430	10	0.44086	T	0.13	.	17.9833	0.89148	0.0:0.0:1.0:0.0	.	230	P47898	5HT5A_HUMAN	H	230	ENSP00000287907:R230H	ENSP00000287907:R230H	R	+	2	0	HTR5A	154494231	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.173000	0.94815	2.485000	0.83878	0.650000	0.86243	CGC		0.542	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
PTPRN2	5799	broad.mit.edu	37	7	157370776	157370776	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:157370776G>A	ENST00000389418.4	-	18	2562	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	PTPRN2_ENST00000409483.1_Silent_p.N813N|PTPRN2_ENST00000389416.4_Silent_p.N834N|PTPRN2_ENST00000389413.3_Silent_p.N822N|PTPRN2_ENST00000404321.2_Silent_p.N874N	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	851	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGGACGCCGTTCTCCGCGA	0.622																																						uc003wno.2																			0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2551-2553)AAC>AAT		protein tyrosine phosphatase, receptor type, N							86.0	71.0	76.0					7																	157370776		2203	4300	6503	SO:0001819	synonymous_variant	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157370776G>A	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2553C>T	7.37:g.157370776G>A						PTPRN2_uc003wnp.2_Silent_p.N834N|PTPRN2_uc003wnq.2_Silent_p.N822N|PTPRN2_uc003wnr.2_Silent_p.N813N|PTPRN2_uc011kwa.1_Silent_p.N874N	p.N851N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	18	2674	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	851			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	c.2553C>T	CCDS5947.1																																																																																				0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
VIPR2	7434	broad.mit.edu	37	7	158896531	158896531	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:158896531T>C	ENST00000262178.2	-	4	459	c.274A>G	c.(274-276)Aac>Gac	p.N92D	VIPR2_ENST00000402066.1_Missense_Mutation_p.N233D	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	92					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTACAGTTTTTGCTTATG	0.512																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2																			0				lung(1)|central_nervous_system(1)	2						c.(274-276)AAC>GAC		vasoactive intestinal peptide receptor 2							208.0	172.0	184.0					7																	158896531		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158896531T>C	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.274A>G	7.37:g.158896531T>C	ENSP00000262178:p.Asn92Asp					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.N92D	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	4	460	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	92			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.274A>G	CCDS5950.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.24|17.24	3.339525|3.339525	0.60963|0.60963	.|.	.|.	ENSG00000106018|ENSG00000106018	ENST00000418475|ENST00000262178;ENST00000402066	.|T;T	.|0.66099	.|-0.19;-0.19	5.0|5.0	5.0|5.0	0.66597|0.66597	.|GPCR, family 2, extracellular hormone receptor domain (3);	.|0.000000	.|0.56097	.|D	.|0.000037	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.70108|0.70108	2.13|2.13	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.67725	.|0.953	T|T	0.75825|0.75825	-0.3181|-0.3181	5|9	.|.	.|.	.|.	.|.	11.3876|11.3876	0.49796|0.49796	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92	.|P41587	.|VIPR2_HUMAN	R|D	87|92;233	.|ENSP00000262178:N92D;ENSP00000384497:N233D	.|.	K|N	-|-	2|1	0|0	VIPR2|VIPR2	158589292|158589292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.462000|0.462000	0.32619|0.32619	4.545000|4.545000	0.60698|0.60698	1.990000|1.990000	0.58119|0.58119	0.460000|0.460000	0.39030|0.39030	AAA|AAC		0.512	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
KIAA1429	25962	broad.mit.edu	37	8	95521969	95521969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:95521969G>A	ENST00000297591.5	-	15	3901	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1276C|KIAA1429_ENST00000523405.1_5'Flank	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1276					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTGTTGGCGAATAACACTG	0.373																																						uc003ygo.1																			0				ovary(1)|skin(1)	2						c.(3826-3828)CGC>TGC		hypothetical protein LOC25962 isoform 1							94.0	93.0	93.0					8																	95521969		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95521969G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3826C>T	8.37:g.95521969G>A	ENSP00000297591:p.Arg1276Cys					KIAA1429_uc010maz.1_RNA	p.R1276C	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		15	3839	-	Breast(36;3.29e-05)		1276					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3826C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399161	0.42512	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.74106	-0.76;-0.81	5.49	5.49	0.81192	.	0.154187	0.64402	D	0.000018	T	0.56077	0.1961	N	0.08118	0	0.52501	D	0.999952	D	0.54772	0.968	B	0.36719	0.231	T	0.67669	-0.5611	10	0.66056	D	0.02	-2.1753	19.3585	0.94424	0.0:0.0:1.0:0.0	.	1276	Q69YN4	VIR_HUMAN	C	1276	ENSP00000297591:R1276C;ENSP00000395600:R1276C	ENSP00000297591:R1276C	R	-	1	0	KIAA1429	95591145	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.030000	0.88816	2.579000	0.87056	0.462000	0.41574	CGC		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
TG	7038	broad.mit.edu	37	8	133880437	133880437	+	Missense_Mutation	SNP	G	G	A	rs371271403		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:133880437G>A	ENST00000220616.4	+	2	185	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	TG_ENST00000377869.1_Missense_Mutation_p.V49M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	49	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGACTACGTGCCCCAGTG	0.532																																						uc003ytw.2																			0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(145-147)GTG>ATG		thyroglobulin precursor		G	MET/VAL	0,4406		0,0,2203	114.0	96.0	102.0		145	1.0	0.0	8		102	2,8598	2.2+/-6.3	0,2,4298	no	missense	TG	NM_003235.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	49/2769	133880437	2,13004	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880437G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.145G>A	8.37:g.133880437G>A	ENSP00000220616:p.Val49Met						p.V49M	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	186	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	49			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.145G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763367	0.49574	0.0	2.33E-4	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66460	-0.21;-0.21	5.38	1.04	0.20106	Thyroglobulin type-1 (6);	0.353827	0.23813	N	0.044307	T	0.80226	0.4584	M	0.84683	2.71	0.09310	N	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70978	-0.4725	10	0.62326	D	0.03	.	10.6584	0.45688	0.3109:0.0:0.6891:0.0	.	49	P01266	THYG_HUMAN	M	49	ENSP00000367100:V49M;ENSP00000220616:V49M	ENSP00000220616:V49M	V	+	1	0	TG	133949619	0.088000	0.21588	0.004000	0.12327	0.788000	0.44548	0.872000	0.28037	0.268000	0.21939	0.462000	0.41574	GTG		0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZNF623	9831	broad.mit.edu	37	8	144732159	144732159	+	Silent	SNP	G	G	A	rs201671001		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:144732159G>A	ENST00000501748.2	+	1	206	c.117G>A	c.(115-117)acG>acA	p.T39T	ZNF623_ENST00000458270.2_De_novo_Start_InFrame|ZNF623_ENST00000526926.1_De_novo_Start_InFrame	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T39T(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19893	0.0		0.0	False		,,,				2504	0.0					uc003yzd.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(115-117)ACG>ACA		zinc finger protein 623 isoform 1							85.0	80.0	82.0					8																	144732159		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732159G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.117G>A	8.37:g.144732159G>A						ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	p.T39T	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	206	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		39					A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.117G>A	CCDS34957.1																																																																																				0.522	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
KIAA2026	158358	broad.mit.edu	37	9	5988438	5988438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:5988438C>T	ENST00000399933.3	-	2	700	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R234Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	234								p.R234Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCCAAACTTCGCGGTGTTGA	0.423																																						uc003zjq.3																			1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(700-702)CGA>CAA		hypothetical protein LOC158358							120.0	116.0	117.0					9																	5988438		1915	4110	6025	SO:0001583	missense	158358							g.chr9:5988438C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.701G>A	9.37:g.5988438C>T	ENSP00000382815:p.Arg234Gln						p.R234Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	917	-		Acute lymphoblastic leukemia(23;0.158)	234					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.014731	0.93404	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.64	4.64	0.57946	.	0.000000	0.43579	U	0.000557	T	0.70020	0.3176	L	0.44542	1.39	0.36502	D	0.869074	D	0.89917	1.0	D	0.77004	0.989	T	0.77056	-0.2729	9	0.62326	D	0.03	.	17.9175	0.88955	0.0:1.0:0.0:0.0	.	234	Q5HYC2	K2026_HUMAN	Q	234	.	ENSP00000370870:R234Q	R	-	2	0	KIAA2026	5978438	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.524000	0.73791	2.304000	0.77564	0.479000	0.44913	CGA		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
ACER2	340485	broad.mit.edu	37	9	19423911	19423911	+	Missense_Mutation	SNP	C	C	T	rs145427232		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:19423911C>T	ENST00000340967.2	+	2	186	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	ACER2_ENST00000380376.1_Missense_Mutation_p.R5C	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	54					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to drug (GO:0035690)|ceramide metabolic process (GO:0006672)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of protein glycosylation in Golgi (GO:0090285)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.R54C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GTGCTTGTTTCGTCAGTATGC	0.398																																						uc003zny.1																			1	Substitution - Missense(1)	p.R54C(1)	skin(1)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(160-162)CGT>TGT		alkaline ceramidase 2							253.0	217.0	229.0					9																	19423911		2203	4300	6503	SO:0001583	missense	340485				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	g.chr9:19423911C>T	AK123581	CCDS34992.1	9p21.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000177076	ENSG00000177076	3.5.1.23	"""Alkaline ceramidase"""	23675	protein-coding gene	gene with protein product		613492	"""N-acylsphingosine amidohydrolase 3-like"""	ASAH3L		18945876	Standard	XM_005251447		Approved	FLJ41587	uc003zny.1	Q5QJU3	OTTHUMG00000019644	ENST00000340967.2:c.160C>T	9.37:g.19423911C>T	ENSP00000342609:p.Arg54Cys					ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.R5C	p.R54C	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN			2	318	+			54			Cytoplasmic (Potential).		A2A3R8|Q569G5|Q5VZR7|Q71RD2	Missense_Mutation	SNP	ENST00000340967.2	37	c.160C>T	CCDS34992.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749895	0.89753	.	.	ENSG00000177076	ENST00000380376;ENST00000340967	T;T	0.46451	0.94;0.87	5.53	5.53	0.82687	.	0.054048	0.64402	D	0.000001	T	0.62563	0.2438	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.63088	-0.6715	9	.	.	.	.	13.7853	0.63105	0.0:0.9242:0.0:0.0758	.	54	Q5QJU3	ACER2_HUMAN	C	5;54	ENSP00000369735:R5C;ENSP00000342609:R54C	.	R	+	1	0	ACER2	19413911	1.000000	0.71417	0.971000	0.41717	0.928000	0.56348	3.901000	0.56303	2.619000	0.88677	0.579000	0.79373	CGT		0.398	ACER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051864.1	XM_294540	
CCIN	881	broad.mit.edu	37	9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:36169599G>A	ENST00000335119.2	+	1	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	34	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502																																						uc003zzb.3																			0				ovary(1)|skin(1)	2						c.(100-102)GTG>ATG		calicin							164.0	154.0	157.0					9																	36169599		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169599G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.100G>A	9.37:g.36169599G>A	ENSP00000334996:p.Val34Met						p.V34M	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	211	+			34			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.100G>A	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977645	0.53720	.	.	ENSG00000185972	ENST00000335119	T	0.77750	-1.12	5.69	5.69	0.88448	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.50627	D	0.000116	D	0.90508	0.7026	M	0.92367	3.3	0.36717	D	0.880964	D	0.67145	0.996	D	0.81914	0.995	D	0.94029	0.7299	10	0.87932	D	0	.	15.3016	0.73955	0.0:0.0:1.0:0.0	.	34	Q13939	CALI_HUMAN	M	34	ENSP00000334996:V34M	ENSP00000334996:V34M	V	+	1	0	CCIN	36159599	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.496000	0.66918	2.690000	0.91761	0.561000	0.74099	GTG		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
CCDC180	100499483	broad.mit.edu	37	9	100126341	100126341	+	Missense_Mutation	SNP	C	C	T	rs202030409		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:100126341C>T	ENST00000357054.1	+	41	4813	c.3878C>T	c.(3877-3879)cCg>cTg	p.P1293L	CCDC180_ENST00000395220.1_3'UTR|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.P1348L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.P1348L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1293						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGCTTCACACCGCACCCCAAG	0.592																																						uc011lut.1																			0				ovary(4)|large_intestine(2)|skin(1)	7						c.(4459-4461)CCG>CTG		hypothetical protein LOC57653		C	LEU/PRO	0,4406		0,0,2203	88.0	74.0	79.0		4043	2.9	0.3	9		79	2,8598	2.2+/-6.3	0,2,4298	no	missense	C9orf174	NM_020893.2	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1348/1702	100126341	2,13004	2203	4300	6503	SO:0001583	missense	57653							g.chr9:100126341C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3878C>T	9.37:g.100126341C>T	ENSP00000349562:p.Pro1293Leu					KIAA1529_uc004axe.1_Missense_Mutation_p.P1293L|KIAA1529_uc004axg.1_Missense_Mutation_p.P1348L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Intron|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	p.P1487L	NM_020893	NP_065944					41	5233	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4460C>T		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755207	0.31046	0.0	2.33E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08008	3.14;3.18;3.18	4.72	2.87	0.33458	.	0.488362	0.17894	N	0.158431	T	0.02848	0.0085	N	0.03608	-0.345	0.20196	N	0.99993	B;B	0.18166	0.005;0.026	B;B	0.01281	0.0;0.0	T	0.45804	-0.9236	10	0.11485	T	0.65	-14.4939	5.801	0.18414	0.1037:0.2031:0.6932:0.0	.	1487;1293	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	L	1293;1348;1348	ENSP00000349562:P1293L;ENSP00000364348:P1348L;ENSP00000434727:P1348L	ENSP00000349562:P1293L	P	+	2	0	C9orf174	99166162	0.026000	0.19158	0.277000	0.24703	0.010000	0.07245	1.286000	0.33273	1.310000	0.45006	-0.133000	0.14855	CCG		0.592	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
SVEP1	79987	broad.mit.edu	37	9	113228166	113228166	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:113228166C>T	ENST00000401783.2	-	18	3637	c.3301G>A	c.(3301-3303)Gtg>Atg	p.V1101M	SVEP1_ENST00000302728.8_Missense_Mutation_p.V1101M|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.V1078M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1101					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATGTTCACGGCTCCTCTT	0.438																																						uc010mtz.2																			0				ovary(7)	7						c.(3301-3303)GTG>ATG		polydom							63.0	56.0	58.0					9																	113228166		1861	4088	5949	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113228166C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3301G>A	9.37:g.113228166C>T	ENSP00000384917:p.Val1101Met					SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	p.V1101M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			18	3638	-			1101					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3301G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041385	0.75732	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.15834	2.39;2.39;2.39	5.72	4.83	0.62350	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.059316	0.64402	D	0.000002	T	0.36220	0.0959	M	0.66939	2.045	0.37630	D	0.92162	P;D	0.64830	0.906;0.994	B;P	0.60415	0.286;0.874	T	0.36866	-0.9730	10	0.48119	T	0.1	.	14.8249	0.70104	0.0:0.9311:0.0:0.0689	.	1101;1101	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	M	1101;1078;1101	ENSP00000384917:V1101M;ENSP00000363593:V1078M;ENSP00000304118:V1101M	ENSP00000304118:V1101M	V	-	1	0	SVEP1	112267987	0.708000	0.27876	0.791000	0.31998	0.952000	0.60782	1.387000	0.34430	1.411000	0.46957	0.655000	0.94253	GTG		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
COL27A1	85301	broad.mit.edu	37	9	116994128	116994128	+	Silent	SNP	C	C	T	rs144760825		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:116994128C>T	ENST00000356083.3	+	16	2938	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	849	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGGGAGCCCGGACTGAAAG	0.577																																						uc011lxl.1																			0				ovary(3)|skin(1)	4						c.(2545-2547)CCC>CCT		collagen, type XXVII, alpha 1 precursor		C		0,4406		0,0,2203	270.0	240.0	250.0		2547	2.5	1.0	9	dbSNP_134	250	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	COL27A1	NM_032888.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		849/1861	116994128	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116994128C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2547C>T	9.37:g.116994128C>T						COL27A1_uc004bii.2_RNA	p.P849P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			16	2547	+			849			Pro-rich.|Triple-helical region.|Collagen-like 4.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.2547C>T	CCDS6802.1																																																																																				0.577	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
DAB2IP	153090	broad.mit.edu	37	9	124528842	124528842	+	Silent	SNP	G	G	A	rs372045771		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:124528842G>A	ENST00000408936.3	+	9	1712	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	DAB2IP_ENST00000309989.1_Silent_p.P386P|DAB2IP_ENST00000259371.2_Silent_p.P482P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	510	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGGCCGCCCGGACATCAGTG	0.617																																						uc004bln.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1444-1446)CCG>CCA		disabled homolog 2 interacting protein isoform		G	,	3,4403	6.2+/-15.9	0,3,2200	84.0	72.0	76.0		1446,1158	-9.2	0.1	9		76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	482/1133,386/1066	124528842	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124528842G>A	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1530G>A	9.37:g.124528842G>A						DAB2IP_uc004blo.2_Silent_p.P386P|DAB2IP_uc004blp.2_5'Flank	p.P482P	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			9	1515	+			510			Ras-GAP.		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.1446G>A																																																																																					0.617	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
RC3H2	54542	broad.mit.edu	37	9	125617558	125617558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125617558G>A	ENST00000373670.1	-	14	3320	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	RC3H2_ENST00000357244.2_Missense_Mutation_p.A907V|RC3H2_ENST00000423239.2_Missense_Mutation_p.A907V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	907					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGGAAATCGCACCCCATTT	0.443																																						uc010mwc.1																			0				ovary(2)|lung(2)	4						c.(2719-2721)GCG>GTG		ring finger and CCCH-type zinc finger domains 2							138.0	132.0	134.0					9																	125617558		1921	4127	6048	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125617558G>A	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2720C>T	9.37:g.125617558G>A	ENSP00000362774:p.Ala907Val					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.A907V|RC3H2_uc004bne.3_Missense_Mutation_p.A907V	p.A907V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			15	2961	-			907					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.2720C>T	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161078	0.78226	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000398671	T;T;T	0.59638	0.25;0.25;0.3	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.49778	1.585	0.80722	D	1	P;D	0.54772	0.947;0.968	B;B	0.40741	0.183;0.339	T	0.58132	-0.7690	10	0.87932	D	0	-25.4718	12.6947	0.56997	0.0:0.0:0.8351:0.1649	.	907;907	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	V	907;907;778;907;42	ENSP00000362774:A907V;ENSP00000349783:A907V;ENSP00000411767:A907V	ENSP00000349783:A907V	A	-	2	0	RC3H2	124657379	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.959000	0.93110	1.250000	0.43966	0.655000	0.94253	GCG		0.443	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
STRBP	55342	broad.mit.edu	37	9	125922701	125922701	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125922701C>T	ENST00000348403.5	-	8	1097	c.668G>A	c.(667-669)cGc>cAc	p.R223H	STRBP_ENST00000447404.2_Missense_Mutation_p.R223H|STRBP_ENST00000360998.3_Missense_Mutation_p.R209H	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	223	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACGCAGAATGCGGAGGACAAT	0.393																																						uc004bns.2																			0				breast(1)|skin(1)	2						c.(667-669)CGC>CAC		spermatid perinuclear RNA binding protein							104.0	93.0	97.0					9																	125922701		2203	4300	6503	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125922701C>T	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.668G>A	9.37:g.125922701C>T	ENSP00000321347:p.Arg223His					STRBP_uc004bnt.2_Missense_Mutation_p.R41H|STRBP_uc004bnu.2_Missense_Mutation_p.R209H|STRBP_uc004bnv.2_Missense_Mutation_p.R223H	p.R223H	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			8	1098	-			223			DZF.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.668G>A	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264048	0.95399	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	DZF (2);	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87781	0.2612	10	0.87932	D	0	-5.5677	20.0693	0.97712	0.0:1.0:0.0:0.0	.	223	Q96SI9	STRBP_HUMAN	H	223;223;209	ENSP00000415968:R223H;ENSP00000321347:R223H;ENSP00000354271:R209H	ENSP00000321347:R223H	R	-	2	0	STRBP	124962522	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	6.095000	0.71439	2.758000	0.94735	0.563000	0.77884	CGC		0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
NTNG2	84628	broad.mit.edu	37	9	135073844	135073844	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:135073844G>A	ENST00000393229.3	+	3	1481	c.705G>A	c.(703-705)acG>acA	p.T235T	NTNG2_ENST00000372179.3_Silent_p.T235T|NTNG2_ENST00000393228.4_Silent_p.T235T|NTNG2_ENST00000360670.3_Silent_p.T235T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	235	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTCTACACGCGGCTGGAGA	0.677																																						uc004cbh.2																			0					0						c.(703-705)ACG>ACA		netrin G2 precursor							55.0	57.0	56.0					9																	135073844		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073844G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.705G>A	9.37:g.135073844G>A							p.T235T	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1481	+			235			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.705G>A	CCDS6946.1																																																																																				0.677	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
SEC16A	9919	broad.mit.edu	37	9	139350207	139350207	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:139350207C>T	ENST00000371706.3	-	18	5202	c.5169G>A	c.(5167-5169)ccG>ccA	p.P1723P	SEC16A_ENST00000313050.7_Silent_p.P1901P|SEC16A_ENST00000290037.6_Silent_p.P1723P|SEC16A_ENST00000431893.2_Silent_p.P1723P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1723					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACTGCTGCGGGAGGGCTC	0.667																																						uc004chx.2																			0					0						c.(5701-5703)CCG>CCA		SEC16 homolog A							21.0	27.0	25.0					9																	139350207		2111	4215	6326	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350207C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5169G>A	9.37:g.139350207C>T						SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'Flank|SEC16A_uc004chu.2_Silent_p.P86P|SEC16A_uc004chv.3_Silent_p.P1291P|SEC16A_uc004chw.2_Silent_p.P1901P|SEC16A_uc010nbn.2_Silent_p.P1901P	p.P1901P	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	20	6012	-		Myeloproliferative disorder(178;0.0511)	1723					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.5703G>A																																																																																					0.667	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
SLC34A3	142680	broad.mit.edu	37	9	140128881	140128881	+	Silent	SNP	G	G	A	rs550877277	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140128881G>A	ENST00000538474.1	+	11	1331	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	SLC34A3_ENST00000361134.2_Silent_p.P369P	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	369					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCCTTCCCGCTGGGCTGGC	0.716													G|||	3	0.000599042	0.0	0.0014	5008	,	,		11252	0.0		0.0	False		,,,				2504	0.002					uc004cmf.1																			0					0						c.(1105-1107)CCG>CCA		solute carrier family 34 (sodium phosphate),							9.0	12.0	11.0					9																	140128881		2141	4227	6368	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128881G>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1107G>A	9.37:g.140128881G>A						SLC34A3_uc011met.1_Silent_p.P369P	p.P369P	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1293	+	all_cancers(76;0.0926)		369			Helical; Name=M5; (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1107G>A	CCDS7038.1																																																																																				0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877	
PNPLA7	375775	broad.mit.edu	37	9	140356687	140356687	+	Missense_Mutation	SNP	G	G	A	rs188270302		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140356687G>A	ENST00000277531.4	-	30	3700	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R778C|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000406427.1_Missense_Mutation_p.R1197C|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371473.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1172					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGGGGGGGCGCAGGTACTCG	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15491	0.0		0.0	False		,,,				2504	0.0					uc004cnf.2																			0				skin(1)	1						c.(3514-3516)CGC>TGC		patatin-like phospholipase domain containing 7		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	49.0	47.0	48.0		3589,3514	3.4	1.0	9		48	1,8595	1.2+/-3.3	0,1,4297	yes	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	180,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1197/1343,1172/1318	140356687	1,13001	2203	4298	6501	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356687G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3514C>T	9.37:g.140356687G>A	ENSP00000277531:p.Arg1172Cys					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.R419C|PNPLA7_uc004cne.1_Missense_Mutation_p.R438C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R580C|PNPLA7_uc010ncj.1_Missense_Mutation_p.R1197C|NELF_uc004cna.2_5'Flank|NELF_uc011mez.1_5'Flank|NELF_uc004cmz.2_5'Flank|NELF_uc004cnc.2_5'Flank|NELF_uc004cnb.2_5'Flank	p.R1172C	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	30	3851	-	all_cancers(76;0.126)		1172					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3514C>T	CCDS7045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.57	2.873903	0.51695	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	4.36	3.42	0.39159	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.89722	0.6797	M	0.92970	3.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.993;0.997	D	0.91128	0.4935	10	0.87932	D	0	-26.6387	12.4006	0.55410	0.0:0.0:0.8244:0.1756	.	580;1197;1172;419	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	C	778;580;1172;1197;1172;1163	ENSP00000360512:R778C;ENSP00000360501:R580C;ENSP00000277531:R1172C;ENSP00000384610:R1197C;ENSP00000400582:R1163C	ENSP00000277531:R1172C	R	-	1	0	PNPLA7	139476508	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	4.210000	0.58500	0.886000	0.36113	0.561000	0.74099	CGC		0.647	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	rs538892595		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140361890G>A	ENST00000277531.4	-	25	3029	c.2843C>T	c.(2842-2844)gCg>gTg	p.A948V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.A554V|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A973V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	948	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.001					uc004cnf.2																			0				skin(1)	1						c.(2842-2844)GCG>GTG		patatin-like phospholipase domain containing 7							87.0	72.0	77.0					9																	140361890		2203	4299	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361890G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2843C>T	9.37:g.140361890G>A	ENSP00000277531:p.Ala948Val					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc010ncj.1_Missense_Mutation_p.A973V	p.A948V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	25	3180	-	all_cancers(76;0.126)		948			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2843C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	6.765	0.510093	0.12883	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.41	3.23	0.37069	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	1.200670	0.05642	N	0.583553	T	0.67021	0.2849	N	0.25380	0.74	0.09310	N	1	B;B;B;B	0.21071	0.051;0.009;0.004;0.0	B;B;B;B	0.18561	0.022;0.006;0.004;0.002	T	0.55780	-0.8087	10	0.51188	T	0.08	-3.1521	6.744	0.23451	0.3414:0.0:0.6586:0.0	.	356;973;948;214	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	V	554;356;948;973;948;939	ENSP00000360512:A554V;ENSP00000360501:A356V;ENSP00000277531:A948V;ENSP00000384610:A973V;ENSP00000400582:A939V	ENSP00000277531:A948V	A	-	2	0	PNPLA7	139481711	0.000000	0.05858	0.033000	0.17914	0.004000	0.04260	-0.060000	0.11712	1.279000	0.44446	0.561000	0.74099	GCG		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
ZBED1	9189	broad.mit.edu	37	X	2408513	2408513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:2408513G>A	ENST00000381223.4	-	2	451	c.248C>T	c.(247-249)aCg>aTg	p.T83M	ZBED1_ENST00000381218.3_Missense_Mutation_p.T83M|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Missense_Mutation_p.T83M	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	83					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCTGCTCCGTGTTGCTCTT	0.632																																						uc004cqg.2																			0					0						c.(247-249)ACG>ATG		zinc finger, BED-type containing 1							195.0	174.0	181.0					X																	2408513		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408513G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.248C>T	X.37:g.2408513G>A	ENSP00000370621:p.Thr83Met					DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T83M	p.T83M	NM_004729	NP_004720	O96006	ZBED1_HUMAN			2	449	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	83					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.248C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169287	0.57584	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	2.62	0.31277	.	0.172732	0.35207	U	0.003379	T	0.63082	0.2481	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.55842	-0.8077	8	0.48119	T	0.1	-26.8773	13.0583	0.58992	0.0:0.0:1.0:0.0	.	83	O96006	ZBED1_HUMAN	M	83	.	ENSP00000370616:T83M	T	-	2	0	ZBED1	2418513	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.339000	0.72969	1.086000	0.41228	0.425000	0.28330	ACG		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729	
HDHD1	8226	broad.mit.edu	37	X	6995419	6995419	+	Missense_Mutation	SNP	C	C	T	rs182257555		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:6995419C>T	ENST00000381077.5	-	3	428	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	HDHD1_ENST00000412827.2_Missense_Mutation_p.A75T|HDHD1_ENST00000424830.2_Missense_Mutation_p.A141T|HDHD1_ENST00000540122.1_Missense_Mutation_p.A118T	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	118					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TCGAACGACGCGGACCCCGAG	0.582																																						uc004crv.2																			0					0						c.(352-354)GCG>ACG		haloacid dehalogenase-like hydrolase domain							44.0	46.0	45.0					X																	6995419		2052	4172	6224	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:6995419C>T	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.352G>A	X.37:g.6995419C>T	ENSP00000370467:p.Ala118Thr					HDHD1A_uc011mhm.1_Missense_Mutation_p.A141T|HDHD1A_uc011mhn.1_Missense_Mutation_p.A75T|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Missense_Mutation_p.A118T	p.A118T	NM_012080	NP_036212	Q08623	HDHD1_HUMAN			3	429	-		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)	118					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.352G>A	CCDS48075.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	7.034	0.561246	0.13498	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	3.88	-0.796	0.10912	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	1.438360	0.04270	N	0.341826	T	0.04452	0.0122	L	0.43646	1.37	0.09310	N	1	P;B;B;B	0.43826	0.818;0.019;0.054;0.023	B;B;B;B	0.26969	0.075;0.016;0.047;0.019	T	0.46735	-0.9170	10	0.17832	T	0.49	-22.9686	6.8034	0.23764	0.4243:0.4854:0.0:0.0903	.	118;75;141;118	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	T	118;134;75;141;118;118	ENSP00000370467:A118T;ENSP00000406260:A75T;ENSP00000396452:A141T;ENSP00000441208:A118T;ENSP00000430995:A118T	ENSP00000370467:A118T	A	-	1	0	HDHD1	7005419	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.952000	0.29149	-0.163000	0.10946	0.513000	0.50165	GCG		0.582	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080	
CXorf22	170063	broad.mit.edu	37	X	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:35993898C>T	ENST00000297866.5	+	15	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438																																						uc004ddj.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2581-2583)CGA>TGA		hypothetical protein LOC170063							181.0	156.0	164.0					X																	35993898		2202	4300	6502	SO:0001587	stop_gained	170063							g.chrX:35993898C>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2581C>T	X.37:g.35993898C>T	ENSP00000297866:p.Arg861*					CXorf22_uc010ngv.2_RNA	p.R861*	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			15	2640	+			861					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.2581C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	34	5.364837	0.95877	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.14	5.14	0.70334	.	0.908232	0.09382	N	0.809848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.9463	10.2556	0.43394	0.1974:0.8026:0.0:0.0	.	.	.	.	X	861	.	ENSP00000297866:R861X	R	+	1	2	CXorf22	35903819	0.043000	0.20138	0.534000	0.28014	0.063000	0.16089	1.187000	0.32090	2.117000	0.64856	0.600000	0.82982	CGA		0.438	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	301					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498																																						uc011mnw.1																			0				ovary(2)	2						c.(901-903)CGC>TGC		bone morphogenetic protein 15 precursor							127.0	109.0	115.0					X																	50659329		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659329C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.901C>T	X.37:g.50659329C>T	ENSP00000252677:p.Arg301Cys						p.R301C	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	901	+	Ovarian(276;0.236)		301					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.901C>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228787	0.22542	.	.	ENSG00000130385	ENST00000252677	D	0.89939	-2.59	5.58	2.65	0.31530	Transforming growth factor-beta, C-terminal (3);	0.892392	0.10051	N	0.722224	D	0.91260	0.7245	M	0.75777	2.31	0.19575	N	0.999968	D	0.64830	0.994	P	0.55055	0.767	T	0.80585	-0.1317	10	0.66056	D	0.02	.	6.7908	0.23699	0.3088:0.6043:0.0:0.087	.	301	O95972	BMP15_HUMAN	C	301	ENSP00000252677:R301C	ENSP00000252677:R301C	R	+	1	0	BMP15	50676069	0.000000	0.05858	0.039000	0.18376	0.003000	0.03518	0.110000	0.15437	0.517000	0.28361	-0.215000	0.12644	CGC		0.498	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
ATRX	546	broad.mit.edu	37	X	76814187	76814187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:76814187G>A	ENST00000373344.5	-	29	6671	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_ENST00000395603.3_Missense_Mutation_p.R2115C|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2153	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R2153C(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTCCAAAGCGATAAACTCTG	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		2	Substitution - Missense(1)|Unknown(1)		central_nervous_system(1)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(6457-6459)CGC>TGC		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						87.0	85.0	86.0					X																	76814187		2203	4293	6496	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814187G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6457C>T	X.37:g.76814187G>A	ENSP00000362441:p.Arg2153Cys					ATRX_uc004ecq.3_Missense_Mutation_p.R2115C|ATRX_uc004eco.3_Missense_Mutation_p.R1938C	p.R2153C	NM_000489	NP_000480	P46100	ATRX_HUMAN			29	6689	-			2153			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6457C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570370	0.65765	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94793	-3.52;-3.52	5.21	5.21	0.72293	Helicase, C-terminal (3);	0.000000	0.85682	U	0.000000	D	0.98757	0.9582	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99686	1.1000	10	0.87932	D	0	-2.4961	17.8291	0.88676	0.0:0.0:1.0:0.0	.	2115;2153	P46100-4;P46100	.;ATRX_HUMAN	C	2153;2115	ENSP00000362441:R2153C;ENSP00000378967:R2115C	ENSP00000362441:R2153C	R	-	1	0	ATRX	76700843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.141000	0.66446	0.600000	0.82982	CGC		0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
PCDH19	57526	broad.mit.edu	37	X	99662086	99662086	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:99662086T>C	ENST00000373034.4	-	1	3185	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	PCDH19_ENST00000255531.7_Missense_Mutation_p.T504A|PCDH19_ENST00000420881.2_Missense_Mutation_p.T504A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGACATAGGTGAAGACAGGC	0.577																																						uc010nmz.2																			0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1510-1512)ACC>GCC		protocadherin 19 isoform b							95.0	96.0	96.0					X																	99662086		2154	4252	6406	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662086T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1510A>G	X.37:g.99662086T>C	ENSP00000362125:p.Thr504Ala					PCDH19_uc004efw.3_Missense_Mutation_p.T504A|PCDH19_uc004efx.3_Missense_Mutation_p.T504A	p.T504A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3186	-			504			Cadherin 5.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1510A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232223	0.58777	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.50548	0.74;0.74;0.74	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.049950	0.85682	D	0.000000	T	0.59756	0.2217	L	0.48260	1.515	0.58432	D	0.999999	P;D;D	0.55385	0.832;0.964;0.971	P;P;P	0.62298	0.669;0.839;0.9	T	0.60239	-0.7302	10	0.49607	T	0.09	.	14.8243	0.70097	0.0:0.0:0.0:1.0	.	504;504;504	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	504	ENSP00000400327:T504A;ENSP00000362125:T504A;ENSP00000255531:T504A	ENSP00000255531:T504A	T	-	1	0	PCDH19	99548742	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.082000	0.71318	1.882000	0.54519	0.417000	0.27973	ACC		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
FLNA	2316	broad.mit.edu	37	X	153580717	153580717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153580717G>A	ENST00000369850.3	-	41	6837	c.6601C>T	c.(6601-6603)Cgc>Tgc	p.R2201C	FLNA_ENST00000360319.4_Missense_Mutation_p.R2193C|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R334C|FLNA_ENST00000422373.1_Missense_Mutation_p.R2193C|FLNA_ENST00000344736.4_Missense_Mutation_p.R2161C	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2201					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACAAAGCGGATGCAGTAG	0.597																																						uc004fkk.2																			0				breast(6)	6						c.(6601-6603)CGC>TGC		filamin A, alpha isoform 2							81.0	87.0	85.0					X																	153580717		2187	4269	6456	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580717G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6601C>T	X.37:g.153580717G>A	ENSP00000358866:p.Arg2201Cys					FLNA_uc004fki.2_Missense_Mutation_p.R244C|FLNA_uc011mzn.1_Missense_Mutation_p.R334C|FLNA_uc010nuu.1_Missense_Mutation_p.R2193C	p.R2201C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			41	6850	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		2201			Filamin 20.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6601C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544315	0.65198	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.23	5.23	0.72850	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93452	0.7911	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;P;P;P	0.87578	0.998;0.888;0.895;0.895	D	0.94608	0.7802	10	0.87932	D	0	.	17.9264	0.88985	0.0:0.0:1.0:0.0	.	334;2193;2201;2201	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	C	2193;2193;2201;334;2161;141	ENSP00000353467:R2193C;ENSP00000416926:R2193C;ENSP00000358866:R2201C;ENSP00000358872:R334C;ENSP00000358863:R2161C;ENSP00000397824:R141C	ENSP00000358863:R2161C	R	-	1	0	FLNA	153233911	1.000000	0.71417	0.996000	0.52242	0.413000	0.31143	9.817000	0.99352	2.167000	0.68274	0.513000	0.50165	CGC		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
FLNA	2316	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A	rs372110377		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153587696G>A	ENST00000369850.3	-	25	4457	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000360319.4_Silent_p.D1407D|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Silent_p.D1407D|FLNA_ENST00000344736.4_Silent_p.D1407D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632																																						uc004fkk.2																			0				breast(6)	6						c.(4219-4221)GAC>GAT		filamin A, alpha isoform 2							60.0	68.0	66.0					X																	153587696		2087	4194	6281	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587696G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4221C>T	X.37:g.153587696G>A						FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			25	4470	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1407			Filamin 12.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4221C>T	CCDS48194.1																																																																																				0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
