#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ALDH4A1	8659	broad.mit.edu	37	1	19212114	19212114	+	Silent	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:19212114G>C	ENST00000375341.3	-	5	563	c.306C>G	c.(304-306)ctC>ctG	p.L102L	MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.L42L|ALDH4A1_ENST00000290597.5_Silent_p.L102L|ALDH4A1_ENST00000454547.1_5'Flank|ALDH4A1_ENST00000538839.1_Silent_p.L102L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	102					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.L102L(2)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTTGTTGAGCAGGCTCT	0.622																																						uc001bbb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(304-306)CTC>CTG		aldehyde dehydrogenase 4A1 isoform a precursor	NADH(DB00157)						39.0	37.0	38.0					1																	19212114		2203	4300	6503	SO:0001819	synonymous_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19212114G>C	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.306C>G	1.37:g.19212114G>C						ALDH4A1_uc010ocu.1_Silent_p.L42L|ALDH4A1_uc001bbc.2_Silent_p.L102L	p.L102L	NM_170726	NP_733844	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	582	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	102					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	c.306C>G	CCDS188.1																																																																																				PASS	0.622	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			9	35	9	35	---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23395630	23395630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:23395630G>T	ENST00000356634.3	+	10	1476	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Nonsense_Mutation_p.E467*|KDM1A_ENST00000400181.4_Nonsense_Mutation_p.E467*	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	443	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E467*(1)|p.E443*(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAATTGAAAGAACTTCTTAA	0.308																																						uc001bgi.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|lung(1)	2						c.(1327-1329)GAA>TAA		lysine-specific histone demethylase 1 isoform b							53.0	53.0	53.0					1																	23395630		2203	4300	6503	SO:0001587	stop_gained	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23395630G>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1327G>T	1.37:g.23395630G>T	ENSP00000349049:p.Glu443*					KDM1A_uc001bgj.2_Nonsense_Mutation_p.E467*	p.E443*	NM_015013	NP_055828	O60341	KDM1A_HUMAN			10	1476	+			443			Potential.|Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Nonsense_Mutation	SNP	ENST00000356634.3	37	c.1327G>T	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	39	7.696401	0.98438	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	.	.	.	5.84	5.84	0.93424	.	0.139133	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-26.8731	19.1228	0.93371	0.0:0.0:1.0:0.0	.	.	.	.	X	443;467;467	.	ENSP00000349049:E443X	E	+	1	0	KDM1A	23268217	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.845000	0.99498	2.765000	0.95021	0.655000	0.94253	GAA		PASS	0.308	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		13	65	13	65	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35915491	35915491	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:35915491C>T	ENST00000325722.3	-	15	2564	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.R214Q	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	777	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R777Q(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACAGTGGTCCGGTCTGTGTC	0.483																																						uc001byx.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(2329-2331)CGG>CAG		dyslexia susceptibility 2-like							155.0	113.0	127.0					1																	35915491		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35915491C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2330G>A	1.37:g.35915491C>T	ENSP00000318406:p.Arg777Gln					KIAA0319L_uc001byw.2_Missense_Mutation_p.R219Q|KIAA0319L_uc010ohv.1_Missense_Mutation_p.R419Q	p.R777Q	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			15	2588	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	777			PKD 5.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.2330G>A	CCDS390.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538937	0.45176	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982	T;T;T	0.13196	2.61;2.61;2.61	5.82	4.85	0.62838	PKD/Chitinase domain (1);PKD/REJ-like protein (1);PKD domain (2);	0.134780	0.64402	N	0.000003	T	0.12475	0.0303	N	0.04320	-0.23	0.80722	D	1	B;B;D	0.76494	0.266;0.019;0.999	B;B;P	0.58266	0.027;0.013;0.836	T	0.35919	-0.9769	10	0.18276	T	0.48	-11.3918	12.7916	0.57537	0.0:0.9152:0.0:0.0848	.	777;777;219	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	Q	777;214;777	ENSP00000318406:R777Q;ENSP00000362363:R214Q;ENSP00000395883:R777Q	ENSP00000318406:R777Q	R	-	2	0	KIAA0319L	35688078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.366000	0.34193	1.330000	0.45394	0.655000	0.94253	CGG		PASS	0.483	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		27	67	27	67	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46093993	46093993	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:46093993C>G	ENST00000290795.3	-	12	2581	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.E454Q|GPBP1L1_ENST00000479235.1_5'UTR			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	454					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E454Q(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCCTCAAACTCTGCTTTGCAA	0.463																																						uc001coq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1360-1362)GAG>CAG		GC-rich promoter binding protein 1-like 1							164.0	157.0	159.0					1																	46093993		2203	4300	6503	SO:0001583	missense	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46093993C>G		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1360G>C	1.37:g.46093993C>G	ENSP00000290795:p.Glu454Gln					GPBP1L1_uc001coo.2_Missense_Mutation_p.E198Q	p.E454Q	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			13	2721	-	Acute lymphoblastic leukemia(166;0.155)		454					D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	c.1360G>C	CCDS528.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556860	0.65425	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.46819	0.86;0.86	5.72	4.8	0.61643	.	0.391972	0.31884	N	0.006912	T	0.53334	0.1790	L	0.44542	1.39	0.35235	D	0.77727	D	0.71674	0.998	D	0.72625	0.978	T	0.60949	-0.7161	10	0.27082	T	0.32	-17.5722	5.9886	0.19448	0.1412:0.6461:0.1365:0.0762	.	454	Q9HC44	GPBL1_HUMAN	Q	454	ENSP00000290795:E454Q;ENSP00000347224:E454Q	ENSP00000290795:E454Q	E	-	1	0	GPBP1L1	45866580	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	1.207000	0.32333	1.546000	0.49388	0.655000	0.94253	GAG		PASS	0.463	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		56	277	56	277	---	---	---	---
CYP4B1	1580	broad.mit.edu	37	1	47283815	47283815	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:47283815C>G	ENST00000271153.4	+	11	1318	c.1282C>G	c.(1282-1284)Ctg>Gtg	p.L428V	CYP4B1_ENST00000371923.4_Missense_Mutation_p.L429V|CYP4B1_ENST00000452782.2_Missense_Mutation_p.L266V|CYP4B1_ENST00000371919.4_Missense_Mutation_p.L414V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	428					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.L428V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CTTTGACTCTCTGCGCTTTTC	0.582																																						uc001cqm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1282-1284)CTG>GTG		cytochrome P450, family 4, subfamily B,							148.0	137.0	140.0					1																	47283815		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283815C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1282C>G	1.37:g.47283815C>G	ENSP00000271153:p.Leu428Val					CYP4B1_uc001cqn.3_Missense_Mutation_p.L429V|CYP4B1_uc009vym.2_Missense_Mutation_p.L414V|CYP4B1_uc010omk.1_Missense_Mutation_p.L265V	p.L428V	NM_000779	NP_000770	P13584	CP4B1_HUMAN			11	1366	+	Acute lymphoblastic leukemia(166;0.155)		428					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1282C>G	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452886	0.26161	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.79141	-1.24;-1.24;-0.33;-1.24	6.17	2.27	0.28462	.	0.069747	0.64402	D	0.000013	T	0.79251	0.4414	M	0.70595	2.14	0.40433	D	0.979964	P;P;P	0.46020	0.871;0.553;0.607	P;B;P	0.51550	0.673;0.373;0.589	T	0.74417	-0.3672	10	0.36615	T	0.2	.	7.422	0.27077	0.1196:0.6903:0.0:0.1901	.	414;429;428	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	V	429;428;414;266	ENSP00000360991:L429V;ENSP00000271153:L428V;ENSP00000360987:L414V;ENSP00000400413:L266V	ENSP00000271153:L428V	L	+	1	2	CYP4B1	47056402	0.000000	0.05858	0.813000	0.32504	0.011000	0.07611	-0.647000	0.05397	0.177000	0.19895	-0.136000	0.14681	CTG		PASS	0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		89	80	89	80	---	---	---	---
C8A	731	broad.mit.edu	37	1	57349275	57349275	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:57349275G>C	ENST00000361249.3	+	6	872	c.776G>C	c.(775-777)aGc>aCc	p.S259T		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	259	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.S259T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCAGCCGGCAGCCCTTTATTG	0.403																																						uc001cyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(775-777)AGC>ACC		complement component 8, alpha polypeptide							73.0	73.0	73.0					1																	57349275		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349275G>C	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.776G>C	1.37:g.57349275G>C	ENSP00000354458:p.Ser259Thr						p.S259T	NM_000562	NP_000553	P07357	CO8A_HUMAN			6	908	+			259			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.776G>C	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	6.123	0.391013	0.11581	.	.	ENSG00000157131	ENST00000361249	T	0.76578	-1.03	5.84	-11.0	0.00169	Membrane attack complex component/perforin (MACPF) domain (1);	2.415260	0.01289	N	0.009957	T	0.62551	0.2437	L	0.60455	1.87	0.09310	N	1	B	0.26672	0.156	B	0.21917	0.037	T	0.49826	-0.8898	10	0.08381	T	0.77	-0.0038	4.1492	0.10230	0.1348:0.2975:0.1155:0.4522	.	259	P07357	CO8A_HUMAN	T	259	ENSP00000354458:S259T	ENSP00000354458:S259T	S	+	2	0	C8A	57121863	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.853000	0.00350	-1.769000	0.01297	0.591000	0.81541	AGC		PASS	0.403	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		18	123	18	123	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67154905	67154906	+	Missense_Mutation	DNP	CG	CG	TT	rs372927369		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:67154905_67154906CG>TT	ENST00000371037.4	+	16	1467_1468	c.1390_1391CG>TT	c.(1390-1392)CGg>TTg	p.R464L	SGIP1_ENST00000371036.3_Missense_Mutation_p.R264L|SGIP1_ENST00000371039.1_Missense_Mutation_p.R265L|SGIP1_ENST00000237247.6_Missense_Mutation_p.R495L|SGIP1_ENST00000371035.3_Missense_Mutation_p.R254L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	464	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.R265L(2)|p.R464L(2)|p.R464W(1)|p.R265W(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACCTCCTCCCCGGCCTCCATCC	0.525																																						uc001dcr.2																			6	Substitution - Missense(6)		lung(6)	ovary(3)	3						c.(1390-1392)CGG>TGG|c.(1390-1392)CGG>CTG		SH3-domain GRB2-like (endophilin) interacting																																				SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67154905C>T|g.chr1:67154906G>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	Exception_encountered	1.37:g.67154905_67154906delinsTT	ENSP00000360076:p.Arg464Leu					SGIP1_uc010opd.1_Missense_Mutation_p.R64W|SGIP1_uc001dcs.2_Missense_Mutation_p.R64W|SGIP1_uc001dct.2_Missense_Mutation_p.R64W|SGIP1_uc009wat.2_Missense_Mutation_p.R258W|SGIP1_uc010opd.1_Missense_Mutation_p.R64L|SGIP1_uc001dcs.2_Missense_Mutation_p.R64L|SGIP1_uc001dct.2_Missense_Mutation_p.R64L|SGIP1_uc009wat.2_Missense_Mutation_p.R258L	p.R464W|p.R464L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			16	1607|1608	+			464			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1390C>T|c.1391G>T	CCDS30744.1																																																																																				PASS	0.525	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		94	336|333	94	333	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79095529	79095529	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:79095529A>C	ENST00000370751.5	+	4	831	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	218					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.K179Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAATTCAGTCAAGTCTATTTT	0.438																																						uc010oro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)AAG>CAG		interferon-induced protein 44-like							111.0	110.0	111.0					1																	79095529		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79095529A>C	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.652A>C	1.37:g.79095529A>C	ENSP00000359787:p.Lys218Gln					IFI44L_uc010orp.1_5'UTR|IFI44L_uc010orq.1_Intron	p.K218Q	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			4	831	+			218					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.652A>C	CCDS687.2	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724604	0.68959	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.14893	2.81;2.47	2.95	2.95	0.34219	.	0.067085	0.56097	D	0.000025	T	0.16981	0.0408	L	0.37850	1.14	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.01245	-1.1407	10	0.48119	T	0.1	-14.4183	9.3468	0.38113	1.0:0.0:0.0:0.0	.	218	Q53G44	IF44L_HUMAN	Q	218;195	ENSP00000359787:K218Q;ENSP00000400784:K195Q	ENSP00000359787:K218Q	K	+	1	0	IFI44L	78868117	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	4.340000	0.59328	1.590000	0.49995	0.416000	0.27883	AAG		PASS	0.438	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		27	84	27	84	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880393	84880393	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:84880393A>G	ENST00000370665.3	+	6	961	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNASE2B_ENST00000370662.3_Missense_Mutation_p.I102V	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	310					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.I310V(1)|p.I102V(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAAGTGGTGTATTTCCCAAAA	0.403																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(928-930)ATT>GTT	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							59.0	57.0	57.0					1																	84880393		2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880393A>G	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.928A>G	1.37:g.84880393A>G	ENSP00000359699:p.Ile310Val					DNASE2B_uc001dju.1_Missense_Mutation_p.I102V|DNASE2B_uc009wch.1_Missense_Mutation_p.I102V	p.I310V	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	961	+			310					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.928A>G	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	A	4.504	0.093489	0.08632	.	.	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.09817	2.94;2.94	5.28	-4.85	0.03142	.	0.322422	0.32386	N	0.006179	T	0.00637	0.0021	N	0.00303	-1.675	0.23361	N	0.997835	B	0.02656	0.0	B	0.04013	0.001	T	0.32402	-0.9908	10	0.02654	T	1	-15.6291	19.6949	0.96021	0.1453:0.0:0.8547:0.0	.	310	Q8WZ79	DNS2B_HUMAN	V	310;102	ENSP00000359699:I310V;ENSP00000359696:I102V	ENSP00000359696:I102V	I	+	1	0	DNASE2B	84652981	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	1.869000	0.39519	-0.794000	0.04468	0.533000	0.62120	ATT		PASS	0.403	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		3	73	3	73	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118567962	118567962	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:118567962C>G	ENST00000336338.5	-	27	3873	c.3808G>C	c.(3808-3810)Gag>Cag	p.E1270Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1270						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1270Q(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTATAGAACTCATAGTGCTTC	0.463																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(3808-3810)GAG>CAG		sperm associated antigen 17							100.0	97.0	98.0					1																	118567962		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118567962C>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3808G>C	1.37:g.118567962C>G	ENSP00000337804:p.Glu1270Gln						p.E1270Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	27	3876	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1270					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.3808G>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128825	0.37533	.	.	ENSG00000155761	ENST00000336338	T	0.16073	2.37	5.85	3.84	0.44239	.	0.822089	0.11499	N	0.557934	T	0.03263	0.0095	N	0.16098	0.37	0.20926	N	0.999829	B	0.24823	0.112	B	0.20384	0.029	T	0.32798	-0.9893	10	0.09590	T	0.72	.	14.9869	0.71356	0.0:0.6347:0.3653:0.0	.	1270	Q6Q759	SPG17_HUMAN	Q	1270	ENSP00000337804:E1270Q	ENSP00000337804:E1270Q	E	-	1	0	SPAG17	118369485	0.777000	0.28628	0.987000	0.45799	0.896000	0.52359	1.604000	0.36804	1.459000	0.47892	0.655000	0.94253	GAG		PASS	0.463	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		33	119	33	119	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144865917	144865917	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:144865917T>A	ENST00000369354.3	-	35	5852	c.5663A>T	c.(5662-5664)aAc>aTc	p.N1888I	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.N1782I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.N1888I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.N1973I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.N2024I|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1888					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.N1888I(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGTAGAAGTTAGAAGTGGA	0.463			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5662-5664)AAC>ATC		phosphodiesterase 4D interacting protein isoform							256.0	276.0	269.0					1																	144865917		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144865917T>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5663A>T	1.37:g.144865917T>A	ENSP00000358360:p.Asn1888Ile					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.N1782I|PDE4DIP_uc001elv.3_Missense_Mutation_p.N895I|PDE4DIP_uc001ema.2_Missense_Mutation_p.N75I	p.N1888I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	35	5954	-			1888			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5663A>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.85|10.85	1.465825|1.465825	0.26335|0.26335	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02709|.	4.2;4.2;4.19;4.3;4.24|.	5.72|5.72	3.38|3.38	0.38709|0.38709	.|.	.|.	.|.	.|.	.|.	T|T	0.53481|0.53481	0.1799|0.1799	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;B|.	0.53885|.	0.963;0.337|.	P;B|.	0.51385|.	0.668;0.133|.	T|T	0.56631|0.56631	-0.7947|-0.7947	9|5	0.87932|.	D|.	0|.	.|.	6.8285|6.8285	0.23897|0.23897	0.0:0.2324:0.0:0.7676|0.0:0.2324:0.0:0.7676	.|.	1782;1888|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	I|S	1782;1888;1888;1973;2024|45	ENSP00000327209:N1782I;ENSP00000358360:N1888I;ENSP00000358363:N1888I;ENSP00000435654:N1973I;ENSP00000358366:N2024I|.	ENSP00000327209:N1782I|.	N|T	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143577274|143577274	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.045000|0.045000	0.14185|0.14185	1.987000|1.987000	0.40687|0.40687	0.987000|0.987000	0.38709|0.38709	0.528000|0.528000	0.53228|0.53228	AAC|ACT		PASS	0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		75	472	75	472	---	---	---	---
LIX1L	128077	broad.mit.edu	37	1	145498774	145498774	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:145498774G>A	ENST00000369308.3	+	6	1084	c.1010G>A	c.(1009-1011)tGc>tAc	p.C337Y	RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	337								p.C337Y(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTTCCAACTGCTAGGCATCC	0.458																																						uc001enr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1009-1011)TGC>TAC		Lix1 homolog (mouse) like							42.0	41.0	41.0					1																	145498774		2203	4300	6503	SO:0001583	missense	128077							g.chr1:145498774G>A	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.1010G>A	1.37:g.145498774G>A	ENSP00000358314:p.Cys337Tyr					NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank	p.C337Y	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN			6	1084	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		337					Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	c.1010G>A	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394889	0.62066	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.31	5.31	0.75309	.	0.109140	0.64402	D	0.000008	T	0.33847	0.0877	L	0.29908	0.895	0.38569	D	0.949898	B	0.32829	0.386	B	0.27715	0.082	T	0.44452	-0.9327	9	0.87932	D	0	-17.9876	16.5103	0.84282	0.0:0.0:1.0:0.0	.	337	Q8IVB5	LIX1L_HUMAN	Y	337;284	.	ENSP00000358314:C337Y	C	+	2	0	LIX1L	144210131	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.358000	0.52284	2.758000	0.94735	0.563000	0.77884	TGC		PASS	0.458	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713		24	60	24	60	---	---	---	---
HIST2H2AB	317772	broad.mit.edu	37	1	149859324	149859324	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:149859324G>C	ENST00000331128.3	-	1	142	c.143C>G	c.(142-144)gCc>gGc	p.A48G	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	48						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A48G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTACACCGGGGCGCCTGCCCC	0.687																																						uc001ete.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(142-144)GCC>GGC		histone cluster 2, H2ab							39.0	45.0	43.0					1																	149859324		2203	4300	6503	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859324G>C	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.143C>G	1.37:g.149859324G>C	ENSP00000332790:p.Ala48Gly					HIST2H2BE_uc001etc.2_5'Flank	p.A48G	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	143	-	Breast(34;0.0124)|all_hematologic(923;0.127)		48						Missense_Mutation	SNP	ENST00000331128.3	37	c.143C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329513	0.60743	.	.	ENSG00000184270	ENST00000331128	T	0.65549	-0.16	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.87269	2.87	0.58432	D	0.999997	B	0.29627	0.252	B	0.36845	0.234	T	0.70695	-0.4801	10	0.72032	D	0.01	.	16.7454	0.85470	0.0:0.0:1.0:0.0	.	48	Q8IUE6	H2A2B_HUMAN	G	48	ENSP00000332790:A48G	ENSP00000332790:A48G	A	-	2	0	HIST2H2AB	148125948	1.000000	0.71417	0.998000	0.56505	0.546000	0.35178	8.018000	0.88722	2.621000	0.88768	0.655000	0.94253	GCC		PASS	0.687	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		10	75	10	75	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281822	152281822	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:152281822G>A	ENST00000368799.1	-	3	5575	c.5540C>T	c.(5539-5541)aCg>aTg	p.T1847M	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1847	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1847M(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGGGACGTGGTGTGGCT	0.552									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5539-5541)ACG>ATG		filaggrin							356.0	349.0	352.0					1																	152281822		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281822G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5540C>T	1.37:g.152281822G>A	ENSP00000357789:p.Thr1847Met						p.T1847M	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5576	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1847			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5540C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.877	0.345891	0.11126	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01787	4.64	1.76	-1.18	0.09617	.	.	.	.	.	T	0.02012	0.0063	M	0.76838	2.35	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.37454	-0.9705	9	0.37606	T	0.19	.	3.4149	0.07372	0.1977:0.4185:0.3838:0.0	.	1847	P20930	FILA_HUMAN	M	1847;82	ENSP00000357789:T1847M	ENSP00000271820:T82M	T	-	2	0	FLG	150548446	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.711000	0.25764	-0.236000	0.09753	-0.236000	0.12185	ACG		PASS	0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		160	343	160	343	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160789114	160789114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:160789114C>G	ENST00000263285.6	+	7	1478	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	LY9_ENST00000368037.5_Nonsense_Mutation_p.S483*|LY9_ENST00000368040.1_Nonsense_Mutation_p.S135*|LY9_ENST00000341032.4_Nonsense_Mutation_p.S393*|LY9_ENST00000368041.2_Nonsense_Mutation_p.S353*|LY9_ENST00000392203.4_Nonsense_Mutation_p.S393*			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	483					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S483*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTCTCAGGTTCAGTCCCAGCC	0.493																																						uc001fwu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1447-1449)TCA>TGA		lymphocyte antigen 9 isoform a							150.0	144.0	146.0					1																	160789114		2203	4300	6503	SO:0001587	stop_gained	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160789114C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1448C>G	1.37:g.160789114C>G	ENSP00000263285:p.Ser483*					LY9_uc001fwv.2_Nonsense_Mutation_p.S483*|LY9_uc001fww.2_Nonsense_Mutation_p.S393*|LY9_uc001fwx.2_Nonsense_Mutation_p.S393*|LY9_uc001fwy.1_Nonsense_Mutation_p.S295*|LY9_uc001fwz.2_Nonsense_Mutation_p.S135*	p.S483*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	1498	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		483			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Nonsense_Mutation	SNP	ENST00000263285.6	37	c.1448C>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809220	0.70797	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	.	.	.	3.1	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.7464	6.4346	0.21817	0.0:0.8638:0.0:0.1362	.	.	.	.	X	483;393;135;483;353;443;295;135	.	ENSP00000263285:S483X	S	+	2	0	LY9	159055738	0.740000	0.28207	0.006000	0.13384	0.025000	0.11179	1.080000	0.30779	0.892000	0.36259	0.449000	0.29647	TCA		PASS	0.493	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		35	86	35	86	---	---	---	---
METTL13	51603	broad.mit.edu	37	1	171755047	171755047	+	Silent	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:171755047C>G	ENST00000361735.3	+	3	1208	c.942C>G	c.(940-942)ctC>ctG	p.L314L	METTL13_ENST00000362019.3_Silent_p.L228L|METTL13_ENST00000367737.5_Silent_p.L158L|METTL13_ENST00000458517.1_Silent_p.L313L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	314							methyltransferase activity (GO:0008168)	p.L314L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCGAGTGGCTCTTTGGCATGG	0.557																																						uc001ghz.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(940-942)CTC>CTG		CGI-01 protein isoform 1							54.0	52.0	52.0					1																	171755047		2203	4300	6503	SO:0001819	synonymous_variant	51603						methyltransferase activity|protein binding	g.chr1:171755047C>G	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.942C>G	1.37:g.171755047C>G						METTL13_uc001gia.2_Silent_p.L228L|METTL13_uc001gib.2_Silent_p.L158L|METTL13_uc010pml.1_Silent_p.L313L	p.L314L	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			3	1289	+			314					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	ENST00000361735.3	37	c.942C>G	CCDS1299.1																																																																																				PASS	0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		6	30	6	30	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092792	175092792	+	Silent	SNP	C	C	G	rs138898390		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:175092792C>G	ENST00000239462.4	+	12	3020	c.2907C>G	c.(2905-2907)gcC>gcG	p.A969A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	969	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.A969A(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCAAGGCCCAGACAGGTA	0.627																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2905-2907)GCC>GCG		tenascin N precursor							66.0	56.0	60.0					1																	175092792		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092792C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2907C>G	1.37:g.175092792C>G							p.A969A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	3020	+		Breast(1374;0.000962)	969			Fibronectin type-III 8.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2907C>G	CCDS30943.1																																																																																				PASS	0.627	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		5	88	5	88	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250258	177250258	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:177250258G>A	ENST00000361539.4	+	8	2258	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	649					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R649Q(2)									CTACGGAGCCGAATCAAGTCC	0.463																																						uc001glf.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1945-1947)CGA>CAA		family with sequence similarity 5, member B							62.0	61.0	61.0					1																	177250258		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250258G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1946G>A	1.37:g.177250258G>A	ENSP00000354481:p.Arg649Gln					FAM5B_uc001glg.2_Missense_Mutation_p.R544Q	p.R649Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2258	+			649					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1946G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190002	0.78789	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.17691	2.26	5.16	5.16	0.70880	.	0.062133	0.64402	D	0.000004	T	0.42787	0.1218	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.34700	-0.9818	10	0.72032	D	0.01	-7.2313	18.2239	0.89910	0.0:0.0:1.0:0.0	.	544;649	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Q	402;649	ENSP00000354481:R649Q	ENSP00000354481:R649Q	R	+	2	0	FAM5B	175516881	1.000000	0.71417	0.988000	0.46212	0.746000	0.42486	9.726000	0.98782	2.391000	0.81399	0.313000	0.20887	CGA		PASS	0.463	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		18	81	18	81	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177937043	177937043	+	Missense_Mutation	SNP	C	C	T	rs376159757		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:177937043C>T	ENST00000308284.6	-	2	163	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	SEC16B_ENST00000464631.2_Missense_Mutation_p.R25Q|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	25					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R25Q(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCGAAACCCTCGGTCTGGATC	0.577																																						uc001gli.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(73-75)CGA>CAA		leucine zipper transcription regulator 2		C	GLN/ARG	0,3972		0,0,1986	73.0	72.0	72.0		74	1.3	0.0	1		72	1,8331		0,1,4165	no	missense	SEC16B	NM_033127.2	43	0,1,6151	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging	25/1061	177937043	1,12303	1986	4166	6152	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177937043C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.74G>A	1.37:g.177937043C>T	ENSP00000308339:p.Arg25Gln					SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.R25Q|SEC16B_uc001gll.3_Missense_Mutation_p.R25Q	p.R25Q	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			2	164	-			25					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.74G>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	5.324	0.245114	0.10077	0.0	1.2E-4	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.44482	2.52;0.92	5.26	1.33	0.21861	.	0.679796	0.13410	N	0.389942	T	0.29158	0.0725	L	0.50333	1.59	0.09310	N	1	B;P;P	0.35155	0.343;0.487;0.487	B;B;B	0.18871	0.013;0.023;0.023	T	0.08027	-1.0742	10	0.38643	T	0.18	-0.2723	8.1324	0.31035	0.0:0.6718:0.0:0.3282	.	25;25;25	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	Q	25	ENSP00000308339:R25Q;ENSP00000431727:R25Q	ENSP00000308339:R25Q	R	-	2	0	AL359075.1	176203666	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.013000	0.12678	0.332000	0.23536	-0.226000	0.12346	CGA		PASS	0.577	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		19	42	19	42	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186308815	186308815	+	Silent	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:186308815T>C	ENST00000367478.4	-	30	4406	c.4110A>G	c.(4108-4110)caA>caG	p.Q1370Q		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1370					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q1371Q(1)|p.Q1370Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCTGTCAATTGTTGAATAC	0.303			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(4108-4110)CAA>CAG		nuclear pore complex-associated protein TPR							76.0	71.0	73.0					1																	186308815		1806	4074	5880	SO:0001819	synonymous_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186308815T>C	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4110A>G	1.37:g.186308815T>C							p.Q1370Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	30	4407	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1370			Potential.		Q15655|Q5SWY0|Q99968	Silent	SNP	ENST00000367478.4	37	c.4110A>G	CCDS41446.1																																																																																				PASS	0.303	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		17	59	17	59	---	---	---	---
C4BPA	722	broad.mit.edu	37	1	207304941	207304941	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:207304941C>T	ENST00000367070.3	+	8	1134	c.940C>T	c.(940-942)Cct>Tct	p.P314S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	314	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P314S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAAACATATCCTAGGCCGAC	0.433																																						uc001hfo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(940-942)CCT>TCT		complement component 4 binding protein, alpha							161.0	116.0	131.0					1																	207304941		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207304941C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.940C>T	1.37:g.207304941C>T	ENSP00000356037:p.Pro314Ser						p.P314S	NM_000715	NP_000706	P04003	C4BPA_HUMAN			8	1134	+			314			Sushi 5.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.940C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	0.559	-0.846224	0.02671	.	.	ENSG00000123838	ENST00000367070	T	0.63744	-0.06	3.83	-6.44	0.01920	Complement control module (2);Sushi/SCR/CCP (3);	3.280780	0.00751	N	0.001065	T	0.45498	0.1345	L	0.34521	1.04	0.09310	N	1	B	0.25007	0.116	B	0.27380	0.079	T	0.36286	-0.9754	10	0.09338	T	0.73	.	7.6126	0.28139	0.1247:0.2185:0.0:0.6567	.	314	P04003	C4BPA_HUMAN	S	314	ENSP00000356037:P314S	ENSP00000356037:P314S	P	+	1	0	C4BPA	205371564	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.277000	0.01160	-1.616000	0.01572	0.563000	0.77884	CCT		PASS	0.433	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			26	58	26	58	---	---	---	---
SYT14	255928	broad.mit.edu	37	1	210267799	210267799	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:210267799C>T	ENST00000472886.1	+	5	589	c.575C>T	c.(574-576)tCc>tTc	p.S192F	SYT14_ENST00000534859.1_Missense_Mutation_p.S192F|SYT14_ENST00000367015.1_Missense_Mutation_p.S154F|SYT14_ENST00000367019.1_Missense_Mutation_p.S192F|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.S154F|SYT14_ENST00000422431.1_Missense_Mutation_p.S237F|SYT14_ENST00000399639.2_Missense_Mutation_p.S192F			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	192					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.S192F(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGTGAATTTTCCCACTGCAGC	0.433																																						uc009xcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(574-576)TCC>TTC		synaptotagmin XIV isoform 4							115.0	109.0	111.0					1																	210267799		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267799C>T	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.575C>T	1.37:g.210267799C>T	ENSP00000418901:p.Ser192Phe					SYT14_uc001hhs.3_Missense_Mutation_p.S237F|SYT14_uc001hht.3_Missense_Mutation_p.S192F|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Missense_Mutation_p.S237F|SYT14_uc010pso.1_Missense_Mutation_p.S154F	p.S192F	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	5	647	+			192			Cytoplasmic (Potential).		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.575C>T	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643480	0.87859	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.19394	3.3;3.17;2.15;3.43;3.17;3.42;3.43	5.62	5.62	0.85841	.	0.134416	0.52532	D	0.000068	T	0.34629	0.0904	L	0.50333	1.59	0.80722	D	1	P;P;D;D	0.58620	0.902;0.943;0.983;0.979	P;P;P;P	0.53809	0.646;0.569;0.731;0.735	T	0.01393	-1.1366	10	0.51188	T	0.08	-8.0101	17.813	0.88622	0.0:1.0:0.0:0.0	.	220;192;192;237	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	F	237;192;192;154;192;192;154	ENSP00000389039:S237F;ENSP00000442891:S192F;ENSP00000445837:S192F;ENSP00000437423:S154F;ENSP00000355986:S192F;ENSP00000418901:S192F;ENSP00000355982:S154F	ENSP00000355982:S154F	S	+	2	0	SYT14	208334422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.589000	0.67523	2.650000	0.89964	0.591000	0.81541	TCC		PASS	0.433	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		25	57	25	57	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769169	247769169	+	Silent	SNP	C	C	T	rs373915603		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:247769169C>T	ENST00000320002.2	+	1	314	c.282C>T	c.(280-282)taC>taT	p.Y94Y	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y94Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CGATCACTTACGGTGGTTGTG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		22278	0.001		0.0	False		,,,				2504	0.0					uc010pyz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(280-282)TAC>TAT		olfactory receptor, family 2, subfamily G,		C		1,4405	2.1+/-5.4	0,1,2202	298.0	265.0	276.0		282	-6.1	0.0	1		276	0,8600		0,0,4300	no	coding-synonymous	OR2G3	NM_001001914.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		94/310	247769169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769169C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.282C>T	1.37:g.247769169C>T							p.Y94Y	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	282	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		94			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.282C>T	CCDS31093.1																																																																																				PASS	0.473	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			120	259	120	259	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308860	248308860	+	Missense_Mutation	SNP	A	A	C	rs569710089	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:248308860A>C	ENST00000366476.1	+	1	411	c.411A>C	c.(409-411)agA>agC	p.R137S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCTCATGAGACCCAAAATTT	0.453													N|||	2	0.000399361	0.0015	0.0	5008	,	,		21413	0.0		0.0	False		,,,				2504	0.0					uc010pze.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(409-411)AGA>AGC		olfactory receptor, family 2, subfamily M,							266.0	267.0	267.0					1																	248308860		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308860A>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.411A>C	1.37:g.248308860A>C	ENSP00000355432:p.Arg137Ser						p.R137S	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	411	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		137			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.411A>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	a	0.017	-1.507093	0.00992	.	.	ENSG00000162727	ENST00000366476	T	0.34072	1.38	2.9	-5.8	0.02347	GPCR, rhodopsin-like superfamily (1);	0.856574	0.09546	N	0.787603	T	0.07052	0.0179	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39165	-0.9627	10	0.02654	T	1	.	8.6747	0.34172	0.2013:0.6927:0.0:0.106	.	137	A3KFT3	OR2M5_HUMAN	S	137	ENSP00000355432:R137S	ENSP00000355432:R137S	R	+	3	2	OR2M5	246375483	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.681000	0.05191	-0.965000	0.03591	-0.526000	0.04340	AGA		PASS	0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		69	374	69	374	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616135	248616135	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr1:248616135T>G	ENST00000342927.3	+	1	59	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCCACTAACTTCGTCCTCAC	0.502																																						uc001iek.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(37-39)TTC>GTC		olfactory receptor, family 2, subfamily T,							60.0	73.0	69.0					1																	248616135		2168	4257	6425	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616135T>G	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.37T>G	1.37:g.248616135T>G	ENSP00000343062:p.Phe13Val						p.F13V	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	37	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		13			Extracellular (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.37T>G	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	t	11.21	1.571655	0.28003	.	.	ENSG00000196240	ENST00000342927	T	0.12039	2.72	3.2	3.2	0.36748	.	0.000000	0.49916	D	0.000128	T	0.42131	0.1189	M	0.91768	3.24	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.32877	-0.9890	10	0.87932	D	0	.	10.611	0.45421	0.0:0.0:0.0:1.0	.	13	Q6IF00	OR2T2_HUMAN	V	13	ENSP00000343062:F13V	ENSP00000343062:F13V	F	+	1	0	OR2T2	246682758	0.453000	0.25721	0.059000	0.19551	0.121000	0.20230	1.033000	0.30191	1.325000	0.45301	0.248000	0.18094	TTC		PASS	0.502	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		8	119	8	119	---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45616517	45616517	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:45616517C>T	ENST00000263736.4	-	21	2982	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	SRBD1_ENST00000535761.1_Missense_Mutation_p.E493K|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	974	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.E974K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTTGGACTTCCACTCTTTCT	0.463																																						uc002rus.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2920-2922)GAA>AAA		S1 RNA binding domain 1							99.0	99.0	99.0					2																	45616517		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45616517C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2920G>A	2.37:g.45616517C>T	ENSP00000263736:p.Glu974Lys					SRBD1_uc010yoc.1_Missense_Mutation_p.E493K	p.E974K	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		21	2996	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	974			S1 motif.		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2920G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396766	0.83120	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.42131	0.98;0.98	3.99	3.99	0.46301	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.11927	0.2	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.11494	-1.0585	10	0.06625	T	0.88	.	17.383	0.87409	0.0:1.0:0.0:0.0	.	974	Q8N5C6	SRBD1_HUMAN	K	974;493	ENSP00000263736:E974K;ENSP00000441272:E493K	ENSP00000263736:E974K	E	-	1	0	SRBD1	45470021	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.121000	0.77160	2.517000	0.84864	0.563000	0.77884	GAA		PASS	0.463	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		32	88	32	88	---	---	---	---
CNNM4	26504	broad.mit.edu	37	2	97464819	97464819	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:97464819G>A	ENST00000377075.2	+	4	1805	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	CNNM4_ENST00000540067.1_Silent_p.L56L|CNNM4_ENST00000496186.1_3'UTR|MIR3127_ENST00000583925.1_RNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	569					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.L569L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GCCCCTCCCTGATATCAGAGA	0.537																																						uc002swx.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(1705-1707)CTG>CTA		cyclin M4							80.0	77.0	78.0					2																	97464819		2203	4300	6503	SO:0001819	synonymous_variant	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464819G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1707G>A	2.37:g.97464819G>A						CNNM4_uc010yuy.1_Silent_p.L56L	p.L569L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			4	1805	+			569					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	ENST00000377075.2	37	c.1707G>A	CCDS2024.2																																																																																				PASS	0.537	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		25	52	25	52	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158114721	158114721	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:158114721C>T	ENST00000259056.4	+	1	612	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	43					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R43W(1)|p.R43M(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GATCAACACTCGGGTCATCAA	0.468																																						uc002tzg.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|skin(1)	4						c.(127-129)CGG>TGG		N-acetylgalactosaminyltransferase 5							122.0	127.0	125.0					2																	158114721		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158114721C>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.127C>T	2.37:g.158114721C>T	ENSP00000259056:p.Arg43Trp					GALNT5_uc010zci.1_RNA	p.R43W	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	382	+			43			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.127C>T	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145770	0.57044	.	.	ENSG00000136542	ENST00000259056	T	0.59083	0.29	5.14	1.58	0.23477	.	1.285220	0.05561	N	0.569286	T	0.54581	0.1867	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.50791	0.65	T	0.50608	-0.8808	10	0.87932	D	0	.	9.1918	0.37204	0.3627:0.5127:0.1246:0.0	.	43	Q7Z7M9	GALT5_HUMAN	W	43	ENSP00000259056:R43W	ENSP00000259056:R43W	R	+	1	2	GALNT5	157822967	0.002000	0.14202	0.492000	0.27490	0.981000	0.71138	0.092000	0.15066	0.572000	0.29383	0.655000	0.94253	CGG		PASS	0.468	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		53	182	53	182	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167298201	167298201	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:167298201C>T	ENST00000409855.1	-	14	1988	c.1862G>A	c.(1861-1863)aGt>aAt	p.S621N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	621					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S621N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCATGAGTTACTAAGAGACCA	0.373																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1861-1863)AGT>AAT		sodium channel, voltage-gated, type VII, alpha							111.0	111.0	111.0					2																	167298201		2082	4255	6337	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298201C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1862G>A	2.37:g.167298201C>T	ENSP00000386796:p.Ser621Asn					SCN7A_uc010fpm.1_RNA	p.S621N	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			14	1989	-			621						Missense_Mutation	SNP	ENST00000409855.1	37	c.1862G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729423	0.30684	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98437	-4.93;-4.93	4.78	-1.71	0.08133	Ion transport (1);	1.381550	0.04329	N	0.351991	D	0.94049	0.8093	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.86120	0.1568	10	0.59425	D	0.04	.	1.4545	0.02382	0.1471:0.4076:0.1253:0.32	.	621	Q01118	SCN7A_HUMAN	N	621	ENSP00000386796:S621N;ENSP00000413699:S621N	ENSP00000259060:S621N	S	-	2	0	SCN7A	167006447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.013000	0.13310	-0.476000	0.06842	-0.291000	0.09656	AGT		PASS	0.373	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			32	80	32	80	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179428793	179428793	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:179428793C>A	ENST00000591111.1	-	276	77367	c.77143G>T	c.(77143-77145)Ggt>Tgt	p.G25715C	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18416C|TTN_ENST00000460472.2_Missense_Mutation_p.G18291C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G18483C|TTN_ENST00000589042.1_Missense_Mutation_p.G27356C|TTN_ENST00000342992.6_Missense_Mutation_p.G24788C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25715	Ig-like 125.				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.G18291C(1)|p.G18483C(1)|p.G24788C(1)|p.G18416C(1)|p.G24786C(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)			GACTTTGTACCACCAACATTG	0.408																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74362-74364)GGT>TGT		titin isoform N2-A							142.0	139.0	140.0					2																	179428793		1860	4114	5974	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428793C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77143G>T	2.37:g.179428793C>A	ENSP00000465570:p.Gly25715Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G18483C|TTN_uc010zfi.1_Missense_Mutation_p.G18416C|TTN_uc010zfj.1_Missense_Mutation_p.G18291C	p.G24788C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	74586	-			25715					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.74362G>T		.	.	.	.	.	.	.	.	.	.	C	14.27	2.486480	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92044	0.7479	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93786	0.7088	9	0.87932	D	0	.	20.6452	0.99591	0.0:1.0:0.0:0.0	.	18291;18416;18483;25715	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	24788;18291;18483;18416;18289	ENSP00000343764:G24788C;ENSP00000434586:G18291C;ENSP00000340554:G18483C;ENSP00000352154:G18416C	ENSP00000340554:G18483C	G	-	1	0	TTN	179137039	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.818000	0.86416	2.885000	0.99019	0.650000	0.86243	GGT		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	161	66	161	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179569463	179569463	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:179569463C>G	ENST00000591111.1	-	103	29009	c.28785G>C	c.(28783-28785)ttG>ttC	p.L9595F	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L9912F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L8668F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13679					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.L8668F(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)			CATTATCTTTCAAAACTGTCT	0.323																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(26002-26004)TTG>TTC		titin isoform N2-A							40.0	37.0	38.0					2																	179569463		1811	4067	5878	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569463C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28785G>C	2.37:g.179569463C>G	ENSP00000465570:p.Leu9595Phe					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L5329F	p.L8668F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	26228	-			9595					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.26004G>C		.	.	.	.	.	.	.	.	.	.	C	11.25	1.583938	0.28268	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	6.06	3.28	0.37604	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52948	0.1766	L	0.31207	0.915	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.52071	-0.8624	9	0.87932	D	0	.	9.6568	0.39930	0.0:0.6778:0.0:0.3222	.	9595	Q8WZ42	TITIN_HUMAN	F	8668	ENSP00000343764:L8668F	ENSP00000343764:L8668F	L	-	3	2	TTN	179277708	0.886000	0.30341	1.000000	0.80357	0.996000	0.88848	0.028000	0.13644	0.895000	0.36342	0.655000	0.94253	TTG		PASS	0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	40	6	40	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189855088	189855088	+	Splice_Site	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:189855088T>G	ENST00000304636.3	+	10	968		c.e10+2		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.?(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGACACAGAGTAAGTAGAGTT	0.348																																						uc002uqj.1																			1	Unknown(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.e10+2		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						90.0	96.0	94.0					2																	189855088		2202	4300	6502	SO:0001630	splice_region_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189855088T>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.798+2T>G	2.37:g.189855088T>G						COL3A1_uc010frw.1_5'Flank	p.R266_splice	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		10	915	+								D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	ENST00000304636.3	37	c.798_splice	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663250	0.88251	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189563333	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.673000	0.83973	2.289000	0.77006	0.482000	0.46254	.		PASS	0.348	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	Intron	14	65	14	65	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225717814	225717814	+	Silent	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr2:225717814A>G	ENST00000258390.7	-	17	1981	c.1914T>C	c.(1912-1914)ccT>ccC	p.P638P	DOCK10_ENST00000409592.3_Silent_p.P632P	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	638					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P638P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGGCTTGACAGGGATAAAGG	0.333																																						uc010fwz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1912-1914)CCT>CCC		dedicator of cytokinesis 10							89.0	82.0	84.0					2																	225717814		1834	4085	5919	SO:0001819	synonymous_variant	55619						GTP binding	g.chr2:225717814A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1914T>C	2.37:g.225717814A>G						DOCK10_uc002vob.2_Silent_p.P632P	p.P638P	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	17	2153	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	638					B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.1914T>C	CCDS46528.1																																																																																				PASS	0.333	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	95	3	95	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7620793	7620793	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:7620793G>C	ENST00000357716.4	+	8	2474	c.2200G>C	c.(2200-2202)Gaa>Caa	p.E734Q	GRM7_ENST00000402647.2_Missense_Mutation_p.E734Q|GRM7_ENST00000389336.4_Missense_Mutation_p.E734Q|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Missense_Mutation_p.E734Q|GRM7_ENST00000403881.1_Missense_Mutation_p.E734Q	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	734					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.E734Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGACTATGATGAACACAAGAC	0.418																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(2200-2202)GAA>CAA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						129.0	112.0	118.0					3																	7620793		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620793G>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2200G>C	3.37:g.7620793G>C	ENSP00000350348:p.Glu734Gln					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E734Q|GRM7_uc003bql.2_Missense_Mutation_p.E734Q|GRM7_uc003bqn.1_Missense_Mutation_p.E317Q|GRM7_uc010hch.1_Missense_Mutation_p.E245Q	p.E734Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2474	+			734			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2200G>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578997	0.46006	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	L	0.59436	1.845	0.51482	D	0.99992	P;B;D;B;P	0.62365	0.87;0.019;0.991;0.024;0.521	P;B;D;B;P	0.76575	0.753;0.032;0.988;0.054;0.508	D	0.88577	0.3134	10	0.27082	T	0.32	.	14.9828	0.71324	0.0:0.1422:0.8578:0.0	.	734;734;489;734;734	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	Q	734	ENSP00000350348:E734Q;ENSP00000417536:E734Q;ENSP00000373987:E734Q;ENSP00000385664:E734Q;ENSP00000384585:E734Q	ENSP00000350348:E734Q	E	+	1	0	GRM7	7595793	1.000000	0.71417	0.996000	0.52242	0.255000	0.26057	7.884000	0.87274	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.418	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		30	49	30	49	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228401	39228401	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:39228401G>A	ENST00000340369.3	-	2	2764	c.2536C>T	c.(2536-2538)Ctg>Ttg	p.L846L	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.L846L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	846					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.L846L(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTGCACCAGCAGCCCCTGC	0.592																																						uc003cjk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2536-2538)CTG>TTG		xin actin-binding repeat containing 1							39.0	38.0	38.0					3																	39228401		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39228401G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2536C>T	3.37:g.39228401G>A						XIRP1_uc003cji.2_Silent_p.L846L|XIRP1_uc003cjj.2_Intron	p.L846L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2757	-			846					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.2536C>T	CCDS2683.1																																																																																				PASS	0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		16	26	16	26	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53684870	53684870	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:53684870A>G	ENST00000350061.5	+	4	1059	c.548A>G	c.(547-549)tAt>tGt	p.Y183C	CACNA1D_ENST00000288139.4_Missense_Mutation_p.Y183C|CACNA1D_ENST00000422281.2_Missense_Mutation_p.Y183C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Y183C(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTATAGCGTATGGATTATTG	0.318																																						uc003dgv.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(547-549)TAT>TGT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						165.0	166.0	166.0					3																	53684870		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53684870A>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.548A>G	3.37:g.53684870A>G	ENSP00000288133:p.Tyr183Cys					CACNA1D_uc003dgu.3_Missense_Mutation_p.Y183C|CACNA1D_uc003dgy.3_Missense_Mutation_p.Y183C	p.Y183C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	711	+			183			I.|Helical; Name=S2 of repeat I; (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.548A>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.064912	0.76187	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.97430	-4.38;-4.38;-4.38	5.06	5.06	0.68205	Ion transport (1);	0.175767	0.38492	N	0.001680	D	0.98732	0.9574	M	0.93062	3.375	0.80722	D	1	D;P;D	0.89917	0.983;0.873;1.0	D;P;D	0.91635	0.953;0.806;0.999	D	0.99777	1.1026	10	0.87932	D	0	.	15.0208	0.71630	1.0:0.0:0.0:0.0	.	183;183;183	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	C	183	ENSP00000288133:Y183C;ENSP00000288139:Y183C;ENSP00000409174:Y183C	ENSP00000288139:Y183C	Y	+	2	0	CACNA1D	53659910	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	9.130000	0.94437	2.139000	0.66308	0.358000	0.22013	TAT		PASS	0.318	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		41	79	41	79	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105572277	105572277	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:105572277C>T	ENST00000264122.4	-	3	721	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CBLB_ENST00000545639.1_Missense_Mutation_p.E156K|CBLB_ENST00000403724.1_Missense_Mutation_p.E134K|CBLB_ENST00000394027.3_Missense_Mutation_p.E156K|CBLB_ENST00000405772.1_Missense_Mutation_p.E134K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	134	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E134K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GACTGTTCTTCATACATTCTC	0.338			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(400-402)GAA>AAA		Cas-Br-M (murine) ecotropic retroviral							242.0	244.0	243.0					3																	105572277		2202	4300	6502	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105572277C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.400G>A	3.37:g.105572277C>T	ENSP00000264122:p.Glu134Lys					CBLB_uc011bhi.1_Missense_Mutation_p.E156K|CBLB_uc003dwd.1_Missense_Mutation_p.E134K|CBLB_uc003dwe.1_Missense_Mutation_p.E134K|CBLB_uc011bhj.1_RNA	p.E134K	NM_170662	NP_733762	Q13191	CBLB_HUMAN			3	722	-			134			Cbl-PTB.|4H.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.400G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179701	0.94846	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.69	5.69	0.88448	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.85991	0.5826	L	0.50333	1.59	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.993	D;D;P	0.72338	0.977;0.961;0.902	D	0.86563	0.1842	10	0.87932	D	0	-24.0934	19.8034	0.96518	0.0:1.0:0.0:0.0	.	156;134;134	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	K	134;156;134;134;156;156;134;134	ENSP00000264122:E134K;ENSP00000377595:E156K;ENSP00000384816:E134K;ENSP00000384938:E134K;ENSP00000446116:E156K;ENSP00000409750:E156K;ENSP00000400949:E134K;ENSP00000393906:E134K	ENSP00000264122:E134K	E	-	1	0	CBLB	107054967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.603000	0.82811	2.669000	0.90835	0.655000	0.94253	GAA		PASS	0.338	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		81	213	81	213	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119121048	119121048	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:119121048G>A	ENST00000264245.4	+	10	1981	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.A483A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCGCAAGGCGCTGAACATCT	0.602																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1447-1449)GCG>GCA		Cdc42 GTPase-activating protein							67.0	75.0	73.0					3																	119121048		2079	4220	6299	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121048G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1449G>A	3.37:g.119121048G>A							p.A483A	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			10	1981	+			483					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1449G>A	CCDS43135.1																																																																																				PASS	0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			22	147	22	147	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122287849	122287849	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:122287849C>T	ENST00000296161.4	+	3	1102	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	305					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L305L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CACAGAACCTCTGAAGCAAGA	0.403																																						uc003efk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(913-915)CTG>TTG		deltex 3-like							56.0	60.0	59.0					3																	122287849		2203	4300	6503	SO:0001819	synonymous_variant	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287849C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.913C>T	3.37:g.122287849C>T						DTX3L_uc010hrj.2_Intron	p.L305L	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	1002	+			305					B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	ENST00000296161.4	37	c.913C>T	CCDS3015.1																																																																																				PASS	0.403	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		19	121	19	121	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535632	141535632	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:141535632G>A	ENST00000264952.2	+	4	1539	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	468	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.E468K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGCCTAATTGAACCCCCATT	0.443																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1402-1404)GAA>AAA		G-protein-coupled receptor kinase 7 precursor							128.0	128.0	128.0					3																	141535632		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535632G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1402G>A	3.37:g.141535632G>A	ENSP00000264952:p.Glu468Lys						p.E468K	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			4	1486	+			468			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1402G>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	9.288	1.049835	0.19827	.	.	ENSG00000114124	ENST00000264952	T	0.24350	1.86	5.22	4.35	0.52113	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.165964	0.51477	D	0.000097	T	0.21427	0.0516	L	0.43598	1.365	0.38916	D	0.957647	B	0.32245	0.361	B	0.28139	0.086	T	0.05273	-1.0895	10	0.24483	T	0.36	-5.6682	13.9829	0.64315	0.0735:0.0:0.9265:0.0	.	468	Q8WTQ7	GRK7_HUMAN	K	468	ENSP00000264952:E468K	ENSP00000264952:E468K	E	+	1	0	GRK7	143018322	1.000000	0.71417	0.026000	0.17262	0.200000	0.23975	5.486000	0.66856	1.202000	0.43218	-0.444000	0.05651	GAA		PASS	0.443	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		45	176	45	176	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535701	141535701	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:141535701G>C	ENST00000264952.2	+	4	1608	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	491	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.E491Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGATTTCTCTGAGGTTCGGGG	0.448																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1471-1473)GAG>CAG		G-protein-coupled receptor kinase 7 precursor							146.0	144.0	145.0					3																	141535701		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535701G>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1471G>C	3.37:g.141535701G>C	ENSP00000264952:p.Glu491Gln						p.E491Q	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			4	1555	+			491			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1471G>C	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389435	0.82902	.	.	ENSG00000114124	ENST00000264952	T	0.25085	1.82	5.22	4.33	0.51752	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.69823	2.125	0.54753	D	0.999987	D	0.71674	0.998	P	0.59761	0.863	T	0.48714	-0.9011	10	0.62326	D	0.03	-21.2689	14.1303	0.65250	0.0736:0.0:0.9264:0.0	.	491	Q8WTQ7	GRK7_HUMAN	Q	491	ENSP00000264952:E491Q	ENSP00000264952:E491Q	E	+	1	0	GRK7	143018391	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.640000	0.74319	1.168000	0.42723	0.467000	0.42956	GAG		PASS	0.448	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		69	231	69	231	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114108	147114108	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:147114108C>T	ENST00000383075.3	-	3	731	c.219G>A	c.(217-219)gcG>gcA	p.A73A	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.A123A|ZIC4_ENST00000473123.1_Silent_p.A73A|ZIC4_ENST00000484399.1_Silent_p.A73A|ZIC4_ENST00000425731.3_Silent_p.A111A	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	73						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A73A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTCCGGCCGCGCGTACATGT	0.716																																						uc003ewd.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(217-219)GCG>GCA		zinc finger protein of the cerebellum 4							9.0	13.0	12.0					3																	147114108		1881	4065	5946	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114108C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.219G>A	3.37:g.147114108C>T						ZIC4_uc003ewc.1_Silent_p.A3A|ZIC4_uc011bno.1_Silent_p.A123A	p.A73A	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	492	-			73					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.219G>A	CCDS43160.1																																																																																				PASS	0.716	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	15	4	15	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183907053	183907053	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:183907053C>T	ENST00000429586.2	+	11	1230	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.L343L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	349	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L349L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCAGATCTTCTGCTGTTAGA	0.483																																						uc003fmz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1045-1047)CTG>TTG		ATP-binding cassette, sub-family F (GCN20),							101.0	94.0	96.0					3																	183907053		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183907053C>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1045C>T	3.37:g.183907053C>T						ABCF3_uc003fna.2_Silent_p.L343L|ABCF3_uc003fnb.2_Silent_p.L30L	p.L349L	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1178	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		349			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.1045C>T	CCDS3254.1																																																																																				PASS	0.483	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		21	103	21	103	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184038429	184038429	+	Silent	SNP	A	A	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr3:184038429A>T	ENST00000346169.2	+	8	820	c.549A>T	c.(547-549)cgA>cgT	p.R183R	EIF4G1_ENST00000435046.2_5'Flank|EIF4G1_ENST00000342981.4_Silent_p.R183R|EIF4G1_ENST00000352767.3_Silent_p.R190R|EIF4G1_ENST00000350481.5_Silent_p.R19R|EIF4G1_ENST00000434061.2_5'UTR|EIF4G1_ENST00000441154.1_Silent_p.R19R|EIF4G1_ENST00000382330.3_Silent_p.R190R|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Silent_p.R190R|EIF4G1_ENST00000392537.2_Silent_p.R96R|EIF4G1_ENST00000414031.1_Silent_p.R143R|EIF4G1_ENST00000319274.6_Silent_p.R183R|EIF4G1_ENST00000411531.1_Silent_p.R143R|EIF4G1_ENST00000427845.1_Silent_p.R96R	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	183	PABPC1-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.R183R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCGAATTCGAGATCCAAACC	0.552																																						uc003fnp.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(547-549)CGA>CGT		eukaryotic translation initiation factor 4							92.0	85.0	87.0					3																	184038429		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184038429A>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.549A>T	3.37:g.184038429A>T						EIF4G1_uc003fno.1_Silent_p.R124R|EIF4G1_uc010hxw.1_Silent_p.R19R|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Silent_p.R96R|EIF4G1_uc003fnr.2_Silent_p.R19R|EIF4G1_uc010hxx.2_Silent_p.R190R|EIF4G1_uc003fns.2_Silent_p.R143R|EIF4G1_uc010hxy.2_Silent_p.R190R|EIF4G1_uc010hxz.1_Silent_p.R96R|EIF4G1_uc003fnv.3_Silent_p.R183R|EIF4G1_uc003fnu.3_Silent_p.R183R|EIF4G1_uc003fnw.2_Silent_p.R190R|EIF4G1_uc003fnx.2_5'UTR|EIF4G1_uc003fny.3_5'UTR	p.R183R	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	747	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		183			PABPC1-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.549A>T	CCDS3259.1																																																																																				PASS	0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		33	147	33	147	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3133031	3133031	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr4:3133031G>T	ENST00000355072.5	+	15	2150	c.2005G>T	c.(2005-2007)Gac>Tac	p.D669Y		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	669					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D669Y(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATCAAAGGTGACATTGGACA	0.423																																						uc011bvq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2011-2013)GAC>TAC		huntingtin							119.0	116.0	117.0					4																	3133031		2032	4198	6230	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3133031G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2005G>T	4.37:g.3133031G>T	ENSP00000347184:p.Asp669Tyr						p.D671Y	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	16	2156	+		all_epithelial(65;0.18)	669					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2011G>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467662	0.63625	.	.	ENSG00000197386	ENST00000355072	T	0.09163	3.01	5.07	4.22	0.49857	Armadillo-type fold (1);	0.221253	0.44097	D	0.000491	T	0.29223	0.0727	M	0.74258	2.255	0.48185	D	0.999604	D	0.67145	0.996	P	0.61201	0.885	T	0.05649	-1.0872	10	0.72032	D	0.01	.	13.5219	0.61572	0.0:0.1567:0.8433:0.0	.	669	P42858	HD_HUMAN	Y	669	ENSP00000347184:D669Y	ENSP00000347184:D669Y	D	+	1	0	HTT	3102829	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.115000	0.64655	1.338000	0.45544	0.655000	0.94253	GAC		PASS	0.423	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		3	52	3	52	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55955889	55955889	+	Silent	SNP	A	A	G	rs150647161		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr4:55955889A>G	ENST00000263923.4	-	24	3568	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1091	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F1091F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAAAACACCAAAAGACCAGA	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		16748	0.0		0.0	False		,,,				2504	0.0					uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - coding silent(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3271-3273)TTT>TTC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)	A		1,4405	2.1+/-5.4	0,1,2202	142.0	153.0	149.0		3273	-5.3	0.9	4	dbSNP_134	149	0,8600		0,0,4300	no	coding-synonymous	KDR	NM_002253.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		1091/1357	55955889	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955889A>G	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3273T>C	4.37:g.55955889A>G		TSP Lung(20;0.16)				KDR_uc003hat.1_Silent_p.F1091F	p.F1091F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		24	3575	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1091			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.3273T>C	CCDS3497.1																																																																																				PASS	0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			67	109	67	109	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79437159	79437159	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr4:79437159G>A	ENST00000264895.6	+	66	10821	c.10381G>A	c.(10381-10383)Gac>Aac	p.D3461N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3457					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.D3461N(1)|p.D3462N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTAACCGCTGACTTCCAGGT	0.512																																						uc003hlb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(5)	5						c.(10381-10383)GAC>AAC		Fraser syndrome 1							63.0	67.0	66.0					4																	79437159		2135	4262	6397	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79437159G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10381G>A	4.37:g.79437159G>A	ENSP00000264895:p.Asp3461Asn						p.D3461N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			66	10821	+			3456			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.10381G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464882	0.84425	.	.	ENSG00000138759	ENST00000264895	T	0.17854	2.25	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09250	-1.0683	10	0.87932	D	0	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	3461	E9PHH6	.	N	3461	ENSP00000264895:D3461N	ENSP00000264895:D3461N	D	+	1	0	FRAS1	79656183	1.000000	0.71417	0.969000	0.41365	0.187000	0.23431	9.334000	0.96470	2.835000	0.97688	0.591000	0.81541	GAC		PASS	0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	8	8	8	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146807209	146807209	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr4:146807209C>A	ENST00000508784.1	-	4	1595	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q456H|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q106H			Q17R98	ZN827_HUMAN	zinc finger protein 827	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q456H(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCAGGAAGTGCTGATGGCAAC	0.562																																						uc003ikn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1366-1368)CAG>CAT		zinc finger protein 827							103.0	91.0	95.0					4																	146807209		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807209C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1368G>T	4.37:g.146807209C>A	ENSP00000421863:p.Gln456His					ZNF827_uc003ikm.2_Missense_Mutation_p.Q456H|ZNF827_uc010iox.2_Missense_Mutation_p.Q106H	p.Q456H	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			4	1416	-	all_hematologic(180;0.151)		456					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1368G>T		.	.	.	.	.	.	.	.	.	.	C	18.80	3.700136	0.68501	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.27402	1.67;1.67;1.67	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	N	0.11364	0.135	0.50171	D	0.99985	D;D;D	0.67145	0.994;0.996;0.994	D;D;D	0.81914	0.991;0.995;0.991	T	0.34750	-0.9816	10	0.72032	D	0.01	-19.4702	12.0796	0.53663	0.0:0.8756:0.0:0.1244	.	106;456;456	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	H	456;106;456;455;106	ENSP00000421863:Q456H;ENSP00000423130:Q106H;ENSP00000368761:Q456H	ENSP00000281318:Q455H	Q	-	3	2	ZNF827	147026659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.787000	0.55439	2.540000	0.85666	0.561000	0.74099	CAG		PASS	0.562	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		9	47	9	47	---	---	---	---
C7	730	broad.mit.edu	37	5	40981503	40981503	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:40981503G>T	ENST00000313164.9	+	18	2719	c.2360G>T	c.(2359-2361)aGc>aTc	p.S787I		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	787	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S787I(1)					Ovarian(839;0.0112)				GCTGAGAGCAGCAAATGTGTC	0.488																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2359-2361)AGC>ATC		complement component 7 precursor							50.0	50.0	50.0					5																	40981503		2045	4190	6235	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981503G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2360G>T	5.37:g.40981503G>T	ENSP00000322061:p.Ser787Ile						p.S787I	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2474	+		Ovarian(839;0.0112)	787			Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2360G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077744	0.55753	.	.	ENSG00000112936	ENST00000313164	T	0.64991	-0.13	5.83	-0.986	0.10252	Factor I / membrane attack complex (1);	0.788201	0.12263	N	0.484536	T	0.58921	0.2156	M	0.71581	2.175	0.09310	N	1	P	0.34724	0.465	B	0.35039	0.194	T	0.55541	-0.8125	10	0.72032	D	0.01	-3.428	11.0469	0.47863	0.6344:0.0:0.3656:0.0	.	787	P10643	CO7_HUMAN	I	787	ENSP00000322061:S787I	ENSP00000322061:S787I	S	+	2	0	C7	41017260	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	0.846000	0.27682	-0.111000	0.12001	-0.253000	0.11424	AGC		PASS	0.488	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	35	4	35	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	40998193	40998193	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:40998193G>A	ENST00000399564.4	-	42	5169	c.4719C>T	c.(4717-4719)acC>acT	p.T1573T	MROH2B_ENST00000506092.2_Silent_p.T1128T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1573								p.T1573T(1)									TTCTCAGGAGGGTTTGCAAAG	0.448																																						uc003jmj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(4717-4719)ACC>ACT		HEAT repeat family member 7B2							190.0	180.0	183.0					5																	40998193		1911	4136	6047	SO:0001819	synonymous_variant	133558						binding	g.chr5:40998193G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4719C>T	5.37:g.40998193G>A						HEATR7B2_uc003jmi.3_Silent_p.T1128T	p.T1573T	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			42	5209	-			1573					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.4719C>T	CCDS47202.1																																																																																				PASS	0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		257	181	257	181	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50128660	50128660	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:50128660C>T	ENST00000281631.5	+	23	2437	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	PARP8_ENST00000514342.2_Missense_Mutation_p.S471L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S718L|PARP8_ENST00000505554.1_Missense_Mutation_p.S739L|PARP8_ENST00000503750.2_Missense_Mutation_p.S718L|PARP8_ENST00000505697.2_Missense_Mutation_p.S760L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	760	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S760L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAGCCAGCTTCAAGCAGTAAA	0.438																																						uc003jon.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(2278-2280)TCA>TTA		poly (ADP-ribose) polymerase family, member 8							158.0	133.0	142.0					5																	50128660		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50128660C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2279C>T	5.37:g.50128660C>T	ENSP00000281631:p.Ser760Leu					PARP8_uc011cpz.1_Missense_Mutation_p.S652L|PARP8_uc003joo.2_Missense_Mutation_p.S760L|PARP8_uc003jop.2_Missense_Mutation_p.S718L	p.S760L	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			24	2461	+		Lung NSC(810;0.0305)|Breast(144;0.222)	760			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2279C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114574	0.77210	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.7	5.7	0.88788	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.075915	0.56097	D	0.000039	T	0.60222	0.2252	N	0.12182	0.205	0.52501	D	0.999959	B;D;B	0.57899	0.44;0.981;0.297	B;D;B	0.66351	0.187;0.943;0.187	T	0.59478	-0.7447	8	.	.	.	-10.4658	19.8219	0.96602	0.0:1.0:0.0:0.0	.	652;718;760	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	760;718;471;760;718;739;471;471	.	.	S	+	2	0	PARP8	50164417	0.999000	0.42202	0.865000	0.33974	0.994000	0.84299	5.304000	0.65744	2.696000	0.92011	0.650000	0.86243	TCA		PASS	0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		19	40	19	40	---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79752839	79752839	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:79752839C>T	ENST00000338008.5	+	13	4051	c.3871C>T	c.(3871-3873)Cat>Tat	p.H1291Y	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.H1291Y|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.H1291Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1291					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.H1291Y(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGCAGATTCTCATCTAGTCTG	0.383																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3871-3873)CAT>TAT		zinc finger, FYVE domain containing 16							87.0	83.0	85.0					5																	79752839		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79752839C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3871C>T	5.37:g.79752839C>T	ENSP00000337159:p.His1291Tyr					ZFYVE16_uc003kgq.3_Missense_Mutation_p.H1291Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.H1291Y|ZFYVE16_uc003kgt.3_Missense_Mutation_p.H379Y|ZFYVE16_uc003kgu.3_Missense_Mutation_p.H43Y	p.H1291Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	14	4173	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1291					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.3871C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008228	0.93346	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.48522	0.81;0.81;0.81	5.76	5.76	0.90799	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000015	T	0.68329	0.2989	M	0.66378	2.025	0.80722	D	1	P;D	0.76494	0.835;0.999	P;D	0.74348	0.491;0.983	T	0.65894	-0.6057	10	0.44086	T	0.13	-9.8522	19.5579	0.95358	0.0:1.0:0.0:0.0	.	101;1291	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	Y	1291	ENSP00000337159:H1291Y;ENSP00000423663:H1291Y;ENSP00000426848:H1291Y	ENSP00000337159:H1291Y	H	+	1	0	ZFYVE16	79788595	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.615000	0.83006	2.695000	0.91970	0.563000	0.77884	CAT		PASS	0.383	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		38	51	38	51	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90449047	90449047	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:90449047G>A	ENST00000405460.2	+	89	18730	c.18634G>A	c.(18634-18636)Gac>Aac	p.D6212N	GPR98_ENST00000425867.2_Missense_Mutation_p.D1873N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6212					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D6212N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCCACCTGACTGGGAGAG	0.478																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18634-18636)GAC>AAC		G protein-coupled receptor 98 precursor							39.0	37.0	38.0					5																	90449047		1904	4128	6032	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90449047G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18634G>A	5.37:g.90449047G>A	ENSP00000384582:p.Asp6212Asn					GPR98_uc003kjt.2_Missense_Mutation_p.D3918N|GPR98_uc003kjw.2_Missense_Mutation_p.D1873N|GPR98_uc003kjx.2_Missense_Mutation_p.D240N	p.D6212N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	89	18730	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6212			Cytoplasmic (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18634G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148764	0.78001	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.37752	1.2;1.18	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.69654	0.965;0.914;0.961	T	0.46938	-0.9155	9	.	.	.	.	17.5785	0.87958	0.0:0.0:1.0:0.0	.	1873;6212;1873	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	6212;6212;1873	ENSP00000384582:D6212N;ENSP00000392618:D1873N	.	D	+	1	0	GPR98	90484803	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.888000	0.92464	2.817000	0.96982	0.563000	0.77884	GAC		PASS	0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		7	10	7	10	---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94022307	94022307	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:94022307A>G	ENST00000265140.5	+	16	2424	c.2005A>G	c.(2005-2007)Att>Gtt	p.I669V		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	669						centrosome (GO:0005813)|nucleus (GO:0005634)		p.I669V(1)|p.I33V(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AGAGATTTTCATTTGCTCCTT	0.378																																						uc003kkr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2005-2007)ATT>GTT		ankyrin repeat domain 32							178.0	178.0	178.0					5																	94022307		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94022307A>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2005A>G	5.37:g.94022307A>G	ENSP00000265140:p.Ile669Val					ANKRD32_uc003kks.2_Missense_Mutation_p.I33V	p.I669V	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2085	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	669					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2005A>G	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657015	0.29425	.	.	ENSG00000133302	ENST00000265140	T	0.43688	0.94	5.39	5.39	0.77823	.	0.084411	0.56097	D	0.000031	T	0.33323	0.0859	L	0.50333	1.59	0.30024	N	0.814078	P	0.34864	0.473	B	0.26416	0.069	T	0.40887	-0.9539	10	0.40728	T	0.16	.	10.6007	0.45365	0.9237:0.0:0.0763:0.0	.	669	Q9BQI6	ANR32_HUMAN	V	669	ENSP00000265140:I669V	ENSP00000265140:I669V	I	+	1	0	ANKRD32	94048063	0.938000	0.31826	0.986000	0.45419	0.967000	0.64934	1.397000	0.34543	2.167000	0.68274	0.533000	0.62120	ATT		PASS	0.378	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		52	213	52	213	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140168014	140168014	+	Silent	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:140168014C>G	ENST00000504120.2	+	1	2139	c.2139C>G	c.(2137-2139)ctC>ctG	p.L713L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L713L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	713					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L713L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGCTCACACTGCTGC	0.682																																						uc003lhb.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(2137-2139)CTC>CTG		protocadherin alpha 1 isoform 1 precursor							61.0	56.0	58.0					5																	140168014		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140168014C>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2139C>G	5.37:g.140168014C>G						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.L713L	p.L713L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2139	+			713			Helical; (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2139C>G	CCDS54913.1																																																																																				PASS	0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	52	14	52	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604601	140604601	+	Silent	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:140604601G>C	ENST00000239449.4	+	1	1524	c.1524G>C	c.(1522-1524)gcG>gcC	p.A508A	PCDHB14_ENST00000515856.2_Silent_p.A355A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A508A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCAACGCGGACAATGGCC	0.657																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1522-1524)GCG>GCC		protocadherin beta 14 precursor							102.0	106.0	105.0					5																	140604601		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604601G>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1524G>C	5.37:g.140604601G>C						PCDHB14_uc011dal.1_Silent_p.A355A	p.A508A	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1524	+			508			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1524G>C	CCDS4256.1																																																																																				PASS	0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		20	126	20	126	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176003183	176003183	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:176003183C>T	ENST00000510636.1	+	12	1465	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	CDHR2_ENST00000506348.1_Silent_p.D397D|CDHR2_ENST00000261944.5_Silent_p.D397D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D397D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACGACCCGGACAAGGCAGGCG	0.672																																						uc003mem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1189-1191)GAC>GAT		protocadherin LKC precursor							41.0	35.0	37.0					5																	176003183		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003183C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1191C>T	5.37:g.176003183C>T						CDHR2_uc003men.1_Silent_p.D397D	p.D397D	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			12	1257	+			397			Extracellular (Potential).|Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1191C>T	CCDS34297.1																																																																																				PASS	0.672	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		13	56	13	56	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178392301	178392301	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr5:178392301C>A	ENST00000320129.3	+	5	1199	c.896C>A	c.(895-897)cCt>cAt	p.P299H	ZNF454_ENST00000519564.1_Missense_Mutation_p.P299H	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P299H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GGAGAGAAACCTTTTAAATGT	0.383																																						uc003mjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(895-897)CCT>CAT		zinc finger protein 454							46.0	51.0	50.0					5																	178392301		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392301C>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.896C>A	5.37:g.178392301C>A	ENSP00000326249:p.Pro299His					ZNF454_uc010jkz.1_Missense_Mutation_p.P299H	p.P299H	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1167	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	299					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.896C>A	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471523	0.43942	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.17528	2.27;2.27	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39210	N	0.001425	T	0.49150	0.1540	M	0.90595	3.13	0.45129	D	0.998149	D	0.89917	1.0	D	0.87578	0.998	T	0.60110	-0.7327	10	0.87932	D	0	-14.8109	14.9632	0.71171	0.0:1.0:0.0:0.0	.	299	Q8N9F8	ZN454_HUMAN	H	299	ENSP00000326249:P299H;ENSP00000430354:P299H	ENSP00000326249:P299H	P	+	2	0	ZNF454	178324907	0.997000	0.39634	1.000000	0.80357	0.099000	0.18886	7.441000	0.80485	2.462000	0.83206	0.650000	0.86243	CCT		PASS	0.383	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		31	50	31	50	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7571678	7571678	+	Silent	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:7571678A>G	ENST00000379802.3	+	14	2105	c.1764A>G	c.(1762-1764)caA>caG	p.Q588Q	DSP_ENST00000418664.2_Silent_p.Q588Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	588	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q588Q(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACATTACCAAGAGTTCATCA	0.448																																						uc003mxp.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(1762-1764)CAA>CAG		desmoplakin isoform I							245.0	238.0	240.0					6																	7571678		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571678A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1764A>G	6.37:g.7571678A>G						DSP_uc003mxq.1_Silent_p.Q588Q	p.Q588Q	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2043	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	588			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1764A>G	CCDS4501.1																																																																																				PASS	0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		90	143	90	143	---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26156778	26156778	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:26156778C>T	ENST00000304218.3	+	1	220	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	54	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R54C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTCCAAGGAGCGCAGCGGCGT	0.607																																						uc003ngq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(160-162)CGC>TGC		histone cluster 1, H1e							25.0	29.0	28.0					6																	26156778		2203	4300	6503	SO:0001583	missense	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156778C>T	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.160C>T	6.37:g.26156778C>T	ENSP00000307705:p.Arg54Cys					HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.R54C	NM_005321	NP_005312	P10412	H14_HUMAN			1	220	+			54			H15.		Q4VB25	Missense_Mutation	SNP	ENST00000304218.3	37	c.160C>T	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.208800	0.79240	.	.	ENSG00000168298	ENST00000304218	T	0.34859	1.34	5.11	5.11	0.69529	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.114120	0.64402	D	0.000009	T	0.64249	0.2581	H	0.97023	3.925	0.80722	D	1	D	0.56968	0.978	P	0.57101	0.813	T	0.77525	-0.2555	10	0.62326	D	0.03	-2.7343	17.8759	0.88825	0.0:1.0:0.0:0.0	.	54	P10412	H14_HUMAN	C	54	ENSP00000307705:R54C	ENSP00000307705:R54C	R	+	1	0	HIST1H1E	26264757	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.727000	0.61993	2.542000	0.85734	0.561000	0.74099	CGC		PASS	0.607	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		6	35	6	35	---	---	---	---
HLA-G	3135	broad.mit.edu	37	6	29797255	29797255	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:29797255G>C	ENST00000360323.6	+	4	704	c.680G>C	c.(679-681)tGc>tCc	p.C227S	HLA-G_ENST00000428701.1_Missense_Mutation_p.C227S|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.C232S|HLA-G_ENST00000376818.3_Missense_Mutation_p.C135S			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	227	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C227S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCCTGAGGTGCTGGGCCCTG	0.592																																						uc003nnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(679-681)TGC>TCC		major histocompatibility complex, class I, G							90.0	94.0	92.0					6																	29797255		2203	4300	6503	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797255G>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.680G>C	6.37:g.29797255G>C	ENSP00000353472:p.Cys227Ser					HLA-G_uc011dmb.1_Missense_Mutation_p.C199S|HLA-G_uc003raj.3_Missense_Mutation_p.C232S|HLA-G_uc003nnz.3_Missense_Mutation_p.C135S|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_RNA|HLA-G_uc003ran.1_5'Flank	p.C227S	NM_002127	NP_002118	P17693	HLAG_HUMAN			5	858	+			227			Extracellular (Potential).|Ig-like C1-type.|Alpha-3.			Missense_Mutation	SNP	ENST00000360323.6	37	c.680G>C	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	13.75	2.329408	0.41197	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	D;D;D;T	0.93426	-3.22;-3.22;-3.22;0.1	1.72	1.72	0.24424	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.44097	U	0.000485	D	0.98036	0.9353	H	0.99988	5.29	0.31465	N	0.669133	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.953;0.998	D	0.93749	0.7057	10	0.87932	D	0	.	9.0484	0.36360	0.0:0.0:1.0:0.0	.	232;135;227	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	S	232;227;227;135	ENSP00000366024:C232S;ENSP00000412927:C227S;ENSP00000353472:C227S;ENSP00000366014:C135S	ENSP00000353472:C227S	C	+	2	0	HLA-G	29905234	1.000000	0.71417	0.991000	0.47740	0.645000	0.38454	4.332000	0.59279	0.952000	0.37798	0.298000	0.19748	TGC		PASS	0.592	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		11	184	11	184	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38743618	38743618	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:38743618G>T	ENST00000359357.3	+	11	1456	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	DNAH8_ENST00000449981.2_Missense_Mutation_p.R618I|DNAH8_ENST00000441566.1_Missense_Mutation_p.R401I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	401					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R401I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAAAATTCAGAAATATATAC	0.299																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1201-1203)AGA>ATA		dynein, axonemal, heavy polypeptide 8							61.0	72.0	68.0					6																	38743618		2197	4284	6481	SO:0001583	missense	1769							g.chr6:38743618G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1202G>T	6.37:g.38743618G>T	ENSP00000352312:p.Arg401Ile						p.R401I	NM_001371	NP_001362					11	1802	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1202G>T		.	.	.	.	.	.	.	.	.	.	G	12.65	2.001573	0.35320	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55930	0.49;0.49;0.49	5.93	4.79	0.61399	Dynein heavy chain, domain-1 (1);	0.236066	0.43416	D	0.000567	T	0.24509	0.0594	N	0.24115	0.695	0.41634	D	0.989037	B	0.12630	0.006	B	0.30495	0.116	T	0.10590	-1.0623	10	0.45353	T	0.12	.	9.7536	0.40490	0.9203:0.0:0.0797:0.0	.	401	Q96JB1	DYH8_HUMAN	I	606;606;401;401	ENSP00000333363:R606I;ENSP00000352312:R401I;ENSP00000402294:R401I	ENSP00000333363:R606I	R	+	2	0	DNAH8	38851596	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.478000	0.53158	1.090000	0.41315	-0.302000	0.09304	AGA		PASS	0.299	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		23	135	23	135	---	---	---	---
TAF8	129685	broad.mit.edu	37	6	42044885	42044885	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:42044885C>A	ENST00000372977.3	+	8	846	c.828C>A	c.(826-828)aaC>aaA	p.N276K	TAF8_ENST00000465926.1_Missense_Mutation_p.N200K|TAF8_ENST00000494547.1_Missense_Mutation_p.T317N|TAF8_ENST00000372982.4_Missense_Mutation_p.T317N|TAF8_ENST00000456846.2_Missense_Mutation_p.N276K	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	276					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)		p.N276K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			TGCAGCAGAACCCCTCCTTGT	0.507																																						uc003ors.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(826-828)AAC>AAA		TBP-associated factor 8							96.0	97.0	97.0					6																	42044885		1932	4132	6064	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42044885C>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.828C>A	6.37:g.42044885C>A	ENSP00000362068:p.Asn276Lys					TAF8_uc003ort.2_Missense_Mutation_p.T317N|TAF8_uc003oru.1_Missense_Mutation_p.T317N|TAF8_uc003orv.1_Missense_Mutation_p.N276K|TAF8_uc011dun.1_Missense_Mutation_p.N200K	p.N276K	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		8	857	+	Colorectal(47;0.196)		276					Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.828C>A	CCDS43462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.23|11.23	1.578160|1.578160	0.28180|0.28180	.|.	.|.	ENSG00000137413|ENSG00000137413	ENST00000456846;ENST00000372977;ENST00000465926|ENST00000494547;ENST00000372982	.|.	.|.	.|.	5.73|5.73	4.86|4.86	0.63082|0.63082	.|.	0.265638|.	0.48286|.	D|.	0.000189|.	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	B;B;B|P	0.25904|0.49559	0.049;0.137;0.035|0.925	B;B;B|P	0.25140|0.44990	0.01;0.058;0.018|0.466	T|T	0.57359|0.57359	-0.7825|-0.7825	9|8	0.02654|0.87932	T|D	1|0	.|.	13.0178|13.0178	0.58768|0.58768	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	200;276;276|317	B4DZU5;Q7Z7C8-2;Q7Z7C8|Q7Z7C8-4	.;.;TAF8_HUMAN|.	K|N	276;276;200|317	.|.	ENSP00000362068:N276K|ENSP00000362073:T317N	N|T	+|+	3|2	2|0	TAF8|TAF8	42152863|42152863	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	0.807000|0.807000	0.27140|0.27140	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	AAC|ACC		PASS	0.507	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		14	132	14	132	---	---	---	---
YIPF3	25844	broad.mit.edu	37	6	43480208	43480208	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:43480208G>A	ENST00000372422.2	-	8	1056	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	YIPF3_ENST00000506469.1_Silent_p.L298L|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	292					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.L292L(1)		large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCAAAATGCAGATAGAGCAGG	0.567																																						uc003ovl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(874-876)CTG>TTG		natural killer cell-specific antigen KLIP1							53.0	54.0	54.0					6																	43480208		2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43480208G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.874C>T	6.37:g.43480208G>A						C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Silent_p.L257L|YIPF3_uc010jyr.1_Silent_p.L298L|YIPF3_uc010jys.1_Silent_p.L135L|YIPF3_uc003ovm.1_Silent_p.L166L|YIPF3_uc010jyt.1_Silent_p.L203L	p.L292L	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		8	1031	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		292			Helical; (Potential).		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.874C>T	CCDS4899.1																																																																																				PASS	0.567	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		11	67	11	67	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524604	51524604	+	Silent	SNP	G	G	C	rs368317856		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:51524604G>C	ENST00000371117.3	-	61	10595	c.10320C>G	c.(10318-10320)gtC>gtG	p.V3440V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3440			V -> D. {ECO:0000269|PubMed:12874454}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V3440V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACTGCTAAAGACATCAACAA	0.413																																						uc003pah.1																			1	Substitution - coding silent(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10318-10320)GTC>GTG		fibrocystin isoform 1							111.0	103.0	106.0					6																	51524604		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524604G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10320C>G	6.37:g.51524604G>C							p.V3440V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10596	-	Lung NSC(77;0.0605)		3440		V -> D.	Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10320C>G	CCDS4935.1																																																																																				PASS	0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		43	77	43	77	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55739436	55739436	+	Silent	SNP	A	A	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:55739436A>C	ENST00000370830.3	-	1	926	c.228T>G	c.(226-228)tcT>tcG	p.S76S	BMP5_ENST00000446683.2_Silent_p.S76S	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	76					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.S76S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGAGAGGTGCAGAGGACGCTT	0.468																																						uc003pcq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(226-228)TCT>TCG		bone morphogenetic protein 5 preproprotein							182.0	167.0	172.0					6																	55739436		2203	4300	6503	SO:0001819	synonymous_variant	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739436A>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.228T>G	6.37:g.55739436A>C						BMP5_uc011dxf.1_Silent_p.S76S	p.S76S	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	940	-	Lung NSC(77;0.0462)		76					B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	ENST00000370830.3	37	c.228T>G	CCDS4958.1																																																																																				PASS	0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			27	134	27	134	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133833901	133833901	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:133833901A>G	ENST00000367895.5	+	15	1788	c.1324A>G	c.(1324-1326)Aat>Gat	p.N442D	EYA4_ENST00000531901.1_Missense_Mutation_p.N448D|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000452339.2_Missense_Mutation_p.N388D|EYA4_ENST00000525849.1_Missense_Mutation_p.N419D|EYA4_ENST00000355286.6_Missense_Mutation_p.N419D|EYA4_ENST00000430974.2_Missense_Mutation_p.N394D|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Missense_Mutation_p.N442D|EYA4_ENST00000431403.2_Missense_Mutation_p.N442D	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	442					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.N442D(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCTGATGATAATGGGCAGGA	0.343																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1324-1326)AAT>GAT		eyes absent 4 isoform a							191.0	184.0	187.0					6																	133833901		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133833901A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1324A>G	6.37:g.133833901A>G	ENSP00000356870:p.Asn442Asp					EYA4_uc011ecq.1_Missense_Mutation_p.N388D|EYA4_uc011ecr.1_Missense_Mutation_p.N394D|EYA4_uc003qed.3_Missense_Mutation_p.N442D|EYA4_uc003qee.3_Missense_Mutation_p.N419D|EYA4_uc011ecs.1_Missense_Mutation_p.N448D|uc003qeg.1_Intron	p.N442D	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	15	1782	+	Colorectal(23;0.221)		442					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1324A>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425182	0.83667	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.26	5.26	0.73747	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.039587	0.85682	N	0.000000	D	0.84325	0.5447	L	0.45137	1.4	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.997;0.986;0.986;0.997;0.99	D;D;D;D;D;D	0.70935	0.971;0.957;0.956;0.956;0.971;0.936	D	0.85104	0.0959	10	0.45353	T	0.12	-26.9866	15.4602	0.75349	1.0:0.0:0.0:0.0	.	448;394;388;419;442;442	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	D	388;394;442;442;419;448;419;442	ENSP00000395916:N388D;ENSP00000388670:N394D;ENSP00000356870:N442D;ENSP00000347294:N442D;ENSP00000347434:N419D;ENSP00000432770:N448D;ENSP00000433219:N419D;ENSP00000404558:N442D	ENSP00000347294:N442D	N	+	1	0	EYA4	133875594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.877000	0.92386	2.103000	0.63969	0.528000	0.53228	AAT		PASS	0.343	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		82	133	82	133	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138192646	138192646	+	Silent	SNP	G	G	C	rs142122102		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:138192646G>C	ENST00000237289.4	+	2	348	c.282G>C	c.(280-282)gcG>gcC	p.A94A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	94	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.L95fs*4(1)|p.A94A(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGCTTGTGGCGCTGAAAACGA	0.507			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	uc003qhr.2				Rec	yes		6	6q23	7128	D|N|F	"""tumor necrosis factor, alpha-induced protein 3"""			L			marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma		27	Whole gene deletion(25)|Substitution - coding silent(1)|Deletion - Frameshift(1)	p.0?(22)	haematopoietic_and_lymphoid_tissue(26)|lung(1)	haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137						c.(280-282)GCG>GCC		tumor necrosis factor, alpha-induced protein 3							159.0	146.0	150.0					6																	138192646		2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138192646G>C	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.282G>C	6.37:g.138192646G>C						TNFAIP3_uc003qhs.2_Silent_p.A94A	p.A94A	NM_006290	NP_006281	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	2	348	+	Breast(32;0.135)|Colorectal(23;0.24)		94			TRAF-binding.|OTU.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.282G>C	CCDS5187.1																																																																																				PASS	0.507	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			37	102	37	102	---	---	---	---
TMEM181	57583	broad.mit.edu	37	6	159046221	159046221	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:159046221G>A	ENST00000367090.3	+	12	1462	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	AL591025.1_ENST00000397897.1_5'Flank	NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	484					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)	p.R484H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCCGAGCTACGTCACATGCCT	0.542																																						uc003qrm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1450-1452)CGT>CAT		G protein-coupled receptor 178							204.0	203.0	203.0					6																	159046221		2088	4198	6286	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159046221G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1451G>A	6.37:g.159046221G>A	ENSP00000356057:p.Arg484His					TMEM181_uc010kjr.1_Missense_Mutation_p.R315H	p.R484H	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	12	1462	+		Breast(66;0.000776)|Ovarian(120;0.0303)	484					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1451G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754045	0.49362	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.47177	0.85	5.26	5.26	0.73747	.	0.098857	0.64402	D	0.000005	T	0.36110	0.0955	M	0.76574	2.34	0.31949	N	0.609969	P	0.40398	0.716	B	0.34301	0.179	T	0.51694	-0.8673	10	0.54805	T	0.06	.	17.6356	0.88121	0.0:0.0:1.0:0.0	.	484	Q9P2C4	TM181_HUMAN	H	391;484	ENSP00000356057:R484H	ENSP00000323755:R391H	R	+	2	0	TMEM181	158966209	1.000000	0.71417	0.275000	0.24674	0.670000	0.39368	5.182000	0.65059	2.437000	0.82529	0.563000	0.77884	CGT		PASS	0.542	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		47	150	47	150	---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168317906	168317906	+	Silent	SNP	C	C	T	rs373339327		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:168317906C>T	ENST00000447894.2	+	19	2682	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	MLLT4_ENST00000400822.3_Silent_p.I893I|MLLT4_ENST00000392112.1_Silent_p.I878I|MLLT4_ENST00000344191.4_Silent_p.I894I|MLLT4_ENST00000392108.3_Silent_p.I894I|MLLT4_ENST00000366806.2_Silent_p.I894I|MLLT4_ENST00000351017.4_Silent_p.I901I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	894	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.I894I(1)|p.I878I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCCTTTTATCCCAACGGTGA	0.388			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		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(2677-2679)ATC>ATT		myeloid/lymphoid or mixed-lineage leukemia		C	,	0,4406		0,0,2203	172.0	161.0	165.0		2682,2634	2.7	0.9	6		165	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	894/1652,878/1744	168317906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168317906C>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.2682C>T	6.37:g.168317906C>T						MLLT4_uc003qwb.1_Silent_p.I878I|MLLT4_uc003qwc.1_Silent_p.I894I|MLLT4_uc003qwg.1_Silent_p.I203I	p.I893I	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)	19	2821	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	894			Dilute.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37	c.2679C>T																																																																																					PASS	0.388	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		66	125	66	125	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169637755	169637755	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr6:169637755G>T	ENST00000366787.3	-	9	1514	c.1265C>A	c.(1264-1266)aCa>aAa	p.T422K	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	422	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T422K(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCAAGCCCGTGTCTGGATGGA	0.652																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1264-1266)ACA>AAA		thrombospondin 2 precursor							85.0	78.0	80.0					6																	169637755		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637755G>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1265C>A	6.37:g.169637755G>T	ENSP00000355751:p.Thr422Lys						p.T422K	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	9	1513	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	422			TSP type-1 1.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1265C>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.077097	0.76415	.	.	ENSG00000186340	ENST00000366787	T	0.58060	0.36	4.65	4.65	0.58169	.	0.000000	0.41823	U	0.000807	T	0.58935	0.2157	L	0.53249	1.67	0.42313	D	0.992229	D	0.60575	0.988	P	0.60541	0.876	T	0.65253	-0.6213	10	0.87932	D	0	-20.3753	17.554	0.87885	0.0:0.0:1.0:0.0	.	422	P35442	TSP2_HUMAN	K	422	ENSP00000355751:T422K	ENSP00000355751:T422K	T	-	2	0	THBS2	169379680	1.000000	0.71417	0.911000	0.35937	0.566000	0.35808	7.230000	0.78097	2.133000	0.65898	0.552000	0.68991	ACA		PASS	0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		10	67	10	67	---	---	---	---
AP5Z1	9907	broad.mit.edu	37	7	4823974	4823974	+	Silent	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr7:4823974C>G	ENST00000348624.4	+	6	856	c.762C>G	c.(760-762)ggC>ggG	p.G254G	AP5Z1_ENST00000401897.1_Silent_p.G254G	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	254					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G965G(1)|p.G98G(1)									TGCACAGCGGCCCCGAGGGCC	0.682																																						uc003sne.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(760-762)GGC>GGG		hypothetical protein LOC9907							8.0	10.0	9.0					7																	4823974		1997	4131	6128	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4823974C>G	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.762C>G	7.37:g.4823974C>G						KIAA0415_uc010ksp.2_RNA	p.G254G	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	6	845	+		Ovarian(82;0.0175)	254					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.762C>G	CCDS47528.1																																																																																				PASS	0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			4	4	4	4	---	---	---	---
PDK4	5166	broad.mit.edu	37	7	95216387	95216387	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr7:95216387A>G	ENST00000005178.5	-	10	1227	c.1030T>C	c.(1030-1032)Ttt>Ctt	p.F344L		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	344	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.F344L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TCTCCTTGAAAGTACTTTGCA	0.378																																						uc003uoa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)TTT>CTT		pyruvate dehydrogenase kinase 4 precursor							85.0	84.0	84.0					7																	95216387		2203	4300	6503	SO:0001583	missense	5166				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr7:95216387A>G	U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1030T>C	7.37:g.95216387A>G	ENSP00000005178:p.Phe344Leu					PDK4_uc003unz.2_Missense_Mutation_p.F132L	p.F344L	NM_002612	NP_002603	Q16654	PDK4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		10	1350	-	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		344			Histidine kinase.			Missense_Mutation	SNP	ENST00000005178.5	37	c.1030T>C	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945658	0.92593	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.50813	0.73	5.32	5.32	0.75619	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.33485	1.01	0.80722	D	1	P	0.47677	0.899	P	0.52159	0.691	T	0.46652	-0.9176	10	0.42905	T	0.14	.	15.7617	0.78087	1.0:0.0:0.0:0.0	.	344	Q16654	PDK4_HUMAN	L	344;308	ENSP00000005178:F344L	ENSP00000005178:F344L	F	-	1	0	PDK4	95054323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	TTT		PASS	0.378	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612		3	44	3	44	---	---	---	---
ATXN7L1	222255	broad.mit.edu	37	7	105516995	105516995	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr7:105516995C>T	ENST00000419735.3	-	1	55	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ATXN7L1_ENST00000478915.1_5'Flank|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E4K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	4								p.E4K(2)		endometrium(1)|large_intestine(4)|lung(5)	10						CGAGAACGCTCCGACGTCATC	0.597																																						uc003vde.2																			2	Substitution - Missense(2)		lung(2)		0						c.(10-12)GAG>AAG		ataxin 7-like 1 isoform 1							72.0	63.0	66.0					7																	105516995		2203	4300	6503	SO:0001583	missense	222255							g.chr7:105516995C>T	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.10G>A	7.37:g.105516995C>T	ENSP00000410759:p.Glu4Lys					ATXN7L1_uc003vdi.2_Missense_Mutation_p.E4K|CDHR3_uc003vdk.2_5'Flank|uc003vdj.1_5'Flank	p.E4K	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN			1	37	-			4					A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	ENST00000419735.3	37	c.10G>A	CCDS47682.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136117	0.77662	.	.	ENSG00000146776	ENST00000419735;ENST00000318724	T	0.18657	2.2	4.68	4.68	0.58851	.	.	.	.	.	T	0.19248	0.0462	L	0.36672	1.1	0.80722	D	1	B;B	0.24426	0.103;0.035	B;B	0.25140	0.058;0.011	T	0.04373	-1.0956	9	0.87932	D	0	.	12.9188	0.58220	0.0:0.6953:0.3047:0.0	.	4;4	A4D0Q2;Q9ULK2	.;AT7L1_HUMAN	K	4	ENSP00000410759:E4K	ENSP00000326344:E4K	E	-	1	0	ATXN7L1	105304231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.696000	0.47052	2.294000	0.77228	0.485000	0.47835	GAG		PASS	0.597	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349037.2			12	42	12	42	---	---	---	---
SLC26A3	1811	broad.mit.edu	37	7	107427307	107427307	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr7:107427307C>G	ENST00000340010.5	-	8	1120	c.936G>C	c.(934-936)agG>agC	p.R312S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R277S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	312					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.R312S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCACTTTAAACCTGTTTTTAA	0.463																																						uc003ver.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(934-936)AGG>AGC		solute carrier family 26, member 3							165.0	155.0	158.0					7																	107427307		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107427307C>G	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.936G>C	7.37:g.107427307C>G	ENSP00000345873:p.Arg312Ser					SLC26A3_uc003ves.2_Missense_Mutation_p.R277S	p.R312S	NM_000111	NP_000102	P40879	S26A3_HUMAN			8	1147	-			312						Missense_Mutation	SNP	ENST00000340010.5	37	c.936G>C	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	6.489	0.458348	0.12342	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93189	-3.18;-3.18	5.43	2.43	0.29744	Sulphate transporter (1);	0.210232	0.56097	D	0.000026	D	0.88024	0.6326	L	0.49778	1.585	0.40132	D	0.97673	B;B	0.26935	0.164;0.037	B;B	0.29077	0.041;0.098	T	0.78894	-0.2024	10	0.16420	T	0.52	.	5.6841	0.17792	0.0:0.5385:0.0:0.4615	.	277;312	G5E9U3;P40879	.;S26A3_HUMAN	S	277;312	ENSP00000415817:R277S;ENSP00000345873:R312S	ENSP00000345873:R312S	R	-	3	2	SLC26A3	107214543	0.067000	0.21026	0.424000	0.26647	0.004000	0.04260	0.262000	0.18460	0.840000	0.34995	0.650000	0.86243	AGG		PASS	0.463	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		19	82	19	82	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117386086	117386086	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr7:117386086T>G	ENST00000160373.3	-	13	3507	c.3416A>C	c.(3415-3417)cAg>cCg	p.Q1139P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1139					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.Q1139P(1)		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)		GAGTGCAAGCTGATGTACTAT	0.393																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3415-3417)CAG>CCG		cortactin binding protein 2							147.0	131.0	137.0					7																	117386086		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117386086T>G		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3416A>C	7.37:g.117386086T>G	ENSP00000160373:p.Gln1139Pro						p.Q1139P	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	13	3508	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1139					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3416A>C	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118777	0.77323	.	.	ENSG00000077063	ENST00000160373	T	0.67523	-0.27	5.87	5.87	0.94306	.	0.156761	0.64402	D	0.000017	D	0.82848	0.5126	M	0.84585	2.705	0.53688	D	0.999974	D	0.76494	0.999	D	0.64410	0.925	D	0.85581	0.1240	10	0.72032	D	0.01	-2.6103	16.5764	0.84681	0.0:0.0:0.0:1.0	.	1139	Q8WZ74	CTTB2_HUMAN	P	1139	ENSP00000160373:Q1139P	ENSP00000160373:Q1139P	Q	-	2	0	CTTNBP2	117173322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.102000	0.71486	2.371000	0.80710	0.533000	0.62120	CAG		PASS	0.393	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		60	106	60	106	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30546779	30546779	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:30546779G>A	ENST00000221130.5	-	9	1030	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GSR_ENST00000546342.1_Missense_Mutation_p.P285S|GSR_ENST00000537535.1_Intron|GSR_ENST00000541648.1_Intron|GSR_ENST00000414019.1_Missense_Mutation_p.P271S	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	314			P -> H (in dbSNP:rs2020916).		cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)	p.P314S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	AGCCTACCGGGAACTGCAGTA	0.488																																						uc003xih.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(940-942)CCC>TCC		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						98.0	89.0	92.0					8																	30546779		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30546779G>A		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.940C>T	8.37:g.30546779G>A	ENSP00000221130:p.Pro314Ser						p.P314S	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	9	1031	-			314					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.940C>T	CCDS34877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.996354|3.996354	0.74818|0.74818	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342|ENST00000520888	T;T;T|.	0.66280|.	1.93;1.93;-0.2|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);|.	0.093734|.	0.85682|.	D|.	0.000000|.	T|T	0.36963|0.36963	0.0986|0.0986	N|N	0.03194|0.03194	-0.395|-0.395	0.80722|0.80722	D|D	1|1	P|.	0.49783|.	0.928|.	P|.	0.45946|.	0.498|.	T|T	0.32025|0.32025	-0.9922|-0.9922	10|5	0.25751|.	T|.	0.34|.	-20.1325|-20.1325	17.6312|17.6312	0.88108|0.88108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314|.	P00390|.	GSHR_HUMAN|.	S|F	314;271;285|267	ENSP00000221130:P314S;ENSP00000390065:P271S;ENSP00000445516:P285S|.	ENSP00000221130:P314S|.	P|S	-|-	1|2	0|0	GSR|GSR	30666321|30666321	1.000000|1.000000	0.71417|0.71417	0.859000|0.859000	0.33776|0.33776	0.025000|0.025000	0.11179|0.11179	7.787000|7.787000	0.85759|0.85759	2.763000|2.763000	0.94921|0.94921	0.563000|0.563000	0.77884|0.77884	CCC|TCC		PASS	0.488	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			22	80	22	80	---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49643960	49643960	+	Missense_Mutation	SNP	C	C	T	rs74697155	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:49643960C>T	ENST00000262103.3	-	2	241	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)	p.R54Q(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGGATGTTTCGAAATGCATT	0.393													C|||	19	0.00379393	0.0008	0.0086	5008	,	,		16832	0.0		0.0109	False		,,,				2504	0.001					uc003xqo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)CGA>CAA		EF-hand calcium binding domain 1 isoform a		C	,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	129.0	115.0	120.0		,161	4.9	1.0	8	dbSNP_131	120	66,8534	39.8+/-96.3	1,64,4235	yes	intron,missense	EFCAB1	NM_001142857.1,NM_024593.3	,43	1,69,6433	TT,TC,CC		0.7674,0.1135,0.5459	,probably-damaging	,54/212	49643960	71,12935	2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49643960C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.161G>A	8.37:g.49643960C>T	ENSP00000262103:p.Arg54Gln					EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	p.R54Q	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN			2	321	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.161G>A	CCDS6145.1	13	0.005952380952380952	0	0.0	3	0.008287292817679558	0	0.0	10	0.013192612137203167	C	29.9	5.048688	0.93740	0.001135	0.007674	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.68025	-0.3	4.89	4.89	0.63831	EF-hand-like domain (1);	0.052062	0.64402	D	0.000001	T	0.74336	0.3703	M	0.76574	2.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.75230	-0.3391	10	0.30854	T	0.27	.	15.9301	0.79651	0.0:1.0:0.0:0.0	.	54	Q9HAE3	EFCB1_HUMAN	Q	54	ENSP00000262103:R54Q	ENSP00000262103:R54Q	R	-	2	0	EFCAB1	49806513	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	5.199000	0.65152	2.688000	0.91661	0.650000	0.86243	CGA		PASS	0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		35	92	35	92	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121237336	121237336	+	Missense_Mutation	SNP	G	G	T	rs139519867		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:121237336G>T	ENST00000297848.3	+	15	2017	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y	COL14A1_ENST00000247781.3_Missense_Mutation_p.D488Y|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.D583Y	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.D583Y(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTTGAAGTCGATCCTATTAC	0.393																																						uc003yox.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1747-1749)GAT>TAT		collagen, type XIV, alpha 1 precursor							124.0	119.0	121.0					8																	121237336		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237336G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1747G>T	8.37:g.121237336G>T	ENSP00000297848:p.Asp583Tyr					COL14A1_uc003yoy.2_Missense_Mutation_p.D261Y	p.D583Y	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2012	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		583			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1747G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813325	0.70912	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.39	5.39	0.77823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108090	0.64402	D	0.000007	T	0.77837	0.4190	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.97;0.98	T	0.80951	-0.1153	10	0.87932	D	0	.	17.9201	0.88963	0.0:0.0:1.0:0.0	.	583;583	Q05707-2;Q05707	.;COEA1_HUMAN	Y	583;583;488;396	ENSP00000311809:D583Y;ENSP00000297848:D583Y;ENSP00000247781:D488Y;ENSP00000409461:D396Y	ENSP00000247781:D488Y	D	+	1	0	COL14A1	121306517	1.000000	0.71417	0.712000	0.30502	0.880000	0.50808	7.864000	0.87037	2.517000	0.84864	0.561000	0.74099	GAT		PASS	0.393	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		37	126	37	126	---	---	---	---
SLA	6503	broad.mit.edu	37	8	134060111	134060111	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:134060111C>G	ENST00000338087.5	-	6	1135	c.316G>C	c.(316-318)Ggc>Cgc	p.G106R	SLA_ENST00000427060.2_Missense_Mutation_p.G146R|SLA_ENST00000517648.1_Missense_Mutation_p.G123R|SLA_ENST00000524345.1_5'UTR|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'Flank|SLA_ENST00000395352.3_Missense_Mutation_p.G123R|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	106	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.G146R(1)|p.G106R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ATGAAGGAGCCGACCTTTGTG	0.577																																						uc003ytz.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|liver(1)	2						c.(316-318)GGC>CGC		Src-like-adaptor isoform a							74.0	73.0	73.0					8																	134060111		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134060111C>G		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.316G>C	8.37:g.134060111C>G	ENSP00000337548:p.Gly106Arg					TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.G123R|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.G123R|SLA_uc010mdy.1_Missense_Mutation_p.G106R|SLA_uc011ljd.1_Missense_Mutation_p.G146R	p.G106R	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		6	1148	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	106			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.316G>C	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072587	0.93950	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119	D;D;D;D;D	0.99186	-1.89;-1.89;-1.89;-5.53;-5.53	5.6	5.6	0.85130	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.99525	4.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.995;0.999;0.998	D	0.97315	0.9940	10	0.87932	D	0	-50.5173	17.4647	0.87629	0.0:1.0:0.0:0.0	.	123;106;106;106;106	B7Z4J2;Q6FI01;Q5TZW1;E5RJ69;Q13239	.;.;.;.;SLAP1_HUMAN	R	106;146;123;123;106	ENSP00000337548:G106R;ENSP00000394049:G146R;ENSP00000378759:G123R;ENSP00000428559:G123R;ENSP00000430596:G106R	ENSP00000337548:G106R	G	-	1	0	SLA	134129293	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.095000	0.76952	2.793000	0.96121	0.563000	0.77884	GGC		PASS	0.577	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			4	74	4	74	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs5293	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000377675.3_Silent_p.L453L|CYP11B1_ENST00000517471.1_Silent_p.L382L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ACTCGCTCCAGAAACAGACCC	0.607									Familial Hyperaldosteronism type I				.|||	14	0.00279553	0.0008	0.0043	5008	,	,		15997	0.0		0.006	False		,,,				2504	0.0041					uc003yxi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1144-1146)CTG>TTG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						61.0	61.0	61.0					8																	143956706		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956706G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1144C>T	8.37:g.143956706G>A						CYP11B1_uc010mex.2_Silent_p.L81L|CYP11B1_uc003yxh.2_Silent_p.L98L|CYP11B1_uc003yxj.2_Silent_p.L382L|CYP11B1_uc010mey.2_Silent_p.L453L	p.L382L	NM_000497	NP_000488	P15538	C11B1_HUMAN			7	1151	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		382					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1144C>T	CCDS6392.1																																																																																				PASS	0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			4	39	4	39	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006636	145006636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr8:145006636C>A	ENST00000322810.4	-	16	2489	c.2320G>T	c.(2320-2322)Gag>Tag	p.E774*	PLEC_ENST00000354589.3_Nonsense_Mutation_p.E637*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E623*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E664*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E615*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E641*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E605*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E637*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E660*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	774	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E774*(1)|p.E664*(1)|p.E637*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTCCTCCTCCTCCTTCTCA	0.617																																						uc003zaf.1																			3	Substitution - Nonsense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(2320-2322)GAG>TAG		plectin isoform 1							64.0	75.0	71.0					8																	145006636		2073	4204	6277	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145006636C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2320G>T	8.37:g.145006636C>A	ENSP00000323856:p.Glu774*					PLEC_uc003zab.1_Nonsense_Mutation_p.E637*|PLEC_uc003zac.1_Nonsense_Mutation_p.E641*|PLEC_uc003zad.2_Nonsense_Mutation_p.E637*|PLEC_uc003zae.1_Nonsense_Mutation_p.E605*|PLEC_uc003zag.1_Nonsense_Mutation_p.E615*|PLEC_uc003zah.2_Nonsense_Mutation_p.E623*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E664*	p.E774*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			16	2490	-			774			Spectrin 2.|Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.2320G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	39	7.684442	0.98431	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	.	.	.	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5447	0.76090	0.0:1.0:0.0:0.0	.	.	.	.	X	637;641;637;605;774;615;623;664;660;681	.	ENSP00000323856:E774X	E	-	1	0	PLEC	145078624	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.291000	0.78721	2.271000	0.75665	0.453000	0.30009	GAG		PASS	0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	71	24	71	---	---	---	---
CEP78	84131	broad.mit.edu	37	9	80879233	80879233	+	Splice_Site	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr9:80879233G>A	ENST00000424347.2	+	13	1914		c.e13+1		CEP78_ENST00000376598.2_Splice_Site|CEP78_ENST00000376597.4_Splice_Site|CEP78_ENST00000415759.2_Splice_Site|CEP78_ENST00000277082.5_Splice_Site			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.?(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGATGCTGGGTTAGTTACTT	0.378																																						uc004akx.2																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e13+1		centrosomal protein 78kDa isoform b							98.0	93.0	95.0					9																	80879233		1865	4094	5959	SO:0001630	splice_region_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80879233G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1625+1G>A	9.37:g.80879233G>A						CEP78_uc004aky.3_Splice_Site_p.G543_splice|CEP78_uc010mpp.2_Splice_Site_p.G543_splice|CEP78_uc004akz.1_Splice_Site_p.G30_splice	p.G542_splice	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			13	1901	+								A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Splice_Site	SNP	ENST00000424347.2	37	c.1625_splice		.	.	.	.	.	.	.	.	.	.	G	20.6	4.013635	0.75161	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1386	0.89631	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP78	80069053	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.191000	0.89716	2.497000	0.84241	0.563000	0.77884	.		PASS	0.378	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	Intron	16	35	16	35	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409714	7409714	+	Silent	SNP	G	G	A	rs113302721	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:7409714G>A	ENST00000361972.4	-	4	423	c.333C>T	c.(331-333)taC>taT	p.Y111Y	SFMBT2_ENST00000379711.2_Silent_p.Y111Y|SFMBT2_ENST00000397160.3_Silent_p.Y111Y|SFMBT2_ENST00000379713.3_Silent_p.Y111Y|SFMBT2_ENST00000397167.1_Silent_p.Y111Y	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	111					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.Y111Y(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGTCCTCCCCGTAACCGCAGT	0.587																																						uc009xio.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(331-333)TAC>TAT		Scm-like with four mbt domains 2							80.0	76.0	77.0					10																	7409714		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409714G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.333C>T	10.37:g.7409714G>A						SFMBT2_uc001ijn.1_Silent_p.Y111Y|SFMBT2_uc010qay.1_Silent_p.Y111Y|SFMBT2_uc001ijo.1_Silent_p.Y111Y	p.Y111Y	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	424	-			111			MBT 1.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.333C>T	CCDS31138.1																																																																																				PASS	0.587	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	62	11	62	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17278303	17278304	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:17278303_17278304GG>TT	ENST00000224237.5	+	8	1429_1430	c.1284_1285GG>TT	c.(1282-1287)ctGGat>ctTTat	p.D429Y	VIM_ENST00000544301.1_Missense_Mutation_p.D429Y|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	429	Tail.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.D429Y(2)|p.L428L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACTAATCTGGATTCACTCCC	0.337																																						uc001iou.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1282-1284)CTG>CTT|c.(1285-1287)GAT>TAT		vimentin																																				SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17278303G>T|g.chr10:17278304G>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	Exception_encountered	10.37:g.17278303_17278304delinsTT	ENSP00000224237:p.Asp429Tyr					VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.L428L|VIM_uc001ioy.1_Silent_p.L341L|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.L386L|VIM_uc001ipc.1_Intron|VIM_uc001iov.1_Intron|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.D429Y|VIM_uc001ioy.1_Missense_Mutation_p.D342Y|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.D387Y|VIM_uc001ipc.1_Intron	p.L428L|p.D429Y	NM_003380	NP_003371	P08670	VIME_HUMAN			9	1697|1698	+			428|429			Tail.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent|Missense_Mutation	SNP	ENST00000224237.5	37	c.1284G>T|c.1285G>T	CCDS7120.1																																																																																				PASS	0.337	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		63|62	188|189	62	188	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17645632	17645632	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:17645632G>A	ENST00000361271.3	-	4	447	c.410C>T	c.(409-411)tCt>tTt	p.S137F		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	137					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)	p.S137F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CACAATCACAGAAGTAGGTAC	0.333																																						uc001ipg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(409-411)TCT>TTT		protein tyrosine phosphatase-like, member A							88.0	81.0	83.0					10																	17645632		2203	4300	6503	SO:0001583	missense	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17645632G>A	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.410C>T	10.37:g.17645632G>A	ENSP00000355308:p.Ser137Phe					PTPLA_uc001iph.1_3'UTR	p.S137F	NM_014241	NP_055056	B0YJ81	HACD1_HUMAN			4	445	-			137			Cytoplasmic (Potential).		B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	c.410C>T	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273523	0.40194	.	.	ENSG00000165996	ENST00000361271	T	0.32515	1.45	4.87	4.87	0.63330	.	0.054292	0.85682	D	0.000000	T	0.64103	0.2568	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.73282	-0.4032	10	0.72032	D	0.01	-16.745	18.4033	0.90525	0.0:0.0:1.0:0.0	.	137	B0YJ81	HACD1_HUMAN	F	137	ENSP00000355308:S137F	ENSP00000355308:S137F	S	-	2	0	PTPLA	17685638	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.795000	0.99099	2.426000	0.82243	0.460000	0.39030	TCT		PASS	0.333	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		16	86	16	86	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28348669	28348669	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:28348669G>A	ENST00000375732.1	-	14	1467	c.1208C>T	c.(1207-1209)aCc>aTc	p.T403I	MPP7_ENST00000540098.1_Missense_Mutation_p.T403I|MPP7_ENST00000375719.3_Missense_Mutation_p.T403I|MPP7_ENST00000445954.2_Missense_Mutation_p.T278I|MPP7_ENST00000337532.5_Missense_Mutation_p.T403I			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	403	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.T403I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGCTCTGGTGGTATCTATGAT	0.338																																						uc001iua.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)ACC>ATC		palmitoylated membrane protein 7							98.0	94.0	95.0					10																	28348669		2203	4299	6502	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28348669G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1208C>T	10.37:g.28348669G>A	ENSP00000364884:p.Thr403Ile					MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.T403I|MPP7_uc009xla.2_Missense_Mutation_p.T403I|MPP7_uc010qdv.1_RNA	p.T403I	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			16	1612	-			403			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1208C>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612682	0.66672	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87168	0.2219	10	0.87932	D	0	.	19.4309	0.94765	0.0:0.0:1.0:0.0	.	403	Q5T2T1	MPP7_HUMAN	I	403;403;403;403;164;278	ENSP00000364884:T403I;ENSP00000337907:T403I;ENSP00000438693:T403I;ENSP00000364871:T403I;ENSP00000398319:T164I;ENSP00000405397:T278I	ENSP00000337907:T403I	T	-	2	0	MPP7	28388675	1.000000	0.71417	0.563000	0.28383	0.352000	0.29268	9.476000	0.97823	2.592000	0.87571	0.650000	0.86243	ACC		PASS	0.338	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		34	64	34	64	---	---	---	---
GDF2	2658	broad.mit.edu	37	10	48414384	48414384	+	Missense_Mutation	SNP	G	G	T	rs139154868		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:48414384G>T	ENST00000249598.1	-	2	643	c.484C>A	c.(484-486)Ccc>Acc	p.P162T		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	162					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P162T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCATGAGAGGGGTCCACGTGA	0.502																																						uc001jfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(484-486)CCC>ACC		growth differentiation factor 2 precursor		G	THR/PRO	0,4406		0,0,2203	74.0	65.0	68.0		484	-11.5	0.0	10	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	GDF2	NM_016204.1	38	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	162/430	48414384	1,13005	2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414384G>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.484C>A	10.37:g.48414384G>T	ENSP00000249598:p.Pro162Thr						p.P162T	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	647	-			162					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.484C>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412037	0.01145	0.0	1.16E-4	ENSG00000128802	ENST00000249598	T	0.62788	-0.0	5.73	-11.5	0.00074	Transforming growth factor-beta, N-terminal (1);	1.139000	0.05949	N	0.638442	T	0.34745	0.0908	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17289	-1.0374	10	0.13853	T	0.58	.	9.4238	0.38567	0.1411:0.6078:0.1706:0.0805	.	162	Q9UK05	GDF2_HUMAN	T	162	ENSP00000249598:P162T	ENSP00000249598:P162T	P	-	1	0	GDF2	48034390	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.052000	0.03503	-3.991000	0.00084	-1.650000	0.00758	CCC		PASS	0.502	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		6	39	6	39	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582652	55582652	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:55582652T>G	ENST00000320301.6	-	33	5228	c.4834A>C	c.(4834-4836)Act>Cct	p.T1612P	PCDH15_ENST00000395432.2_Missense_Mutation_p.T1572P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1543P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1609P|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1614P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1589P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1612					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T1612P(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGATTCCAGTGTTTTCATTT	0.438										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4834-4836)ACT>CCT		protocadherin 15 isoform CD1-4 precursor							188.0	180.0	183.0					10																	55582652		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582652T>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4834A>C	10.37:g.55582652T>G	ENSP00000322604:p.Thr1612Pro	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.T1609P|PCDH15_uc010qhw.1_Missense_Mutation_p.T1572P|PCDH15_uc010qhx.1_Missense_Mutation_p.T1543P|PCDH15_uc010qhy.1_Missense_Mutation_p.T1619P|PCDH15_uc010qhz.1_Missense_Mutation_p.T1614P|PCDH15_uc010qia.1_Missense_Mutation_p.T1592P|PCDH15_uc010qib.1_Missense_Mutation_p.T1589P	p.T1612P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5229	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1612			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4834A>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007001	0.19199	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.58210	0.37;0.35;0.39;0.35;0.35;0.35	5.09	-0.312	0.12758	.	.	.	.	.	T	0.31040	0.0784	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.09022	0.001;0.002;0.002;0.002;0.002;0.002;0.001;0.002	B;B;B;B;B;B;B;B	0.09377	0.003;0.003;0.002;0.002;0.003;0.003;0.004;0.003	T	0.22906	-1.0203	9	0.72032	D	0.01	.	1.9099	0.03285	0.1171:0.2136:0.1315:0.5378	.	1589;1612;1614;1619;1543;1572;1609;1612	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	P	1572;1614;1589;1612;1609;1619;1543	ENSP00000378820:T1572P;ENSP00000354950:T1614P;ENSP00000378821:T1589P;ENSP00000322604:T1612P;ENSP00000378818:T1609P;ENSP00000412628:T1543P	ENSP00000322604:T1612P	T	-	1	0	PCDH15	55252658	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.247000	0.08866	-0.323000	0.08602	-1.175000	0.01729	ACT		PASS	0.438	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		30	184	30	184	---	---	---	---
HNRNPH3	3189	broad.mit.edu	37	10	70097753	70097754	+	Splice_Site	DNP	GG	GG	TT			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:70097753_70097754GG>TT	ENST00000265866.7	+	3	416	c.251_251GG>TT	c.(250-252)aGGg>aTTgg	p.R84I	HNRNPH3_ENST00000441000.2_Intron|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Splice_Site_p.R84I	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	84	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)	p.?(2)|p.R84M(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						ATAGGGCACAGGTGGGGATGGA	0.475																																						uc001jnw.3																			3	Unknown(2)|Substitution - Missense(1)		lung(3)	ovary(2)	2						c.(250-252)AGG>ATG|c.e3+1		heterogeneous nuclear ribonucleoprotein H3																																				SO:0001630	splice_region_variant	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70097753G>T|g.chr10:70097754G>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	Exception_encountered	10.37:g.70097753_70097754delinsTT						HNRNPH3_uc001jnx.3_Missense_Mutation_p.R84M|HNRNPH3_uc009xpu.2_Translation_Start_Site|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.R35M|HNRNPH3_uc001jnx.3_Splice_Site_p.R84_splice|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Splice_Site_p.R35_splice	p.R84M|p.R84_splice	NM_012207	NP_036339	P31942	HNRH3_HUMAN			3	480	+			84|			RRM 1.|		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation|Splice_Site	SNP	ENST00000265866.7	37	c.251G>T|c.251_splice	CCDS7278.1																																																																																				PASS	0.475	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1		Missense_Mutation	28	68	28	68	---	---	---	---
PPA1	5464	broad.mit.edu	37	10	71969329	71969329	+	Silent	SNP	T	T	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:71969329T>A	ENST00000373232.3	-	7	723	c.624A>T	c.(622-624)gcA>gcT	p.A208A		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	208					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)	p.A208A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CTTTAAATTCTGCATTAAACG	0.353																																						uc001jqv.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(622-624)GCA>GCT		pyrophosphatase 1							107.0	103.0	104.0					10																	71969329		2203	4300	6503	SO:0001819	synonymous_variant	5464				diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding	g.chr10:71969329T>A	AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.624A>T	10.37:g.71969329T>A							p.A208A	NM_021129	NP_066952	Q15181	IPYR_HUMAN			7	731	-			208					Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Silent	SNP	ENST00000373232.3	37	c.624A>T	CCDS7299.1																																																																																				PASS	0.353	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129		43	64	43	64	---	---	---	---
C10orf11	83938	broad.mit.edu	37	10	77542758	77542758	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:77542758G>T	ENST00000372499.1	+	1	240	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	9					melanocyte differentiation (GO:0030318)			p.G9C(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GTCACTCAGCGGCAATCATTC	0.408																																						uc001jxi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GGC>TGC		chromosome 10 open reading frame 11							98.0	87.0	91.0					10																	77542758		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77542758G>T	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.25G>T	10.37:g.77542758G>T	ENSP00000361577:p.Gly9Cys						p.G9C	NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN			1	240	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		9			LRR 1.		B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.25G>T	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203282	0.38905	.	.	ENSG00000148655	ENST00000372499	T	0.26373	1.74	5.69	0.742	0.18341	.	.	.	.	.	T	0.25754	0.0627	N	0.24115	0.695	0.25506	N	0.987504	D	0.53885	0.963	P	0.54460	0.753	T	0.18840	-1.0324	9	0.38643	T	0.18	.	9.6943	0.40147	0.5888:0.0:0.4112:0.0	.	9	Q9H2I8	CJ011_HUMAN	C	9	ENSP00000361577:G9C	ENSP00000361577:G9C	G	+	1	0	C10orf11	77212764	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	0.936000	0.28938	-0.110000	0.12022	-0.136000	0.14681	GGC		PASS	0.408	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		3	69	3	69	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93999117	93999117	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:93999117G>C	ENST00000265997.4	-	2	1163	c.991C>G	c.(991-993)Ctg>Gtg	p.L331V	CPEB3_ENST00000412050.4_Missense_Mutation_p.L331V	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	331					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.L331V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AATGGCAACAGATTGTTACCA	0.537																																						uc001khw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)CTG>GTG		cytoplasmic polyadenylation element binding							38.0	38.0	38.0					10																	93999117		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999117G>C	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.991C>G	10.37:g.93999117G>C	ENSP00000265997:p.Leu331Val					CPEB3_uc001khu.1_Missense_Mutation_p.L331V|CPEB3_uc001khv.1_Missense_Mutation_p.L331V|CPEB3_uc010qnn.1_Missense_Mutation_p.L331V	p.L331V	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN			2	1164	-		Colorectal(252;0.0869)	331					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.991C>G	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246133	0.22796	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.53423	0.62;0.62	4.32	4.32	0.51571	.	0.240163	0.37761	N	0.001948	T	0.33118	0.0852	N	0.19112	0.55	0.34684	D	0.725016	B;B;B	0.32101	0.123;0.243;0.356	B;B;B	0.23275	0.041;0.02;0.045	T	0.51317	-0.8721	10	0.54805	T	0.06	-9.954	17.3701	0.87374	0.0:0.0:1.0:0.0	.	331;331;331	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	V	331	ENSP00000398310:L331V;ENSP00000265997:L331V	ENSP00000265997:L331V	L	-	1	2	CPEB3	93989097	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.660000	0.54496	2.384000	0.81235	0.563000	0.77884	CTG		PASS	0.537	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		4	24	4	24	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128150141	128150141	+	Silent	SNP	G	G	A	rs371859223		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:128150141G>A	ENST00000284694.7	-	5	1668	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	C10orf90_ENST00000454341.1_Silent_p.C419C|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000544758.1_Silent_p.C613C|C10orf90_ENST00000356858.3_Silent_p.C469C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	516					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.C516C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAAGTCACAGCATGTGTAAT	0.488																																						uc001ljq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1546-1548)TGC>TGT		hypothetical protein LOC118611		G		1,4403	2.1+/-5.4	0,1,2201	62.0	61.0	61.0		1548	3.9	1.0	10		61	0,8600		0,0,4300	no	coding-synonymous	C10orf90	NM_001004298.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		516/700	128150141	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	118611							g.chr10:128150141G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1548C>T	10.37:g.128150141G>A						C10orf90_uc001ljp.2_Silent_p.C372C|C10orf90_uc010qum.1_Silent_p.C613C|C10orf90_uc001ljo.2_RNA	p.C516C	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	5	1669	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	516					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	c.1548C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	5.972	0.363213	0.11296	2.27E-4	0.0	ENSG00000154493	ENST00000424927	.	.	.	4.81	3.91	0.45181	.	.	.	.	.	T	0.60025	0.2237	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57400	-0.7818	4	.	.	.	-19.4271	10.127	0.42656	0.0931:0.0:0.9069:0.0	.	.	.	.	V	59	.	.	A	-	2	0	C10orf90	128140131	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.420000	0.44679	1.257000	0.44085	0.561000	0.74099	GCT		PASS	0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	36	4	36	---	---	---	---
MTG1	92170	broad.mit.edu	37	10	135204834	135204834	+	5'Flank	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr10:135204834G>A	ENST00000317502.6	+	0	0				PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.G418E|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.G10E|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000278060.5_Missense_Mutation_p.G471R|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G418E(1)|p.G471R(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CCTGTTTGCGGGGGAAGCCAC	0.592																																						uc001lmv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1411-1413)GGG>AGG		polyamine oxidase isoform 1							73.0	77.0	76.0					10																	135204834		2203	4300	6503	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204834G>A		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204834G>A	Exception_encountered					PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Missense_Mutation_p.G418E|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	p.G471R	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1491	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	609					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.1411G>A	CCDS31320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.00|19.00	3.741318|3.741318	0.69304|0.69304	.|.	.|.	ENSG00000148832;ENSG00000254536|ENSG00000148832	ENST00000357296;ENST00000468317|ENST00000368542;ENST00000368538;ENST00000278060	T;T|T	0.42131|0.70986	0.98;1.33|-0.53	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.047112|0.047112	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84061|0.84061	0.5389|0.5389	.|.	.|.	.|.	0.39919|0.39919	D|D	0.974131|0.974131	B|D	0.24882|0.89917	0.113|1.0	B|D	0.26094|0.97110	0.066|1.0	D|D	0.86659|0.86659	0.1903|0.1903	9|9	0.66056|0.87932	D|D	0.02|0	-35.6396|-35.6396	15.9313|15.9313	0.79663|0.79663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418|471	Q6QHF9-4|Q6QHF9-2	.|.	E|R	418;10|423;192;471	ENSP00000349847:G418E;ENSP00000436767:G10E|ENSP00000278060:G471R	ENSP00000436767:G10E|ENSP00000278060:G471R	G|G	+|+	2|1	0|0	PAOX;MTG1|PAOX	135054824|135054824	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.712000|0.712000	0.41017|0.41017	8.740000|8.740000	0.91579|0.91579	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GGG|GGG		PASS	0.592	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		29	121	29	121	---	---	---	---
PDDC1	347862	broad.mit.edu	37	11	774114	774114	+	Splice_Site	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:774114C>T	ENST00000319863.8	-	3	163		c.e3-1		PDDC1_ENST00000529966.1_Splice_Site|PDDC1_ENST00000526325.1_Splice_Site|PDDC1_ENST00000442059.2_Splice_Site|PDDC1_ENST00000397472.2_Splice_Site|PDDC1_ENST00000524550.1_Splice_Site	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1							extracellular vesicular exosome (GO:0070062)		p.?(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCTTTCCCCTGGAGAAGCA	0.602																																						uc001lrc.2																			1	Unknown(1)		lung(1)		0						c.e3-1		Parkinson disease 7 domain containing 1							54.0	56.0	56.0					11																	774114		2203	4299	6502	SO:0001630	splice_region_variant	347862					extracellular region		g.chr11:774114C>T	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.142-1G>A	11.37:g.774114C>T						PDDC1_uc010qwm.1_Splice_Site|PDDC1_uc001lrd.2_Splice_Site_p.G48_splice|PDDC1_uc001lrf.1_Splice_Site_p.G48_splice|PDDC1_uc001lrg.1_Splice_Site|PDDC1_uc009ycg.2_Splice_Site|PDDC1_uc010qwn.1_Splice_Site|PDDC1_uc010qwo.1_Splice_Site|PDDC1_uc010qwp.1_Splice_Site_p.G48_splice|PDDC1_uc010qwq.1_Splice_Site|PDDC1_uc010qwr.1_Splice_Site_p.G48_splice|PDDC1_uc010qws.1_Splice_Site	p.G48_splice	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	167	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)						B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Splice_Site	SNP	ENST00000319863.8	37	c.142_splice	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935652	0.18206	.	.	ENSG00000177225	ENST00000397472;ENST00000319863;ENST00000526325;ENST00000524550	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2849	0.73819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDDC1	764114	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.290000	0.59019	2.279000	0.76181	0.644000	0.83932	.		PASS	0.602	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612	Intron	10	37	10	37	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023942	6023942	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:6023942G>C	ENST00000330728.4	-	1	482	c.437C>G	c.(436-438)tCg>tGg	p.S146W		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S146W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGCTGATCGACCTGAGGTC	0.547																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(436-438)TCG>TGG		olfactory receptor, family 56, subfamily A,							95.0	87.0	90.0					11																	6023942		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023942G>C	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.437C>G	11.37:g.6023942G>C	ENSP00000328215:p.Ser146Trp						p.S146W	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	437	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	94			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.437C>G	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	4.002	-0.002255	0.07819	.	.	ENSG00000183389	ENST00000330728	T	0.00606	6.26	3.27	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.270139	0.19204	U	0.120107	T	0.01905	0.0060	M	0.85462	2.755	0.09310	N	1	D	0.61080	0.989	P	0.55871	0.786	T	0.28459	-1.0043	10	0.87932	D	0	.	8.8452	0.35166	0.0:0.0:0.4537:0.5463	.	94	Q8NGH8	O56A4_HUMAN	W	146	ENSP00000328215:S146W	ENSP00000328215:S146W	S	-	2	0	OR56A4	5980518	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.034000	0.13776	0.653000	0.30826	0.505000	0.49811	TCG		PASS	0.547	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		20	65	20	65	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10514980	10514980	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:10514980G>A	ENST00000396554.3	+	7	1392	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	AMPD3_ENST00000444303.2_Missense_Mutation_p.D183N	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	342					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.D351N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GACGGAGCCTGACAGGACTGT	0.602																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1024-1026)GAC>AAC		adenosine monophosphate deaminase 3 isoform 1B							99.0	101.0	101.0					11																	10514980		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10514980G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1051G>A	11.37:g.10514980G>A	ENSP00000379802:p.Asp351Asn					AMPD3_uc010rbz.1_Missense_Mutation_p.D183N|AMPD3_uc001min.1_Missense_Mutation_p.D351N|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.D349N|AMPD3_uc009yfy.2_Missense_Mutation_p.D342N	p.D342N	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	7	1359	+			342					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1024G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295446	0.81025	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.44	4.47	0.54385	Adenosine/AMP deaminase (1);	0.184440	0.56097	D	0.000028	T	0.74465	0.3720	L	0.39085	1.19	0.44652	D	0.997636	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.16722	0.011;0.016;0.011	T	0.70615	-0.4823	10	0.45353	T	0.12	-27.2925	10.0802	0.42384	0.0748:0.1393:0.7859:0.0	.	349;342;351	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	N	183;351;342;349;342	ENSP00000396000:D183N;ENSP00000379802:D351N;ENSP00000379801:D342N;ENSP00000436987:D349N;ENSP00000431648:D342N	ENSP00000379801:D342N	D	+	1	0	AMPD3	10471556	0.974000	0.33945	0.994000	0.49952	0.921000	0.55340	1.696000	0.37773	2.549000	0.85964	0.561000	0.74099	GAC		PASS	0.602	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		21	90	21	90	---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10526199	10526199	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:10526199C>T	ENST00000396554.3	+	14	2488	c.2147C>T	c.(2146-2148)tCg>tTg	p.S716L	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Missense_Mutation_p.S548L	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	707					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.S716L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGCGGCCTCTCGCATCAGGTA	0.587																																						uc001mio.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(2119-2121)TCG>TTG		adenosine monophosphate deaminase 3 isoform 1B							144.0	109.0	121.0					11																	10526199		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10526199C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.2147C>T	11.37:g.10526199C>T	ENSP00000379802:p.Ser716Leu					AMPD3_uc010rbz.1_Missense_Mutation_p.S548L|AMPD3_uc001min.1_Missense_Mutation_p.S716L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.S714L|AMPD3_uc009yfy.2_Missense_Mutation_p.S707L	p.S707L	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	14	2455	+			707					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.2120C>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831616	0.91036	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	6.08	6.08	0.98989	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.67548	0.952;0.774;0.952	D	0.92357	0.5894	10	0.62326	D	0.03	-8.7803	20.6634	0.99662	0.0:1.0:0.0:0.0	.	714;707;716	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	548;716;707;714;707	ENSP00000396000:S548L;ENSP00000379802:S716L;ENSP00000379801:S707L;ENSP00000436987:S714L;ENSP00000431648:S707L	ENSP00000379801:S707L	S	+	2	0	AMPD3	10482775	1.000000	0.71417	0.976000	0.42696	0.651000	0.38670	5.893000	0.69798	2.894000	0.99253	0.655000	0.94253	TCG		PASS	0.587	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		14	60	14	60	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195510	18195510	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:18195510G>A	ENST00000314254.3	+	1	1127	c.707G>A	c.(706-708)gGg>gAg	p.G236E	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G236E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGCATTCTGGGGGCCCTAATT	0.532																																						uc001mnv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(706-708)GGG>GAG		MAS-related GPR, member X4							98.0	93.0	95.0					11																	18195510		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195510G>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.707G>A	11.37:g.18195510G>A	ENSP00000314042:p.Gly236Glu						p.G236E	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	1127	+			236			Helical; Name=6; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.707G>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	9.134	1.012232	0.19277	.	.	ENSG00000179817	ENST00000314254	T	0.37752	1.18	2.85	0.416	0.16416	GPCR, rhodopsin-like superfamily (1);	0.418311	0.20745	N	0.086478	T	0.22513	0.0543	N	0.21194	0.64	0.09310	N	1	B	0.23128	0.08	B	0.33121	0.158	T	0.17930	-1.0353	10	0.44086	T	0.13	.	4.4799	0.11762	0.1328:0.0:0.5623:0.3049	.	236	Q96LA9	MRGX4_HUMAN	E	236	ENSP00000314042:G236E	ENSP00000314042:G236E	G	+	2	0	MRGPRX4	18152086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.580000	0.00907	0.288000	0.22398	0.430000	0.28490	GGG		PASS	0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		9	51	9	51	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033613	30033613	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:30033613G>T	ENST00000328224.6	-	2	1846	c.613C>A	c.(613-615)Cct>Act	p.P205T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	205					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.P205T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTCTTTTCAGGGTCTCCCAAC	0.453																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(613-615)CCT>ACT		potassium voltage-gated channel, shaker-related							64.0	62.0	63.0					11																	30033613		1883	4115	5998	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033613G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.613C>A	11.37:g.30033613G>T	ENSP00000328511:p.Pro205Thr						p.P205T	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1765	-			205						Missense_Mutation	SNP	ENST00000328224.6	37	c.613C>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877892	0.72294	.	.	ENSG00000182255	ENST00000328224	T	0.76316	-1.01	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.84938	0.5583	M	0.88979	2.995	0.80722	D	1	P	0.51351	0.944	P	0.47075	0.536	D	0.89090	0.3482	10	0.87932	D	0	.	17.8942	0.88881	0.0:0.0:1.0:0.0	.	205	P22459	KCNA4_HUMAN	T	205	ENSP00000328511:P205T	ENSP00000328511:P205T	P	-	1	0	KCNA4	29990189	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.872000	0.87187	2.227000	0.72691	0.561000	0.74099	CCT		PASS	0.453	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	55	8	55	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47355472	47355472	+	Splice_Site	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:47355472C>T	ENST00000545968.1	-	28	3049		c.e28+1		MYBPC3_ENST00000399249.2_Splice_Site|MYBPC3_ENST00000256993.4_Splice_Site	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac						cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCCAGTCCCACCTGGAAAGGG	0.597																																						uc001nfa.3																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e27+1		myosin binding protein C, cardiac							20.0	28.0	25.0					11																	47355472		1943	4114	6057	SO:0001630	splice_region_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47355472C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2994+1G>A	11.37:g.47355472C>T							p.Q998_splice	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	27	3049	-								A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Splice_Site	SNP	ENST00000545968.1	37	c.2994_splice	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943765	0.73672	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	.	.	.	5.03	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0726	0.59070	0.0:0.9218:0.0:0.0782	.	.	.	.	.	-1	.	.	.	-	.	.	MYBPC3	47312048	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.168000	0.77570	1.361000	0.45981	0.585000	0.79938	.		PASS	0.597	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		Intron	3	8	3	8	---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57575873	57575873	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:57575873C>T	ENST00000399050.4	+	14	2639	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	CTNND1_ENST00000533667.1_Silent_p.Y372Y|CTNND1_ENST00000361332.4_Silent_p.Y695Y|CTNND1_ENST00000528621.1_Silent_p.Y641Y|CTNND1_ENST00000428599.2_Silent_p.Y695Y|CTNND1_ENST00000426142.2_Silent_p.Y594Y|CTNND1_ENST00000529986.1_Silent_p.Y594Y|CTNND1_ENST00000532844.1_Silent_p.Y647Y|CTNND1_ENST00000532649.1_Silent_p.Y641Y|CTNND1_ENST00000399039.4_Silent_p.Y701Y|CTNND1_ENST00000526772.1_Silent_p.Y372Y|CTNND1_ENST00000524630.1_Silent_p.Y695Y|CTNND1_ENST00000361391.6_Silent_p.Y695Y|CTNND1_ENST00000526938.1_Silent_p.Y701Y|CTNND1_ENST00000360682.6_Silent_p.Y701Y|CTNND1_ENST00000361796.4_Silent_p.Y695Y|CTNND1_ENST00000415361.2_Silent_p.Y600Y|CTNND1_ENST00000530094.1_Silent_p.Y594Y|CTNND1_ENST00000532245.1_Silent_p.Y594Y|CTNND1_ENST00000358694.6_Silent_p.Y695Y|CTNND1_ENST00000532463.1_Silent_p.Y594Y|CTNND1_ENST00000529526.1_Silent_p.Y641Y|CTNND1_ENST00000532787.1_Silent_p.Y594Y|CTNND1_ENST00000527467.1_Silent_p.Y378Y|CTNND1_ENST00000529919.1_Silent_p.Y701Y|CTNND1_ENST00000528232.1_Silent_p.Y600Y|CTNND1_ENST00000529873.1_Silent_p.Y641Y|CTNND1_ENST00000531014.1_Silent_p.Y372Y|CTNND1_ENST00000526357.1_Silent_p.Y641Y|CTNND1_ENST00000525902.1_Silent_p.Y378Y|CTNND1_ENST00000534579.1_Silent_p.Y641Y|CTNND1_ENST00000530748.1_Silent_p.Y647Y	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	701					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.Y701Y(1)|p.Y695Y(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATGGTCGATACATCCGCTCTG	0.443																																						uc001nmc.3																			2	Substitution - coding silent(2)		lung(2)	breast(4)|ovary(1)|kidney(1)	6						c.(2101-2103)TAC>TAT		catenin, delta 1 isoform 1ABC							118.0	118.0	118.0					11																	57575873		1985	4170	6155	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57575873C>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2103C>T	11.37:g.57575873C>T						CTNND1_uc001nlh.1_Silent_p.Y701Y|CTNND1_uc001nlu.3_Silent_p.Y594Y|CTNND1_uc001nlt.3_Silent_p.Y594Y|CTNND1_uc001nls.3_Silent_p.Y594Y|CTNND1_uc001nlw.3_Silent_p.Y594Y|CTNND1_uc001nmf.3_Silent_p.Y701Y|CTNND1_uc001nmd.3_Silent_p.Y647Y|CTNND1_uc001nlk.3_Silent_p.Y647Y|CTNND1_uc001nme.3_Silent_p.Y695Y|CTNND1_uc001nll.3_Silent_p.Y641Y|CTNND1_uc001nmg.3_Silent_p.Y641Y|CTNND1_uc001nlj.3_Silent_p.Y641Y|CTNND1_uc001nlr.3_Silent_p.Y641Y|CTNND1_uc001nlp.3_Silent_p.Y641Y|CTNND1_uc001nlx.3_Silent_p.Y378Y|CTNND1_uc001nlz.3_Silent_p.Y378Y|CTNND1_uc009ymn.2_Silent_p.Y372Y|CTNND1_uc001nlm.3_Silent_p.Y695Y|CTNND1_uc001nly.3_Silent_p.Y372Y|CTNND1_uc001nmb.3_Silent_p.Y372Y|CTNND1_uc001nma.3_Silent_p.Y372Y|CTNND1_uc001nmi.3_Silent_p.Y600Y|CTNND1_uc001nmh.3_Silent_p.Y695Y|CTNND1_uc001nlq.3_Silent_p.Y600Y|CTNND1_uc001nln.3_Silent_p.Y695Y|CTNND1_uc001nli.3_Silent_p.Y695Y|CTNND1_uc001nlo.3_Silent_p.Y594Y|CTNND1_uc001nlv.3_Silent_p.Y594Y	p.Y701Y	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			14	2674	+		all_epithelial(135;0.155)	701			ARM 8.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.2103C>T	CCDS44604.1																																																																																				PASS	0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		36	98	36	98	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65427630	65427630	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:65427630C>G	ENST00000406246.3	-	5	653	c.392G>C	c.(391-393)aGt>aCt	p.S131T	RELA_ENST00000525693.1_Missense_Mutation_p.S131T|RELA_ENST00000308639.9_Missense_Mutation_p.S131T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	131	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.S131T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GATGCGCTGACTGATAGCCTG	0.612																																						uc001ofg.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(391-393)AGT>ACT		v-rel reticuloendotheliosis viral oncogene							224.0	196.0	206.0					11																	65427630		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65427630C>G	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.392G>C	11.37:g.65427630C>G	ENSP00000384273:p.Ser131Thr					RELA_uc001ofh.2_Missense_Mutation_p.S131T|RELA_uc010ron.1_Missense_Mutation_p.S142T|RELA_uc009yqr.2_Missense_Mutation_p.S78T|RELA_uc001ofe.2_Missense_Mutation_p.S131T|RELA_uc001off.2_Missense_Mutation_p.S131T|RELA_uc009yqs.1_5'Flank	p.S131T	NM_021975	NP_068810	Q04206	TF65_HUMAN			5	532	-			131			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.392G>C	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.090083	0.07053	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.01	-7.05	0.01573	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.515436	0.21734	N	0.069933	T	0.12817	0.0311	N	0.03238	-0.38	0.25348	N	0.988892	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.0;0.001;0.0;0.001;0.002	T	0.22695	-1.0209	10	0.13853	T	0.58	-0.63	8.4619	0.32934	0.0:0.2605:0.2576:0.4819	.	131;118;131;131;142;131	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	T	131;131;131;131;142;142;122;100;131	ENSP00000384273:S131T;ENSP00000432537:S131T;ENSP00000311508:S131T;ENSP00000433526:S142T;ENSP00000434372:S122T;ENSP00000436545:S100T;ENSP00000431153:S131T	ENSP00000311508:S131T	S	-	2	0	RELA	65184206	0.104000	0.21937	0.102000	0.21198	0.256000	0.26092	0.364000	0.20325	-1.673000	0.01462	-4.481000	0.00005	AGT		PASS	0.612	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		28	80	28	80	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92532480	92532480	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:92532480A>T	ENST00000298047.6	+	9	6318	c.6301A>T	c.(6301-6303)Act>Tct	p.T2101S	FAT3_ENST00000409404.2_Missense_Mutation_p.T2101S|FAT3_ENST00000525166.1_Missense_Mutation_p.T1951S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2101	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T2101S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCCGGGACTCTGATTTA	0.458										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6301-6303)ACT>TCT		FAT tumor suppressor homolog 3							52.0	53.0	53.0					11																	92532480		1916	4126	6042	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532480A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6301A>T	11.37:g.92532480A>T	ENSP00000298047:p.Thr2101Ser	TCGA Ovarian(4;0.039)					p.T2101S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6318	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2101			Cadherin 19.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6301A>T		.	.	.	.	.	.	.	.	.	.	A	0.306	-0.970539	0.02232	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56444	0.46;0.46;0.46	5.9	5.9	0.94986	.	.	.	.	.	T	0.35998	0.0951	N	0.25825	0.765	0.80722	D	1	B	0.15930	0.015	B	0.17722	0.019	T	0.20042	-1.0287	9	0.07482	T	0.82	.	11.3804	0.49754	0.93:0.0:0.07:0.0	.	2101	Q8TDW7-3	.	S	2101;2101;1951	ENSP00000298047:T2101S;ENSP00000387040:T2101S;ENSP00000432586:T1951S	ENSP00000298047:T2101S	T	+	1	0	FAT3	92172128	0.969000	0.33509	0.999000	0.59377	0.350000	0.29205	2.073000	0.41519	2.264000	0.75181	0.533000	0.62120	ACT		PASS	0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	29	5	29	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101946619	101946619	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:101946619G>C	ENST00000434758.2	+	5	479	c.451G>C	c.(451-453)Gac>Cac	p.D151H	C11orf70_ENST00000526781.1_Missense_Mutation_p.D151H|C11orf70_ENST00000534360.1_Missense_Mutation_p.R95T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	151								p.D113H(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GCTAGTGGAAGACTCAGAAAA	0.313																																						uc001pgp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)GAC>CAC		hypothetical protein LOC85016							106.0	105.0	105.0					11																	101946619		2203	4299	6502	SO:0001583	missense	85016							g.chr11:101946619G>C	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.451G>C	11.37:g.101946619G>C	ENSP00000414390:p.Asp151His					C11orf70_uc001pgo.2_Missense_Mutation_p.R95T|C11orf70_uc001pgq.2_Missense_Mutation_p.D113H	p.D151H	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	5	479	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	151					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.451G>C	CCDS8313.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.64|17.64|17.64	3.439829|3.439829|3.439829	0.63067|0.63067|0.63067	.|.|.	.|.|.	ENSG00000137691|ENSG00000137691|ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732|ENST00000529204|ENST00000534360	.|.|.	.|.|.	.|.|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	0.084147|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.83700|0.83700|0.83700	0.5311|0.5311|0.5311	.|.|.	.|.|.	.|.|.	0.38362|0.38362|0.38362	D|D|D	0.944645|0.944645|0.944645	D|.|D	0.89917|.|0.76494	1.0|.|0.999	D|.|D	0.91635|.|0.83275	0.999|.|0.996	D|D|D	0.86101|0.86101|0.86101	0.1556|0.1556|0.1556	8|4|7	0.72032|.|0.72032	D|.|D	0.01|.|0.01	-14.4847|-14.4847|-14.4847	19.8575|19.8575|19.8575	0.96767|0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	151|.|95	Q9BRQ4|.|E9PJU1	CK070_HUMAN|.|.	H|N|T	151;151;113|42|95	.|.|.	ENSP00000392150:D113H|.|ENSP00000435482:R95T	D|K|R	+|+|+	1|3|2	0|2|0	C11orf70|C11orf70|C11orf70	101451829|101451829|101451829	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	8.741000|8.741000|8.741000	0.91583|0.91583|0.91583	2.767000|2.767000|2.767000	0.95098|0.95098|0.95098	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAC|AAG|AGA		PASS	0.313	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		17	101	17	101	---	---	---	---
KDELC2	143888	broad.mit.edu	37	11	108357165	108357165	+	Missense_Mutation	SNP	G	G	A	rs373424863		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:108357165G>A	ENST00000323468.5	-	3	468	c.403C>T	c.(403-405)Cca>Tca	p.P135S	KDELC2_ENST00000532730.1_5'Flank|KDELC2_ENST00000434945.2_Missense_Mutation_p.P79S|KDELC2_ENST00000375648.1_Missense_Mutation_p.P79S	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	135						endoplasmic reticulum (GO:0005783)		p.P135S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGGTACACTGGTCCTAGGGAA	0.468																																						uc001pkj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)CCA>TCA		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor		G	SER/PRO	1,3985		0,1,1992	71.0	68.0	69.0		403	4.7	0.9	11		69	0,8300		0,0,4150	no	missense	KDELC2	NM_153705.4	74	0,1,6142	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging	135/508	108357165	1,12285	1993	4150	6143	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108357165G>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.403C>T	11.37:g.108357165G>A	ENSP00000315386:p.Pro135Ser					KDELC2_uc001pki.2_Missense_Mutation_p.P79S	p.P135S	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	3	469	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	135					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.403C>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325154	0.81580	2.51E-4	0.0	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	T;T;T	0.18338	2.22;2.24;2.51	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.78637	2.42	0.80722	D	1	P;D	0.54772	0.781;0.968	B;P	0.56751	0.248;0.805	T	0.26121	-1.0112	10	0.56958	D	0.05	-13.1255	18.9021	0.92446	0.0:0.0:1.0:0.0	.	135;79	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	S	135;79;79	ENSP00000315386:P135S;ENSP00000413429:P79S;ENSP00000364799:P79S	ENSP00000315386:P135S	P	-	1	0	KDELC2	107862375	1.000000	0.71417	0.880000	0.34516	0.824000	0.46624	9.208000	0.95075	2.871000	0.98454	0.655000	0.94253	CCA		PASS	0.468	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		13	66	13	66	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	121028738	121028738	+	Silent	SNP	C	C	T	rs374996667		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:121028738C>T	ENST00000392793.1	+	14	4765	c.4494C>T	c.(4492-4494)ttC>ttT	p.F1498F	TECTA_ENST00000264037.2_Silent_p.F1498F			O75443	TECTA_HUMAN	tectorin alpha	1498	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F1498F(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCGCACCTTCGACGGCGCCT	0.642																																						uc010rzo.1																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(2)|skin(2)	10						c.(4492-4494)TTC>TTT		tectorin alpha precursor							46.0	37.0	40.0					11																	121028738		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028738C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4494C>T	11.37:g.121028738C>T							p.F1498F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4494	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1498			VWFD 4.			Silent	SNP	ENST00000392793.1	37	c.4494C>T	CCDS8434.1																																																																																				PASS	0.642	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		23	18	23	18	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123513295	123513295	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr11:123513295C>T	ENST00000392770.2	-	3	1106	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SCN3B_ENST00000299333.3_Missense_Mutation_p.D102N|SCN3B_ENST00000530277.1_Missense_Mutation_p.D102N	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	102	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.D102N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGACACGTCCTGCAGGTCC	0.572																																						uc001pza.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(304-306)GAC>AAC		voltage-gated sodium channel beta-3 subunit							94.0	87.0	90.0					11																	123513295		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513295C>T	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.304G>A	11.37:g.123513295C>T	ENSP00000376523:p.Asp102Asn					SCN3B_uc001pzb.1_Missense_Mutation_p.D102N	p.D102N	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	4	711	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	102			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.304G>A	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	36	5.911310	0.97093	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75969	-0.3130	10	0.29301	T	0.29	-4.7103	20.5666	0.99351	0.0:1.0:0.0:0.0	.	102	Q9NY72	SCN3B_HUMAN	N	102	ENSP00000376523:D102N;ENSP00000299333:D102N;ENSP00000432785:D102N;ENSP00000435554:D102N	ENSP00000299333:D102N	D	-	1	0	SCN3B	123018505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.410000	0.80065	2.854000	0.98071	0.655000	0.94253	GAC		PASS	0.572	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		44	111	44	111	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	250351	250351	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:250351G>A	ENST00000538872.1	+	5	2171	c.2053G>A	c.(2053-2055)Ggt>Agt	p.G685S	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.G685S|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.G382S			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	685	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G685S(1)|p.G382S(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CACCCCCATCGGTGTGGCCCA	0.602																																						uc001qhw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1144-1146)GGT>AGT		IQ motif and Sec7 domain 3							111.0	104.0	106.0					12																	250351		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:250351G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2053G>A	12.37:g.250351G>A	ENSP00000437554:p.Gly685Ser					IQSEC3_uc001qhu.1_Missense_Mutation_p.G382S|uc001qhv.1_RNA	p.G382S	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	2	1150	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		685			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1144G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355540	0.95854	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	N	0.05414	-0.055	0.80722	D	1	B;P	0.45594	0.368;0.862	B;B	0.40444	0.231;0.329	T	0.41395	-0.9511	10	0.87932	D	0	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	685;382	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	S	685;685;382	ENSP00000437554:G685S;ENSP00000315662:G685S;ENSP00000372292:G382S	ENSP00000315662:G685S	G	+	1	0	IQSEC3	120612	1.000000	0.71417	0.604000	0.28916	0.719000	0.41307	9.869000	0.99810	2.763000	0.94921	0.561000	0.74099	GGT		PASS	0.602	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		22	123	22	123	---	---	---	---
CCDC77	84318	broad.mit.edu	37	12	549899	549899	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:549899G>C	ENST00000239830.4	+	11	1337	c.1158G>C	c.(1156-1158)gaG>gaC	p.E386D	CCDC77_ENST00000422000.1_Missense_Mutation_p.E354D|CCDC77_ENST00000412006.2_Missense_Mutation_p.E354D|CCDC77_ENST00000540180.1_Missense_Mutation_p.E354D	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	386						centrosome (GO:0005813)|membrane (GO:0016020)		p.E386D(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGAGGAGAGAGATCTTCAAGG	0.453																																						uc001qig.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)GAG>GAC		coiled-coil domain containing 77 isoform a							100.0	102.0	101.0					12																	549899		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:549899G>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1158G>C	12.37:g.549899G>C	ENSP00000239830:p.Glu386Asp					CCDC77_uc009zdk.2_Missense_Mutation_p.E354D|CCDC77_uc010sdp.1_Missense_Mutation_p.E354D|CCDC77_uc010sdq.1_Missense_Mutation_p.E354D	p.E386D	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		11	1338	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		386			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.1158G>C	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276144	0.40294	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.29	3.46	0.39613	.	0.099543	0.64402	D	0.000002	T	0.40839	0.1133	L	0.40543	1.245	0.49389	D	0.999789	D	0.65815	0.995	D	0.63381	0.914	T	0.18555	-1.0333	10	0.14656	T	0.56	-22.9408	8.1795	0.31302	0.3294:0.0:0.6706:0.0	.	386	Q9BR77	CCD77_HUMAN	D	354;354;354;386;354	ENSP00000440554:E354D;ENSP00000391870:E354D;ENSP00000445873:E354D;ENSP00000239830:E386D;ENSP00000412925:E354D	ENSP00000239830:E386D	E	+	3	2	CCDC77	420160	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	1.315000	0.33608	0.619000	0.30197	0.563000	0.77884	GAG		PASS	0.453	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		16	77	16	77	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6638690	6638690	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:6638690C>G	ENST00000315579.5	+	28	4383	c.3584C>G	c.(3583-3585)tCc>tGc	p.S1195C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.S1150C|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1195					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.S1195C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGCTCCTCTCCTACATCACC	0.597																																						uc001qoo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(3583-3585)TCC>TGC		non-SMC condensin I complex, subunit D2							91.0	77.0	82.0					12																	6638690		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6638690C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3584C>G	12.37:g.6638690C>G	ENSP00000325017:p.Ser1195Cys					NCAPD2_uc010sfd.1_Missense_Mutation_p.S1150C	p.S1195C	NM_014865	NP_055680	Q15021	CND1_HUMAN			28	3630	+			1195					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3584C>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584310	0.65992	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.13901	2.55;2.55	5.27	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);	0.236984	0.44285	D	0.000466	T	0.34279	0.0892	M	0.83774	2.66	0.40380	D	0.979432	D;D	0.64830	0.994;0.981	P;D	0.62955	0.889;0.909	T	0.13548	-1.0505	10	0.56958	D	0.05	-5.7379	10.81	0.46540	0.0:0.6871:0.2459:0.0671	.	1150;1195	F5GZJ1;Q15021	.;CND1_HUMAN	C	1195;1150	ENSP00000325017:S1195C;ENSP00000444417:S1150C	ENSP00000325017:S1195C	S	+	2	0	NCAPD2	6508951	1.000000	0.71417	0.856000	0.33681	0.997000	0.91878	4.485000	0.60279	0.357000	0.24183	0.563000	0.77884	TCC		PASS	0.597	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		31	81	31	81	---	---	---	---
KLRB1	3820	broad.mit.edu	37	12	9754178	9754178	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:9754178G>C	ENST00000229402.3	-	2	149	c.103C>G	c.(103-105)Cct>Gct	p.P35A		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	35					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.P35A(1)		endometrium(2)|large_intestine(6)|lung(4)	12						TGATGCCAAGGTGAACCCTGA	0.408																																						uc010sgt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)CCT>GCT		killer cell lectin-like receptor subfamily B,							136.0	118.0	124.0					12																	9754178		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9754178G>C	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.103C>G	12.37:g.9754178G>C	ENSP00000229402:p.Pro35Ala						p.P35A	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			2	165	-			35			Cytoplasmic (Potential).		Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.103C>G	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	2.145	-0.395860	0.04899	.	.	ENSG00000111796	ENST00000229402	T	0.26957	1.7	3.23	-3.7	0.04437	.	1.732870	0.03657	N	0.242076	T	0.14917	0.0360	L	0.34521	1.04	0.09310	N	1	B	0.24768	0.111	B	0.17098	0.017	T	0.11060	-1.0603	10	0.32370	T	0.25	2.7066	0.1243	0.00067	0.3152:0.1518:0.2249:0.3081	.	35	Q12918	KLRB1_HUMAN	A	35	ENSP00000229402:P35A	ENSP00000229402:P35A	P	-	1	0	KLRB1	9645445	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-1.130000	0.03241	-0.954000	0.03640	-0.142000	0.14014	CCT		PASS	0.408	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		8	60	8	60	---	---	---	---
KLRC3	3823	broad.mit.edu	37	12	10588420	10588420	+	Missense_Mutation	SNP	C	C	G	rs147031208		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:10588420C>G	ENST00000539033.1	-	1	180	c.166G>C	c.(166-168)Gat>Cat	p.D56H	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.D56H|KLRC2_ENST00000381901.1_Missense_Mutation_p.D56H														p.D56H(1)									TATATTTTATCAATCCCTTGA	0.343																																						uc001qyh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(166-168)GAT>CAT		killer cell lectin-like receptor subfamily C,							103.0	112.0	109.0					12																	10588420		2122	4213	6335	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10588420C>G																												ENST00000539033.1:c.166G>C	12.37:g.10588420C>G	ENSP00000437563:p.Asp56His					KLRC2_uc010she.1_Missense_Mutation_p.D56H|KLRC2_uc001qyk.2_Missense_Mutation_p.D56H	p.D56H	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			1	173	-			56			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000539033.1	37	c.166G>C		.	.	.	.	.	.	.	.	.	.	C	9.538	1.112599	0.20795	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.04234	3.67;3.67;3.67	1.91	0.76	0.18442	.	1.249130	0.05438	N	0.547243	T	0.18173	0.0436	M	0.76170	2.325	0.09310	N	1	D;D;D	0.89917	0.998;0.986;1.0	P;P;D	0.71656	0.872;0.872;0.974	T	0.10177	-1.0641	10	0.66056	D	0.02	.	5.2419	0.15477	0.4885:0.5115:0.0:0.0	.	42;56;56	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	H	56	ENSP00000437563:D56H;ENSP00000371327:D56H;ENSP00000371326:D56H	ENSP00000371326:D56H	D	-	1	0	KLRC2;RP11-277P12.6	10479687	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.344000	0.07780	0.220000	0.20860	0.184000	0.17185	GAT		PASS	0.343	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			29	201	29	201	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22637741	22637741	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:22637741G>A	ENST00000333957.4	-	13	1695	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	C2CD5_ENST00000544930.1_Silent_p.L295L|C2CD5_ENST00000545552.1_Silent_p.L493L|C2CD5_ENST00000446597.1_Silent_p.L480L|C2CD5_ENST00000396028.2_Silent_p.L471L|C2CD5_ENST00000536386.1_Silent_p.L482L|C2CD5_ENST00000542676.1_Silent_p.L480L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	480					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.L480L(1)|p.L295L(1)									AGCAATATGTGAGATGAGCTG	0.338																																						uc001rfq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1438-1440)CTC>CTT		hypothetical protein LOC9847							99.0	96.0	97.0					12																	22637741		2203	4300	6503	SO:0001819	synonymous_variant	9847						protein binding	g.chr12:22637741G>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1440C>T	12.37:g.22637741G>A						KIAA0528_uc010sir.1_Silent_p.L295L|KIAA0528_uc010sis.1_Silent_p.L480L|KIAA0528_uc010sit.1_Silent_p.L482L|KIAA0528_uc010siu.1_Silent_p.L480L|KIAA0528_uc001rfr.2_Silent_p.L471L|KIAA0528_uc009ziy.1_Silent_p.L482L	p.L480L	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			13	1668	-			480					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	ENST00000333957.4	37	c.1440C>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608500	0.14002	.	.	ENSG00000111731	ENST00000535555	.	.	.	5.24	1.38	0.22167	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	4	.	.	.	-9.4477	5.9244	0.19101	0.2231:0.2894:0.4876:0.0	.	.	.	.	Y	178	.	.	H	-	1	0	KIAA0528	22529008	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.586000	0.46119	-0.023000	0.13963	-0.136000	0.14681	CAC		PASS	0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		34	86	34	86	---	---	---	---
C2CD5	9847	broad.mit.edu	37	12	22637746	22637746	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:22637746G>A	ENST00000333957.4	-	13	1690	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	C2CD5_ENST00000544930.1_Missense_Mutation_p.H294Y|C2CD5_ENST00000545552.1_Missense_Mutation_p.H492Y|C2CD5_ENST00000446597.1_Missense_Mutation_p.H479Y|C2CD5_ENST00000396028.2_Missense_Mutation_p.H470Y|C2CD5_ENST00000536386.1_Missense_Mutation_p.H481Y|C2CD5_ENST00000542676.1_Missense_Mutation_p.H479Y	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	479					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.H479Y(1)|p.H294Y(1)									TATGTGAGATGAGCTGGAAAT	0.333																																						uc001rfq.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1435-1437)CAT>TAT		hypothetical protein LOC9847							98.0	94.0	95.0					12																	22637746		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22637746G>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1435C>T	12.37:g.22637746G>A	ENSP00000334229:p.His479Tyr					KIAA0528_uc010sir.1_Missense_Mutation_p.H294Y|KIAA0528_uc010sis.1_Missense_Mutation_p.H479Y|KIAA0528_uc010sit.1_Missense_Mutation_p.H481Y|KIAA0528_uc010siu.1_Missense_Mutation_p.H479Y|KIAA0528_uc001rfr.2_Missense_Mutation_p.H470Y|KIAA0528_uc009ziy.1_Missense_Mutation_p.H481Y	p.H479Y	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			13	1663	-			479					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1435C>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.628680|3.628680	0.67015|0.67015	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85;0.85|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.063724|.	0.64402|.	D|.	0.000005|.	T|T	0.42359|0.42359	0.1199|0.1199	N|N	0.14661|0.14661	0.345|0.345	0.43988|0.43988	D|D	0.996684|0.996684	P;P;P;P;P;B|.	0.50272|.	0.89;0.673;0.933;0.824;0.919;0.229|.	B;B;P;B;B;B|.	0.47206|.	0.422;0.094;0.541;0.242;0.277;0.04|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.66056|.	D|.	0.02|.	-14.9232|-14.9232	13.762|13.762	0.62973|0.62973	0.0:0.0:0.8463:0.1537|0.0:0.0:0.8463:0.1537	.|.	481;479;294;481;470;479|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	Y|L	479;479;481;470;479;492;294|176	ENSP00000334229:H479Y;ENSP00000388756:H479Y;ENSP00000439392:H481Y;ENSP00000379345:H470Y;ENSP00000441951:H479Y;ENSP00000443204:H492Y;ENSP00000445288:H294Y|.	ENSP00000334229:H479Y|.	H|S	-|-	1|2	0|0	KIAA0528|KIAA0528	22529013|22529013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.191000|6.191000	0.72063|0.72063	2.427000|2.427000	0.82271|0.82271	0.655000|0.655000	0.94253|0.94253	CAT|TCA		PASS	0.333	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		33	82	33	82	---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25243095	25243095	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:25243095G>A	ENST00000354454.3	+	13	1399	c.570G>A	c.(568-570)ttG>ttA	p.L190L	LRMP_ENST00000548766.1_Silent_p.L190L|LRMP_ENST00000547044.1_Silent_p.L190L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	246					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L190L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGAAAATTTGAAGAAAGAAA	0.388																																						uc001rgh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(568-570)TTG>TTA		lymphoid-restricted membrane protein							91.0	93.0	92.0					12																	25243095		2203	4300	6503	SO:0001819	synonymous_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25243095G>A		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.570G>A	12.37:g.25243095G>A						LRMP_uc010sja.1_Silent_p.L190L|LRMP_uc010sjb.1_Silent_p.L137L|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.L190L|LRMP_uc010sjd.1_Silent_p.L137L	p.L190L	NM_006152	NP_006143	Q12912	LRMP_HUMAN			13	1604	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		246			Potential.|Cytoplasmic (Potential).		A0AVM2|B4E077|Q8N301	Silent	SNP	ENST00000354454.3	37	c.570G>A	CCDS8701.1																																																																																				PASS	0.388	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		57	91	57	91	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40114814	40114814	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:40114814G>T	ENST00000324616.5	+	13	1874	c.1720G>T	c.(1720-1722)Gcc>Tcc	p.A574S		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	574								p.A574S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTGCAATTCAGCCCACATTTT	0.383																																						uc001rmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1720-1722)GCC>TCC		hypothetical protein LOC283461							98.0	92.0	94.0					12																	40114814		1928	4139	6067	SO:0001583	missense	283461							g.chr12:40114814G>T	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1720G>T	12.37:g.40114814G>T	ENSP00000317671:p.Ala574Ser					C12orf40_uc009zjv.1_Intron	p.A574S	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			13	1887	+			574					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.1720G>T	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657333	0.29425	.	.	ENSG00000180116	ENST00000324616	T	0.45276	0.9	4.95	-1.86	0.07760	.	0.931916	0.09031	N	0.858794	T	0.27063	0.0663	L	0.27053	0.805	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.21895	-1.0232	10	0.25751	T	0.34	.	9.1751	0.37107	0.6453:0.0:0.3547:0.0	.	574	Q86WS4	CL040_HUMAN	S	574	ENSP00000317671:A574S	ENSP00000317671:A574S	A	+	1	0	C12orf40	38401081	0.001000	0.12720	0.002000	0.10522	0.053000	0.15095	-0.632000	0.05489	-0.229000	0.09854	0.585000	0.79938	GCC		PASS	0.383	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		16	70	16	70	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52162811	52162811	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:52162811C>G	ENST00000354534.6	+	17	3242	c.3064C>G	c.(3064-3066)Cac>Gac	p.H1022D	SCN8A_ENST00000545061.1_Missense_Mutation_p.H1022D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1022					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.H1022D(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CATGCAGGCCCACTTTAAGCA	0.517																																						uc001ryw.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(3064-3066)CAC>GAC		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						80.0	81.0	80.0					12																	52162811		2067	4211	6278	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52162811C>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3064C>G	12.37:g.52162811C>G	ENSP00000346534:p.His1022Asp					SCN8A_uc010snl.1_Missense_Mutation_p.H887D	p.H1022D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	17	3242	+			1022					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.3064C>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056731	0.19907	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.83335	-1.71;-1.71;-1.71	4.55	4.55	0.56014	Sodium ion transport-associated (1);	0.357494	0.31884	N	0.006915	T	0.74846	0.3770	L	0.34521	1.04	0.42668	D	0.993502	B;B	0.32188	0.359;0.082	B;B	0.25614	0.062;0.023	T	0.73126	-0.4081	10	0.31617	T	0.26	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	1022;1022	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	D	1022;1022;1022;935	ENSP00000346534:H1022D;ENSP00000440360:H1022D;ENSP00000347255:H1022D	ENSP00000346534:H1022D	H	+	1	0	SCN8A	50449078	0.580000	0.26733	0.999000	0.59377	0.828000	0.46876	1.784000	0.38674	2.816000	0.96949	0.563000	0.77884	CAC		PASS	0.517	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	37	8	37	---	---	---	---
PMCH	5367	broad.mit.edu	37	12	102590466	102590466	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:102590466C>T	ENST00000329406.4	-	3	536	c.462G>A	c.(460-462)atG>atA	p.M154I	PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	154					cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)		p.M154I(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						CTCTTCCCAGCATACATCTGA	0.343																																						uc001tjl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)ATG>ATA		pro-melanin-concentrating hormone							133.0	137.0	135.0					12																	102590466		2203	4298	6501	SO:0001583	missense	5367				cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity	g.chr12:102590466C>T	M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.462G>A	12.37:g.102590466C>T	ENSP00000332225:p.Met154Ile					C12orf48_uc001tjg.2_3'UTR|C12orf48_uc010swa.1_3'UTR|C12orf48_uc001tjf.2_3'UTR|C12orf48_uc001tjh.2_3'UTR|C12orf48_uc010swb.1_3'UTR|C12orf48_uc009zuc.2_3'UTR|C12orf48_uc001tjj.2_3'UTR|C12orf48_uc001tjk.2_3'UTR|C12orf48_uc009zud.2_3'UTR	p.M154I	NM_002674	NP_002665	P20382	MCH_HUMAN			3	528	-			154					Q16044|Q8WVG0	Missense_Mutation	SNP	ENST00000329406.4	37	c.462G>A	CCDS31885.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632752	0.67015	.	.	ENSG00000183395	ENST00000329406	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.75777	2.31	0.49483	D	0.99979	P	0.51537	0.946	P	0.51487	0.671	T	0.78558	-0.2158	9	0.87932	D	0	.	18.2361	0.89949	0.0:1.0:0.0:0.0	.	154	P20382	MCH_HUMAN	I	154	.	ENSP00000332225:M154I	M	-	3	0	PMCH	101114596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.673000	0.68109	2.279000	0.76181	0.551000	0.68910	ATG		PASS	0.343	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409337.1	NM_002674		86	201	86	201	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130841573	130841573	+	Silent	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr12:130841573T>C	ENST00000245255.3	+	13	1787	c.1515T>C	c.(1513-1515)taT>taC	p.Y505Y		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	505					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.Y505Y(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGAAATTATGAAGCAGCCA	0.358																																						uc001uik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1513-1515)TAT>TAC		piwi-like 1							81.0	80.0	80.0					12																	130841573		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841573T>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1515T>C	12.37:g.130841573T>C						PIWIL1_uc001uij.1_Silent_p.Y505Y	p.Y505Y	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1605	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		505					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.1515T>C	CCDS9268.1																																																																																				PASS	0.358	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			16	43	16	43	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28897007	28897007	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr13:28897007T>C	ENST00000282397.4	-	21	3124	c.2873A>G	c.(2872-2874)gAt>gGt	p.D958G	FLT1_ENST00000543394.1_5'Flank|FLT1_ENST00000540678.1_Missense_Mutation_p.D176G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	958	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.D958G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTGACGCTATCTAGTCTTGG	0.478																																						uc001usb.3																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2872-2874)GAT>GGT		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						230.0	202.0	212.0					13																	28897007		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28897007T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2873A>G	13.37:g.28897007T>C	ENSP00000282397:p.Asp958Gly					FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.D83G|FLT1_uc001usa.3_Missense_Mutation_p.D176G	p.D958G	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	21	3158	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	958			Cytoplasmic (Potential).|Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2873A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024717	0.35701	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.78595	-1.0;-1.19	5.9	3.46	0.39613	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.456994	0.24502	N	0.037962	T	0.66489	0.2794	L	0.42686	1.345	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.58323	-0.7656	10	0.24483	T	0.36	.	8.1095	0.30907	0.0:0.0693:0.2729:0.6578	.	958	P17948	VGFR1_HUMAN	G	958;176	ENSP00000282397:D958G;ENSP00000443311:D176G	ENSP00000282397:D958G	D	-	2	0	FLT1	27795007	1.000000	0.71417	0.917000	0.36280	0.944000	0.59088	3.232000	0.51302	1.037000	0.40024	0.454000	0.30748	GAT		PASS	0.478	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			37	207	37	207	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101763505	101763505	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr13:101763505G>A	ENST00000251127.6	-	19	2346	c.2265C>T	c.(2263-2265)agC>agT	p.S755S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	755					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S755S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATGCTGCACGCTGAGGATTG	0.512																																						uc001vox.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2263-2265)AGC>AGT		voltage gated channel like 1							160.0	152.0	155.0					13																	101763505		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763505G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2265C>T	13.37:g.101763505G>A							p.S755S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			19	2454	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		755			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2265C>T	CCDS9498.1																																																																																				PASS	0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		34	287	34	287	---	---	---	---
RGS6	9628	broad.mit.edu	37	14	72985064	72985064	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr14:72985064G>T	ENST00000553530.1	+	15	1304	c.1097G>T	c.(1096-1098)tGg>tTg	p.W366L	RGS6_ENST00000434263.2_Missense_Mutation_p.W297L|RGS6_ENST00000407322.4_Missense_Mutation_p.W366L|RGS6_ENST00000343854.6_Missense_Mutation_p.W329L|RGS6_ENST00000553525.1_Missense_Mutation_p.W366L|RGS6_ENST00000402788.2_Missense_Mutation_p.W366L|RGS6_ENST00000406236.4_Missense_Mutation_p.W366L|RGS6_ENST00000555571.1_Missense_Mutation_p.W366L|RGS6_ENST00000404301.2_Missense_Mutation_p.W366L|RGS6_ENST00000556437.1_Missense_Mutation_p.W366L|RGS6_ENST00000554782.1_Missense_Mutation_p.W227L|RGS6_ENST00000355512.6_Missense_Mutation_p.W366L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	366	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.W366L(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCAGGTTCTGGCTGGCTGTC	0.537																																					Ovarian(143;1926 2468 21071 48641)	uc001xna.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|skin(1)	3						c.(1096-1098)TGG>TTG		regulator of G-protein signalling 6							67.0	66.0	66.0					14																	72985064		2203	4300	6503	SO:0001583	missense	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72985064G>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1097G>T	14.37:g.72985064G>T	ENSP00000452331:p.Trp366Leu					RGS6_uc010ttn.1_Missense_Mutation_p.W366L|RGS6_uc001xmx.3_Missense_Mutation_p.W366L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W366L|RGS6_uc010ttp.1_Missense_Mutation_p.W297L|RGS6_uc001xmz.1_Missense_Mutation_p.W227L	p.W366L	NM_004296	NP_004287	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	15	1620	+			366			RGS.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	ENST00000553530.1	37	c.1097G>T	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977062	0.92982	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.41	5.41	0.78517	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;0.991;1.0	D;D;P;D	0.77004	0.958;0.981;0.904;0.989	T	0.78532	-0.2168	10	0.87932	D	0	-6.722	18.5543	0.91077	0.0:0.0:1.0:0.0	.	297;366;371;366	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	L	366;366;366;366;366;366;366;366;366;329;338;297;227;227	ENSP00000451030:W366L;ENSP00000450936:W366L;ENSP00000452331:W366L;ENSP00000451855:W366L;ENSP00000347699:W366L;ENSP00000385243:W366L;ENSP00000384218:W366L;ENSP00000384612:W366L;ENSP00000383953:W366L;ENSP00000341199:W329L;ENSP00000412144:W297L;ENSP00000451912:W227L	ENSP00000341199:W329L	W	+	2	0	RGS6	72054817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.669000	0.98622	2.704000	0.92352	0.561000	0.74099	TGG		PASS	0.537	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			3	51	3	51	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28202861	28202861	+	Missense_Mutation	SNP	C	C	T	rs552418165		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr15:28202861C>T	ENST00000354638.3	-	16	1812	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	OCA2_ENST00000353809.5_Missense_Mutation_p.V529I|OCA2_ENST00000382996.2_Missense_Mutation_p.V553I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	553					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V553I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1657-1659)GTC>ATC		oculocutaneous albinism II							27.0	28.0	28.0					15																	28202861		2203	4299	6502	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202861C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1657G>A	15.37:g.28202861C>T	ENSP00000346659:p.Val553Ile					OCA2_uc010ayv.2_Missense_Mutation_p.V529I	p.V553I	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1767	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	553			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1657G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100052	0.76983	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90732	-2.72;-2.54;-2.68	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	N	0.05467	-0.045	0.54753	D	0.999985	P;P	0.49862	0.867;0.929	B;P	0.48270	0.163;0.572	D	0.85015	0.0908	10	0.28530	T	0.3	-31.6376	17.5483	0.87869	0.0:1.0:0.0:0.0	.	529;553	Q04671-2;Q04671	.;P_HUMAN	I	553;529;553	ENSP00000346659:V553I;ENSP00000261276:V529I;ENSP00000372457:V553I	ENSP00000261276:V529I	V	-	1	0	OCA2	25876456	1.000000	0.71417	0.937000	0.37676	0.516000	0.34256	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GTC		PASS	0.617	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		15	35	15	35	---	---	---	---
NUSAP1	51203	broad.mit.edu	37	15	41650394	41650394	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr15:41650394G>C	ENST00000559596.1	+	6	685	c.598G>C	c.(598-600)Gat>Cat	p.D200H	NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.D199H|NUSAP1_ENST00000260359.6_Missense_Mutation_p.D185H|NUSAP1_ENST00000560177.1_Missense_Mutation_p.D199H|NUSAP1_ENST00000450592.2_Missense_Mutation_p.D177H|NUSAP1_ENST00000414849.2_Missense_Mutation_p.D200H|NUSAP1_ENST00000450318.1_Missense_Mutation_p.D200H			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	200					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D200H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GGAGTCCATTGATCAATATAT	0.264																																						uc001zns.3																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)GAT>CAT		nucleolar and spindle associated protein 1							42.0	42.0	42.0					15																	41650394		1793	4032	5825	SO:0001583	missense	51203				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	g.chr15:41650394G>C	AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.598G>C	15.37:g.41650394G>C	ENSP00000453403:p.Asp200His					NUSAP1_uc001znq.3_Missense_Mutation_p.D5H|NUSAP1_uc001znr.3_Missense_Mutation_p.D200H|NUSAP1_uc010bce.2_Missense_Mutation_p.D200H|NUSAP1_uc001znt.3_Missense_Mutation_p.D185H|NUSAP1_uc001znv.3_Missense_Mutation_p.D199H|NUSAP1_uc001znu.3_Missense_Mutation_p.D199H|NUSAP1_uc010ucw.1_Missense_Mutation_p.D177H|NUSAP1_uc001znw.3_Missense_Mutation_p.D5H	p.D200H	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)	6	828	+		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	200					B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	ENST00000559596.1	37	c.598G>C	CCDS45234.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410494	0.42715	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T	0.34275	1.37;1.37;1.37	4.74	4.74	0.60224	.	0.148595	0.64402	D	0.000020	T	0.44180	0.1281	M	0.82517	2.595	0.49687	D	0.999813	B;B;B;B;B;B;B	0.32717	0.22;0.22;0.381;0.023;0.111;0.381;0.381	B;B;B;B;B;B;B	0.33620	0.115;0.124;0.167;0.077;0.151;0.167;0.167	T	0.53121	-0.8483	10	0.87932	D	0	.	13.1248	0.59349	0.0:0.0:1.0:0.0	.	177;200;199;199;200;200;200	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	H	200;200;200;177	ENSP00000400746:D200H;ENSP00000401351:D200H;ENSP00000401014:D177H	ENSP00000260359:D200H	D	+	1	0	NUSAP1	39437686	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	6.625000	0.74248	2.462000	0.83206	0.555000	0.69702	GAT		PASS	0.264	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419427.1	NM_016359		11	45	11	45	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63084980	63084980	+	Silent	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr15:63084980G>C	ENST00000561311.1	+	45	6107	c.5877G>C	c.(5875-5877)acG>acC	p.T1959T	TLN2_ENST00000306829.6_Silent_p.T1959T			Q9Y4G6	TLN2_HUMAN	talin 2	1959					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T1959T(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGCCGTCACGGAAAAGGTAA	0.562																																						uc002alb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5875-5877)ACG>ACC		talin 2							35.0	36.0	35.0					15																	63084980		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63084980G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5877G>C	15.37:g.63084980G>C						TLN2_uc002alc.3_Silent_p.T352T	p.T1959T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			43	5877	+			1959					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5877G>C	CCDS32261.1																																																																																				PASS	0.562	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			9	32	9	32	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77471165	77471165	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr15:77471165G>C	ENST00000560626.2	-	4	3579	c.3104C>G	c.(3103-3105)tCt>tGt	p.S1035C	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1035C|PEAK1_ENST00000558305.1_Missense_Mutation_p.S1035C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1035			S -> F (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S1035C(2)|p.S1035F(1)									TGATGGAGAAGAATGACTCCT	0.403																																						uc002bcm.2																			3	Substitution - Missense(3)	p.S1035F(1)	lung(2)|skin(1)		0						c.(3103-3105)TCT>TGT		NKF3 kinase family member							112.0	102.0	106.0					15																	77471165		1925	4141	6066	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471165G>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3104C>G	15.37:g.77471165G>C	ENSP00000452796:p.Ser1035Cys					SGK269_uc002bcn.2_Missense_Mutation_p.S1035C	p.S1035C	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	3412	-			1035		S -> F (in a metastatic melanoma sample; somatic mutation).			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3104C>G	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522681	0.44866	.	.	ENSG00000173517	ENST00000312493	T	0.69926	-0.44	5.42	5.42	0.78866	.	0.440276	0.22548	N	0.058624	T	0.51024	0.1650	N	0.14661	0.345	0.18873	N	0.999984	P	0.40660	0.726	B	0.36959	0.237	T	0.50372	-0.8836	10	0.37606	T	0.19	0.4535	17.4034	0.87467	0.0:0.0:1.0:0.0	.	1035	Q9H792	PEAK1_HUMAN	C	1035	ENSP00000309230:S1035C	ENSP00000309230:S1035C	S	-	2	0	AC087465.1	75258220	1.000000	0.71417	0.056000	0.19401	0.933000	0.57130	3.738000	0.55067	2.548000	0.85928	0.655000	0.94253	TCT		PASS	0.403	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			23	58	23	58	---	---	---	---
MEF2A	4205	broad.mit.edu	37	15	100246988	100246988	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr15:100246988G>A	ENST00000557785.1	+	9	1262	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	MEF2A_ENST00000338042.6_Missense_Mutation_p.V314M|MEF2A_ENST00000449277.2_Missense_Mutation_p.V237M|MEF2A_ENST00000558812.1_Missense_Mutation_p.V245M|MEF2A_ENST00000453228.2_Missense_Mutation_p.V305M|MEF2A_ENST00000557942.1_Missense_Mutation_p.V313M|MEF2A_ENST00000354410.5_Missense_Mutation_p.V307M	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	315					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.V315M(1)|p.V307M(1)|p.V305M(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TACCCCAGTCGTGTCTGTGAC	0.498																																						uc010urw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(943-945)GTG>ATG		myocyte enhancer factor 2A isoform 1							80.0	79.0	79.0					15																	100246988		2022	4172	6194	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100246988G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.913G>A	15.37:g.100246988G>A	ENSP00000453441:p.Val305Met					MEF2A_uc010urv.1_Missense_Mutation_p.V245M|MEF2A_uc010bos.2_Missense_Mutation_p.V305M|MEF2A_uc002bvf.2_Missense_Mutation_p.V307M|MEF2A_uc002bve.2_Missense_Mutation_p.V313M|MEF2A_uc002bvg.2_Missense_Mutation_p.V305M|MEF2A_uc002bvi.2_Missense_Mutation_p.V305M|MEF2A_uc010bot.2_Missense_Mutation_p.V237M	p.V315M	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		9	1302	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		315					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.943G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106695	0.94292	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T	0.36699	1.24;1.24;1.24	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.76838	2.35	0.51482	D	0.999925	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.997;0.994;0.999;0.999;0.997	T	0.65721	-0.6099	10	0.87932	D	0	-22.0079	20.6647	0.99678	0.0:0.0:1.0:0.0	.	315;245;226;305;307;313	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	M	305;307;314;245	ENSP00000404110:V305M;ENSP00000346389:V307M;ENSP00000337202:V314M	ENSP00000337202:V314M	V	+	1	0	MEF2A	98064511	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	7.636000	0.83301	2.890000	0.99128	0.655000	0.94253	GTG		PASS	0.498	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			12	33	12	33	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3658855	3658855	+	Missense_Mutation	SNP	G	G	T	rs188729744		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:3658855G>T	ENST00000294008.3	-	2	751	c.111C>A	c.(109-111)agC>agA	p.S37R		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	37	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.S37R(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAGTTTTAAGGCTTTCAGGCT	0.468								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0	5008	,	,		18093	0.0		0.001	False		,,,				2504	0.0					uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)AGC>AGA	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							103.0	96.0	98.0					16																	3658855		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658855G>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.111C>A	16.37:g.3658855G>T	ENSP00000294008:p.Ser37Arg					BTBD12_uc002cvq.1_Missense_Mutation_p.S37R	p.S37R	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			2	738	-			37			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.111C>A	CCDS10506.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.47	1.360616	0.24598	.	.	ENSG00000188827	ENST00000294008	T	0.01185	5.21	4.98	1.88	0.25563	.	0.603581	0.14985	N	0.287021	T	0.00967	0.0032	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47923	-0.9079	10	0.72032	D	0.01	.	4.3153	0.10990	0.0891:0.1574:0.5911:0.1625	.	37	Q8IY92	SLX4_HUMAN	R	37	ENSP00000294008:S37R	ENSP00000294008:S37R	S	-	3	2	SLX4	3598856	0.000000	0.05858	0.509000	0.27700	0.032000	0.12392	-0.071000	0.11505	0.615000	0.30124	-0.122000	0.15005	AGC		PASS	0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		19	120	19	120	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22319508	22319508	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:22319508C>A	ENST00000299853.5	+	4	294	c.127C>A	c.(127-129)Ccg>Acg	p.P43T	POLR3E_ENST00000359210.4_Missense_Mutation_p.P43T|POLR3E_ENST00000418581.2_Intron|POLR3E_ENST00000564209.1_Missense_Mutation_p.P43T|POLR3E_ENST00000564256.1_3'UTR	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	43					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.P43T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGATGACATTCCGCACCTCTC	0.627																																						uc002dkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(127-129)CCG>ACG		RNA polymerase III polypeptide E							98.0	74.0	82.0					16																	22319508		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22319508C>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.127C>A	16.37:g.22319508C>A	ENSP00000299853:p.Pro43Thr					POLR3E_uc002dkj.1_Missense_Mutation_p.P43T|POLR3E_uc002dkm.2_Missense_Mutation_p.P7T|POLR3E_uc010vbr.1_Missense_Mutation_p.P43T|POLR3E_uc002dkl.2_Missense_Mutation_p.P43T|POLR3E_uc010vbs.1_Intron|POLR3E_uc010vbt.1_Missense_Mutation_p.F3L	p.P43T	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	4	283	+			43					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.127C>A	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	C	6.518	0.463749	0.12402	.	.	ENSG00000058600	ENST00000299853;ENST00000359210	T;T	0.39787	1.06;1.06	5.5	5.5	0.81552	.	0.155552	0.53938	D	0.000041	T	0.12135	0.0295	N	0.00128	-2.045	0.29536	N	0.852443	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.12837	0.008;0.003;0.005;0.005	T	0.11792	-1.0573	10	0.87932	D	0	-17.1368	11.8325	0.52303	0.2809:0.7191:0.0:0.0	.	43;43;43;43	B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;RPC5_HUMAN;.	T	43	ENSP00000299853:P43T;ENSP00000352140:P43T	ENSP00000299853:P43T	P	+	1	0	POLR3E	22227009	0.822000	0.29219	0.996000	0.52242	0.872000	0.50106	2.712000	0.47186	2.598000	0.87819	0.555000	0.69702	CCG		PASS	0.627	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		14	74	14	74	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57951265	57951265	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:57951265C>A	ENST00000251102.8	-	21	2133	c.2073G>T	c.(2071-2073)tgG>tgT	p.W691C	CNGB1_ENST00000564448.1_Missense_Mutation_p.W685C	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	691					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.W691C(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCATCAGCAGCCAGTGGTGGA	0.557																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|pancreas(1)	4						c.(2071-2073)TGG>TGT		cyclic nucleotide gated channel beta 1 isoform							94.0	101.0	99.0					16																	57951265		2086	4215	6301	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57951265C>A	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2073G>T	16.37:g.57951265C>A	ENSP00000251102:p.Trp691Cys					CNGB1_uc010cdh.2_Missense_Mutation_p.W685C	p.W691C	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			21	2138	-			691			Helical; Name=H2; (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2073G>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967014	0.74131	.	.	ENSG00000070729	ENST00000251102	D	0.97575	-4.44	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	D	0.98776	0.9588	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99414	1.0931	10	0.87932	D	0	.	18.228	0.89924	0.0:1.0:0.0:0.0	.	63;691	Q14028-2;Q14028	.;CNGB1_HUMAN	C	691	ENSP00000251102:W691C	ENSP00000251102:W691C	W	-	3	0	CNGB1	56508766	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.468000	0.80943	2.860000	0.98153	0.655000	0.94253	TGG		PASS	0.557	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		20	86	20	86	---	---	---	---
FUK	197258	broad.mit.edu	37	16	70500096	70500096	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:70500096C>G	ENST00000288078.6	+	5	579	c.347C>G	c.(346-348)cCc>cGc	p.P116R	FUK_ENST00000428974.2_Missense_Mutation_p.P99R|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.P148R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	116						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.P116R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGGAGAACCCCGAGGCCCCC	0.637																																						uc002eyy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(346-348)CCC>CGC		fucokinase							53.0	60.0	58.0					16																	70500096		1952	4128	6080	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500096C>G		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.347C>G	16.37:g.70500096C>G	ENSP00000288078:p.Pro116Arg					FUK_uc010vmb.1_Missense_Mutation_p.P99R|FUK_uc010cft.2_Missense_Mutation_p.P148R|FUK_uc002eyz.2_Intron	p.P116R	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			5	405	+		Ovarian(137;0.0694)	116					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.347C>G	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395200	0.42512	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.40476	1.03;1.03;1.03	5.58	1.37	0.22104	L-fucokinase (1);	0.271236	0.36034	N	0.002828	T	0.46870	0.1415	M	0.62723	1.935	0.09310	N	0.999999	P;P;B	0.51147	0.942;0.874;0.02	P;P;B	0.54590	0.756;0.447;0.027	T	0.32295	-0.9912	10	0.66056	D	0.02	-1.8315	4.8605	0.13581	0.1253:0.6218:0.1209:0.132	.	99;148;116	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	R	116;148;99	ENSP00000288078:P116R;ENSP00000368192:P148R;ENSP00000408007:P99R	ENSP00000288078:P116R	P	+	2	0	FUK	69057597	0.846000	0.29590	0.810000	0.32431	0.059000	0.15707	2.265000	0.43311	0.395000	0.25257	0.655000	0.94253	CCC		PASS	0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		41	55	41	55	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845910	72845910	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:72845910A>C	ENST00000268489.5	-	6	4229	c.3557T>G	c.(3556-3558)cTg>cGg	p.L1186R	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.L272R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1186				EEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSP -> GEWSHRHGRPRLGLGVHLLETSRGLLFEGDVTDPAGPH VPY (in Ref. 5). {ECO:0000305}.	brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L1186R(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGAATCTGTCAGCTCCTTCTC	0.522																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(3556-3558)CTG>CGG		zinc finger homeobox 3 isoform A							98.0	91.0	94.0					16																	72845910		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845910A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3557T>G	16.37:g.72845910A>C	ENSP00000268489:p.Leu1186Arg					ZFHX3_uc002fcl.2_Missense_Mutation_p.L272R	p.L1186R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			6	4230	-		Ovarian(137;0.13)	1186	EEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSP -> GEWSHRHGRPRLGLGVHLLETSRGLLFEGDVTDPAGPH VPY (in Ref. 5).				D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3557T>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.272867	0.40194	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73363	-0.74;-0.71	5.86	5.86	0.93980	.	0.000000	0.39083	N	0.001463	T	0.53626	0.1808	N	0.08118	0	0.42244	D	0.991945	B	0.25955	0.138	B	0.28011	0.085	T	0.53816	-0.8385	10	0.15952	T	0.53	.	11.3292	0.49467	0.8643:0.0:0.0:0.1357	.	1186	Q15911	ZFHX3_HUMAN	R	1186;272	ENSP00000268489:L1186R;ENSP00000438926:L272R	ENSP00000268489:L1186R	L	-	2	0	ZFHX3	71403411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.384000	0.66225	2.367000	0.80283	0.528000	0.53228	CTG		PASS	0.522	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	54	23	54	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74695345	74695345	+	Start_Codon_SNP	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr16:74695345C>A	ENST00000361070.4	-	2	100	c.3G>T	c.(1-3)atG>atT	p.M1I	RFWD3_ENST00000571750.1_Start_Codon_SNP_p.M1I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	1					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M1I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTTCATGAGCCATCACTAGAG	0.393																																						uc002fda.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(1)	3						c.(1-3)ATG>ATT		ring finger and WD repeat domain 3							102.0	112.0	109.0					16																	74695345		2197	4299	6496	SO:0001582	initiator_codon_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695345C>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.3G>T	16.37:g.74695345C>A	ENSP00000354361:p.Met1Ile					RFWD3_uc010cgq.2_Missense_Mutation_p.M1I	p.M1I	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			2	101	-			1					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.3G>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968793	0.34754	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.26373	1.74	4.21	4.21	0.49690	.	0.502614	0.16917	N	0.194242	T	0.22003	0.0530	.	.	.	0.80722	D	1	B	0.25667	0.131	B	0.18871	0.023	T	0.06058	-1.0848	9	0.62326	D	0.03	-24.1888	12.275	0.54730	0.0:1.0:0.0:0.0	.	1	Q6PCD5	RFWD3_HUMAN	I	1	ENSP00000354361:M1I	ENSP00000354361:M1I	M	-	3	0	RFWD3	73252846	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	3.142000	0.50601	2.345000	0.79718	0.655000	0.94253	ATG		PASS	0.393	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	Missense_Mutation	67	206	67	206	---	---	---	---
TRPV1	7442	broad.mit.edu	37	17	3474819	3474819	+	Splice_Site	SNP	T	T	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:3474819T>A	ENST00000571088.1	-	15	2559	c.2346A>T	c.(2344-2346)agA>agT	p.R782S	TRPV1_ENST00000399756.4_Splice_Site_p.R782S|TRPV1_ENST00000399759.3_Splice_Site_p.R782S|TRPV1_ENST00000174621.6_Splice_Site_p.R780S|TRPV1_ENST00000576351.1_Splice_Site_p.R772S|TRPV1_ENST00000425167.2_Splice_Site_p.R793S|SHPK_ENST00000572705.1_Splice_Site_p.R782S|TRPV1_ENST00000310522.5_Splice_Site_p.R722S	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	782	Interaction with calmodulin. {ECO:0000250}.|Required for PIP2-mediated channel inhibition. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.R793S(1)|p.R782S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGCCTCACCTCTGCTTGACC	0.642																																					Melanoma(38;962 1762 15789)	uc010vrr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2344-2346)AGA>AGT		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						61.0	65.0	64.0					17																	3474819		2157	4263	6420	SO:0001630	splice_region_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3474819T>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2347+1A>T	17.37:g.3474819T>A						TRPV1_uc010vro.1_Missense_Mutation_p.R793S|TRPV1_uc010vrp.1_Missense_Mutation_p.R722S|TRPV1_uc010vrq.1_Missense_Mutation_p.R780S|TRPV1_uc010vrs.1_Missense_Mutation_p.R782S|TRPV1_uc010vrt.1_Missense_Mutation_p.R782S|TRPV1_uc010vru.1_Missense_Mutation_p.R782S	p.R782S	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	14	2873	-			782			Interaction with calmodulin (By similarity).|Cytoplasmic (Potential).|Required for PIP2-mediated channel inhibition (By similarity).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.2346A>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916448	0.73098	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	D;D;D;D;D	0.94046	-3.16;-3.16;-3.34;-3.08;-3.01	5.12	5.12	0.69794	.	0.131490	0.48286	D	0.000181	D	0.90253	0.6952	L	0.61218	1.895	0.80722	D	1	B;P;B;B	0.44627	0.075;0.839;0.366;0.265	B;B;B;B	0.33454	0.041;0.164;0.052;0.126	D	0.90842	0.4724	10	0.51188	T	0.08	-4.6788	14.4075	0.67093	0.0:0.0:0.0:1.0	.	782;780;722;793	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	S	782;782;780;793;722	ENSP00000382661:R782S;ENSP00000382659:R782S;ENSP00000174621:R780S;ENSP00000409627:R793S;ENSP00000311692:R722S	ENSP00000174621:R780S	R	-	3	2	TRPV1	3421569	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.327000	0.72910	2.057000	0.61298	0.528000	0.53228	AGA		PASS	0.642	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	Missense_Mutation	7	5	7	5	---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6337412	6337412	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:6337412A>C	ENST00000381129.3	-	2	183	c.103T>G	c.(103-105)Ttt>Gtt	p.F35V	AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000570466.1_Intron|AIPL1_ENST00000575265.1_Missense_Mutation_p.F35V|AIPL1_ENST00000250087.5_Missense_Mutation_p.F35V|AIPL1_ENST00000571740.1_Missense_Mutation_p.F35V|AIPL1_ENST00000576776.1_Missense_Mutation_p.F35V|AIPL1_ENST00000574506.1_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	35					negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)	p.F35V(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CGGAAATGAAAGATCACCTAG	0.567																																						uc002gcp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)TTT>GTT		aryl hydrocarbon receptor interacting							116.0	82.0	93.0					17																	6337412		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6337412A>C	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.103T>G	17.37:g.6337412A>C	ENSP00000370521:p.Phe35Val					AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.F35V|AIPL1_uc010clk.2_Intron|AIPL1_uc010cll.2_Missense_Mutation_p.F35V|AIPL1_uc002gcs.2_Missense_Mutation_p.F35V	p.F35V	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	198	-			35					D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.103T>G	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.209059	0.22205	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.82803	-1.65;-1.65	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.89093	0.6617	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;1.0	D;D;D;D	0.97110	0.992;0.992;0.998;1.0	D	0.87590	0.2490	10	0.06099	T	0.92	-12.0447	12.3229	0.54995	1.0:0.0:0.0:0.0	.	35;35;35;35	Q659W3;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;AIPL1_HUMAN	V	35	ENSP00000370521:F35V;ENSP00000250087:F35V	ENSP00000250087:F35V	F	-	1	0	AIPL1	6278136	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	8.962000	0.93254	1.781000	0.52344	0.528000	0.53228	TTT		PASS	0.567	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		7	15	7	15	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7139897	7139897	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:7139897A>C	ENST00000320316.3	-	4	575	c.349T>G	c.(349-351)Tct>Gct	p.S117A	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S113A	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	117							zinc ion binding (GO:0008270)	p.S117A(1)		breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TGCAGACGAGAGAAAGTGGAC	0.527																																						uc002gfa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(349-351)TCT>GCT		PHD finger protein 23							89.0	100.0	97.0					17																	7139897		1956	4148	6104	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139897A>C	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.349T>G	17.37:g.7139897A>C	ENSP00000322579:p.Ser117Ala					DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	p.S117A	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			4	576	-			117					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.349T>G	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	A	2.991	-0.208267	0.06180	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.31247	1.51;1.5	4.8	1.25	0.21368	.	0.354917	0.25610	N	0.029488	T	0.16769	0.0403	N	0.24115	0.695	0.23386	N	0.997787	B	0.06786	0.001	B	0.09377	0.004	T	0.14062	-1.0486	10	0.39692	T	0.17	-2.2402	5.801	0.18414	0.6221:0.0:0.3779:0.0	.	117	Q9BUL5	PHF23_HUMAN	A	117;113;117	ENSP00000322579:S117A;ENSP00000414607:S113A	ENSP00000043410:S117A	S	-	1	0	PHF23	7080621	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	1.216000	0.32443	0.342000	0.23796	0.455000	0.32223	TCT		PASS	0.527	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		55	100	55	100	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R158H	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	158	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 -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(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	CM994513	TP53	M		c.(472-474)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>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.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	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.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	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	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	45	36	45	---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37864713	37864713	+	Missense_Mutation	SNP	C	C	T	rs370959592		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:37864713C>T	ENST00000269571.5	+	3	524	c.365C>T	c.(364-366)cCg>cTg	p.P122L	ERBB2_ENST00000584450.1_Missense_Mutation_p.P122L|ERBB2_ENST00000540147.1_Missense_Mutation_p.P92L|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000578199.1_Missense_Mutation_p.P92L|ERBB2_ENST00000540042.1_Missense_Mutation_p.P92L|ERBB2_ENST00000584601.1_Missense_Mutation_p.P92L|ERBB2_ENST00000541774.1_Missense_Mutation_p.P107L|ERBB2_ENST00000406381.2_Missense_Mutation_p.P92L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	122					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.P122L(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AATGGAGACCCGCTGAACAAT	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Substitution - Missense(1)		lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(364-366)CCG>CTG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	97.0	100.0	99.0		365,275	-2.1	0.0	17		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ERBB2	NM_004448.2,NM_001005862.1	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	122/1256,92/1226	37864713	1,13005	2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37864713C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.365C>T	17.37:g.37864713C>T	ENSP00000269571:p.Pro122Leu	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.P92L|ERBB2_uc010cwa.2_Missense_Mutation_p.P107L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.P122L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.P92L|ERBB2_uc002hsn.1_Missense_Mutation_p.P122L	p.P122L	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	3	603	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	122			Extracellular (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.365C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	6.638	0.486199	0.12641	0.0	1.16E-4	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T	0.80393	-0.83;-0.82;-0.83;-0.83;-1.37	4.43	-2.06	0.07298	EGF receptor, L domain (1);	.	.	.	.	T	0.72566	0.3476	L	0.50333	1.59	0.25180	N	0.990213	B;B;B;B	0.14805	0.001;0.003;0.0;0.011	B;B;B;B	0.10450	0.0;0.0;0.0;0.005	T	0.59456	-0.7451	9	0.41790	T	0.15	.	10.0925	0.42456	0.0:0.6424:0.0:0.3576	.	92;107;122;122	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	L	92;107;122;92;92	ENSP00000385185:P92L;ENSP00000446466:P107L;ENSP00000269571:P122L;ENSP00000443562:P92L;ENSP00000446382:P92L	ENSP00000269571:P122L	P	+	2	0	ERBB2	35118239	0.104000	0.21937	0.011000	0.14972	0.650000	0.38633	-0.206000	0.09398	-0.395000	0.07715	-1.174000	0.01732	CCG		PASS	0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			62	93	62	93	---	---	---	---
DLX4	1748	broad.mit.edu	37	17	48050472	48050472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr17:48050472G>T	ENST00000240306.3	+	2	614	c.319G>T	c.(319-321)Gag>Tag	p.E107*	DLX4_ENST00000503410.1_3'UTR|DLX4_ENST00000411890.2_Nonsense_Mutation_p.E35*	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	107					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E107*(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGAACCCTCCGAGCGGCGCCC	0.662																																						uc002ipv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(319-321)GAG>TAG		distal-less homeobox 4 isoform a							28.0	35.0	33.0					17																	48050472		2203	4300	6503	SO:0001587	stop_gained	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050472G>T		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.319G>T	17.37:g.48050472G>T	ENSP00000240306:p.Glu107*					DLX4_uc002ipw.2_Nonsense_Mutation_p.E35*	p.E107*	NM_138281	NP_612138	Q92988	DLX4_HUMAN			2	590	+			107					D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Nonsense_Mutation	SNP	ENST00000240306.3	37	c.319G>T	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238322	0.95240	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	.	.	.	5.2	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-7.2037	13.0411	0.58899	0.0:0.4744:0.5256:0.0	.	.	.	.	X	107;35	.	ENSP00000240306:E107X	E	+	1	0	DLX4	45405471	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.554000	0.67294	0.213000	0.20722	0.655000	0.94253	GAG		PASS	0.662	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			15	19	15	19	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9254528	9254528	+	Silent	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr18:9254528C>G	ENST00000262126.4	+	9	1503	c.1263C>G	c.(1261-1263)gtC>gtG	p.V421V	ANKRD12_ENST00000383440.2_Silent_p.V398V|ANKRD12_ENST00000400020.3_Silent_p.V398V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	421						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V421V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CATCTAGGGTCTTATATTCAA	0.323																																						uc002knv.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1261-1263)GTC>GTG		ankyrin repeat domain 12 isoform 1							70.0	81.0	77.0					18																	9254528		2202	4291	6493	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9254528C>G	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1263C>G	18.37:g.9254528C>G						ANKRD12_uc002knw.2_Silent_p.V398V|ANKRD12_uc002knx.2_Silent_p.V398V|ANKRD12_uc010dkx.1_Silent_p.V128V	p.V421V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	1520	+			421					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.1263C>G	CCDS11843.1																																																																																				PASS	0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		25	152	25	152	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59942704	59942704	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr18:59942704G>A	ENST00000398130.2	+	22	3197	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	KIAA1468_ENST00000256858.6_Missense_Mutation_p.E1023K	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	989								p.E989K(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TAGAATGTTTGAGGTATGTCA	0.363																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2965-2967)GAG>AAG		hypothetical protein LOC57614							166.0	140.0	149.0					18																	59942704		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59942704G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2965G>A	18.37:g.59942704G>A	ENSP00000381198:p.Glu989Lys					KIAA1468_uc002lik.1_Missense_Mutation_p.E985K|KIAA1468_uc010xel.1_Missense_Mutation_p.E989K|KIAA1468_uc002lim.2_Missense_Mutation_p.E667K	p.E989K	NM_020854	NP_065905	Q9P260	K1468_HUMAN			22	3180	+		Colorectal(73;0.186)	989						Missense_Mutation	SNP	ENST00000398130.2	37	c.2965G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814457	0.70912	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.04406	3.63;3.63	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.152771	0.64402	D	0.000007	T	0.09949	0.0244	N	0.21142	0.635	0.80722	D	1	B;D;D	0.62365	0.235;0.991;0.974	B;P;P	0.56434	0.099;0.798;0.731	T	0.36720	-0.9736	9	.	.	.	-3.8337	19.9847	0.97341	0.0:0.0:1.0:0.0	.	1023;989;633	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	K	989;1023	ENSP00000381198:E989K;ENSP00000256858:E1023K	.	E	+	1	0	KIAA1468	58093684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.800000	0.96347	0.644000	0.83932	GAG		PASS	0.363	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		13	56	13	56	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67993357	67993357	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr18:67993357G>A	ENST00000397942.3	+	2	1769	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	SOCS6_ENST00000582322.1_Missense_Mutation_p.V485I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	485	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.V485I(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AACTTACCCCGTCAGACTGAC	0.458																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1453-1455)GTC>ATC		suppressor of cytokine signaling 6							106.0	95.0	99.0					18																	67993357		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993357G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1453G>A	18.37:g.67993357G>A	ENSP00000381034:p.Val485Ile					SOCS6_uc010dqq.2_Missense_Mutation_p.V485I	p.V485I	NM_004232	NP_004223	O14544	SOCS6_HUMAN			2	1769	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	485			SH2.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1453G>A	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470907	0.84533	.	.	ENSG00000170677	ENST00000397942	T	0.25749	1.78	5.7	5.7	0.88788	SH2 motif (2);	0.067857	0.64402	D	0.000019	T	0.39332	0.1074	M	0.77486	2.375	0.80722	D	1	P	0.40032	0.699	B	0.41174	0.349	T	0.31336	-0.9947	10	0.52906	T	0.07	-13.2949	19.8418	0.96692	0.0:0.0:1.0:0.0	.	485	O14544	SOCS6_HUMAN	I	485	ENSP00000381034:V485I	ENSP00000381034:V485I	V	+	1	0	SOCS6	66144337	1.000000	0.71417	0.391000	0.26233	0.923000	0.55619	9.664000	0.98607	2.685000	0.91497	0.561000	0.74099	GTC		PASS	0.458	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			15	73	15	73	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77659474	77659474	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr18:77659474C>G	ENST00000316249.3	+	2	1059	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	353					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)	p.F353L(1)		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)		GCCGCGACTTCTCCAGCGTGC	0.716																																						uc010xfl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)TTC>TTG		potassium voltage-gated channel, subfamily G,							21.0	22.0	21.0					18																	77659474		2200	4298	6498	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659474C>G	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.1059C>G	18.37:g.77659474C>G	ENSP00000315654:p.Phe353Leu						p.F353L	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1059	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	353						Missense_Mutation	SNP	ENST00000316249.3	37	c.1059C>G	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007976	0.75046	.	.	ENSG00000178342	ENST00000316249	T	0.50813	0.73	3.35	2.47	0.30058	Ion transport (1);	0.067720	0.64402	U	0.000011	T	0.68109	0.2965	M	0.85777	2.775	0.42398	D	0.992559	D	0.89917	1.0	D	0.91635	0.999	T	0.71048	-0.4705	10	0.87932	D	0	.	10.0578	0.42255	0.0:0.8989:0.0:0.1011	.	353	Q9UJ96	KCNG2_HUMAN	L	353	ENSP00000315654:F353L	ENSP00000315654:F353L	F	+	3	2	KCNG2	75760462	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.956000	0.56722	0.610000	0.30035	0.411000	0.27672	TTC		PASS	0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		5	20	5	20	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1108809	1108809	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:1108809C>T	ENST00000361757.3	-	31	3822	c.3585G>A	c.(3583-3585)cgG>cgA	p.R1195R	SBNO2_ENST00000587024.1_Silent_p.R1185R|SBNO2_ENST00000438103.2_Silent_p.R1138R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1195					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.R1195R(1)|p.R1213R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTTCAGCCGCACGATCT	0.716																																						uc002lrk.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(3583-3585)CGG>CGA		strawberry notch homolog 2 isoform 1							11.0	13.0	13.0					19																	1108809		2003	4163	6166	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1108809C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3585G>A	19.37:g.1108809C>T						SBNO2_uc002lri.3_5'UTR|SBNO2_uc002lrj.3_Silent_p.R1138R|SBNO2_uc010dse.2_Silent_p.R1178R|SBNO2_uc010xgj.1_Intron	p.R1195R	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	31	3823	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1195					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.3585G>A	CCDS45894.1																																																																																				PASS	0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		9	12	9	12	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8389685	8389685	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:8389685G>A	ENST00000593649.1	-	9	2177	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	KANK3_ENST00000330915.3_Silent_p.I704I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	704								p.I704I(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GGCCATGGCTGATGGCCAGCA	0.637																																						uc010dwa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2110-2112)ATC>ATT		ankyrin repeat domain 47							40.0	35.0	37.0					19																	8389685		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389685G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2112C>T	19.37:g.8389685G>A							p.I704I	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			9	2178	-			704			ANK 3.		Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2112C>T																																																																																					PASS	0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		23	63	23	63	---	---	---	---
ACTL9	284382	broad.mit.edu	37	19	8808794	8808794	+	Silent	SNP	G	G	T	rs141160056	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:8808794G>T	ENST00000324436.3	-	1	378	c.258C>A	c.(256-258)ccC>ccA	p.P86P		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	86						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P86P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCGAGGTGGCGGGTTTCTTGG	0.662																																						uc002mkl.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(256-258)CCC>CCA		actin-like 9							21.0	24.0	23.0					19																	8808794		2203	4298	6501	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808794G>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.258C>A	19.37:g.8808794G>T							p.P86P	NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN			1	379	-			86					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.258C>A	CCDS12207.1																																																																																				PASS	0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		3	41	3	41	---	---	---	---
ZNF561	93134	broad.mit.edu	37	19	9727722	9727722	+	Splice_Site	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:9727722C>T	ENST00000302851.3	-	4	603	c.240G>A	c.(238-240)gtG>gtA	p.V80V	ZNF561_ENST00000495503.1_Intron|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_Splice_Site_p.V80V|ZNF561_ENST00000424629.1_Splice_Site_p.V11V	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V11V(1)|p.V80V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TACTCTTACCCACAGAGGCCA	0.527																																						uc002mlu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(238-240)GTG>GTA		zinc finger protein 561							115.0	84.0	95.0					19																	9727722		2203	4300	6503	SO:0001630	splice_region_variant	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9727722C>T	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.241+1G>A	19.37:g.9727722C>T						ZNF561_uc010dwu.2_Silent_p.V11V|ZNF561_uc010xkr.1_5'UTR	p.V80V	NM_152289	NP_689502	Q8N587	ZN561_HUMAN			4	445	-			80			KRAB.		B4E2Q8|Q6PJS0	Silent	SNP	ENST00000302851.3	37	c.240G>A	CCDS12216.2																																																																																				PASS	0.527	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289	Silent	17	63	17	63	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12878912	12878912	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:12878912T>A	ENST00000397668.3	-	12	1203	c.1130A>T	c.(1129-1131)cAg>cTg	p.Q377L	HOOK2_ENST00000264827.5_Missense_Mutation_p.Q377L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	377	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.Q377L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GGCCTCCTCCTGCCGCTGGCC	0.582																																						uc002muy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1129-1131)CAG>CTG		hook homolog 2 isoform 1							81.0	84.0	83.0					19																	12878912		1929	4126	6055	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878912T>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1130A>T	19.37:g.12878912T>A	ENSP00000380785:p.Gln377Leu					HOOK2_uc010xmq.1_5'Flank|HOOK2_uc002muz.2_Missense_Mutation_p.Q377L	p.Q377L	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN			12	1301	-			377			Sufficient for interaction with microtubules.|Potential.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1130A>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497348	0.44455	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.18016	2.24;2.24	5.36	4.35	0.52113	.	0.310949	0.31673	N	0.007254	T	0.14141	0.0342	L	0.41236	1.265	0.09310	N	0.999996	B;B	0.21225	0.043;0.053	B;B	0.27715	0.049;0.082	T	0.13202	-1.0518	10	0.54805	T	0.06	-10.3197	6.0811	0.19942	0.0:0.085:0.1656:0.7494	.	377;377	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	L	377	ENSP00000380785:Q377L;ENSP00000264827:Q377L	ENSP00000264827:Q377L	Q	-	2	0	HOOK2	12739912	0.973000	0.33851	0.937000	0.37676	0.877000	0.50540	3.168000	0.50801	2.033000	0.60031	0.374000	0.22700	CAG		PASS	0.582	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		153	54	153	54	---	---	---	---
CASP14	23581	broad.mit.edu	37	19	15164318	15164318	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:15164318G>C	ENST00000427043.3	+	3	361	c.53G>C	c.(52-54)cGc>cCc	p.R18P	CASP14_ENST00000221740.1_Missense_Mutation_p.R18P|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	18					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R18H(1)|p.R18P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCAGGTGCCCGCCTGGCCCTA	0.512																																						uc010dzv.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(52-54)CGC>CCC		caspase 14 precursor							81.0	79.0	80.0					19																	15164318		2203	4300	6503	SO:0001583	missense	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164318G>C		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.53G>C	19.37:g.15164318G>C	ENSP00000393417:p.Arg18Pro					CASP14_uc002naf.2_Missense_Mutation_p.R18P	p.R18P	NM_012114	NP_036246	P31944	CASPE_HUMAN			3	361	+			18					O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.53G>C	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.606843	0.66558	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.03663	3.85;3.85	4.81	4.81	0.61882	Peptidase C14, caspase precursor p45, core (1);	0.238103	0.21366	N	0.075706	T	0.18841	0.0452	M	0.84683	2.71	0.39205	D	0.963211	D	0.76494	0.999	D	0.72338	0.977	T	0.01951	-1.1241	10	0.35671	T	0.21	.	13.3594	0.60646	0.0:0.0:1.0:0.0	.	18	P31944	CASPE_HUMAN	P	18	ENSP00000393417:R18P;ENSP00000221740:R18P	ENSP00000221740:R18P	R	+	2	0	CASP14	15025318	0.996000	0.38824	0.996000	0.52242	0.820000	0.46376	3.077000	0.50089	2.209000	0.71365	0.306000	0.20318	CGC		PASS	0.512	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		45	248	45	248	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T	rs369172315		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:15791259C>T	ENST00000550308.1	+	5	835	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T152M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	152					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGGATGCTGACGCCCGCCTTC	0.542																																						uc002nbl.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(454-456)ACG>ATG		cytochrome P450, family 4, subfamily F,		C	MET/THR	0,4406		0,0,2203	38.0	40.0	39.0		455	2.9	0.8	19		39	3,8597		0,3,4297	no	missense	CYP4F12	NM_023944.3	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	152/525	15791259	3,13003	2203	4300	6503	SO:0001583	missense	66002							g.chr19:15791259C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.455C>T	19.37:g.15791259C>T	ENSP00000448998:p.Thr152Met					CYP4F12_uc010xoo.1_Missense_Mutation_p.T152M|CYP4F12_uc010xop.1_3'UTR	p.T152M	NM_023944	NP_076433					5	516	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.455C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948280	0.34377	0.0	3.49E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70631	-0.5;-0.5	2.92	2.92	0.33932	.	0.000000	0.64402	U	0.000001	D	0.87317	0.6147	H	0.96430	3.82	0.53688	D	0.999974	D;D	0.89917	1.0;0.998	D;P	0.74023	0.982;0.906	D	0.90125	0.4202	10	0.72032	D	0.01	.	11.5983	0.50986	0.0:1.0:0.0:0.0	.	152;152	B4E270;Q9HCS2	.;CP4FC_HUMAN	M	152	ENSP00000448998:T152M;ENSP00000321821:T152M	ENSP00000321821:T152M	T	+	2	0	CYP4F12	15652259	0.997000	0.39634	0.800000	0.32199	0.013000	0.08279	4.050000	0.57404	1.625000	0.50366	0.491000	0.48974	ACG		PASS	0.542	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			18	57	18	57	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17265133	17265133	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:17265133G>C	ENST00000594824.1	+	6	1254	c.1107G>C	c.(1105-1107)ttG>ttC	p.L369F	MYO9B_ENST00000397274.2_Missense_Mutation_p.L369F|MYO9B_ENST00000595618.1_Missense_Mutation_p.L369F|CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	369	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L369F(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCATAACTTGAAGATTGAAG	0.567																																						uc010eak.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1105-1107)TTG>TTC		myosin IXB isoform 1							71.0	74.0	73.0					19																	17265133		1974	4167	6141	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17265133G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1107G>C	19.37:g.17265133G>C	ENSP00000471367:p.Leu369Phe					MYO9B_uc002nfi.2_Missense_Mutation_p.L369F|MYO9B_uc002nfj.1_Missense_Mutation_p.L369F	p.L369F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			6	1259	+			369			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1107G>C		.	.	.	.	.	.	.	.	.	.	G	9.053	0.992452	0.18966	.	.	ENSG00000099331	ENST00000397274	T	0.72051	-0.62	5.08	5.08	0.68730	Myosin head, motor domain (2);	0.000000	0.42682	D	0.000675	T	0.59742	0.2216	N	0.17345	0.48	0.37933	D	0.93207	B;B;B	0.31640	0.043;0.043;0.333	B;B;B	0.40329	0.173;0.173;0.326	T	0.61768	-0.6995	10	0.27082	T	0.32	.	12.5583	0.56267	0.0:0.0:0.8338:0.1662	.	369;369;375	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	F	369	ENSP00000380444:L369F	ENSP00000380444:L369F	L	+	3	2	MYO9B	17126133	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.771000	0.38542	2.357000	0.79964	0.563000	0.77884	TTG		PASS	0.567	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			26	138	26	138	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17442022	17442022	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:17442022C>G	ENST00000159087.4	-	7	864	c.706G>C	c.(706-708)Gac>Cac	p.D236H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	236					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.D236H(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCACAGATGTCATCTGCCAGG	0.572																																						uc002ngf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(706-708)GAC>CAC		anoctamin 8							75.0	80.0	78.0					19																	17442022		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17442022C>G	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.706G>C	19.37:g.17442022C>G	ENSP00000159087:p.Asp236His					ANO8_uc010eap.2_RNA	p.D236H	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			7	865	-			236			Extracellular (Potential).		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.706G>C	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049735	0.75846	.	.	ENSG00000074855	ENST00000159087	T	0.62364	0.03	4.87	4.87	0.63330	.	0.299229	0.35235	N	0.003360	T	0.65760	0.2722	M	0.65498	2.005	0.52501	D	0.999959	P	0.39044	0.656	P	0.44732	0.459	T	0.63152	-0.6701	10	0.22109	T	0.4	.	15.5387	0.76024	0.0:1.0:0.0:0.0	.	236	Q9HCE9	ANO8_HUMAN	H	236	ENSP00000159087:D236H	ENSP00000159087:D236H	D	-	1	0	ANO8	17303022	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	7.470000	0.80973	2.274000	0.75844	0.306000	0.20318	GAC		PASS	0.572	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		60	65	60	65	---	---	---	---
TM6SF2	53345	broad.mit.edu	37	19	19381156	19381156	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:19381156C>T	ENST00000389363.4	-	3	367	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TM6SF2_ENST00000586107.1_Intron|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	99						integral component of membrane (GO:0016021)		p.E99K(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CCAAGTACCTCCTTGGTGTAG	0.607																																						uc002nmd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GAG>AAG		transmembrane 6 superfamily member 2							44.0	47.0	46.0					19																	19381156		1996	4163	6159	SO:0001583	missense	53345					integral to membrane		g.chr19:19381156C>T	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.295G>A	19.37:g.19381156C>T	ENSP00000374014:p.Glu99Lys					HAPLN4_uc002nmc.2_5'UTR	p.E99K	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		3	345	-			99					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.295G>A	CCDS42528.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379377	0.82682	.	.	ENSG00000213996	ENST00000389363;ENST00000431465;ENST00000269990	T	0.28895	1.59	5.31	5.31	0.75309	.	0.207947	0.23360	U	0.049021	T	0.33818	0.0876	M	0.62016	1.91	0.41071	D	0.985457	B	0.32245	0.361	B	0.32864	0.154	T	0.09530	-1.0670	10	0.27082	T	0.32	-14.8292	16.4743	0.84128	0.0:1.0:0.0:0.0	.	99	Q9BZW4	TM6S2_HUMAN	K	99	ENSP00000374014:E99K	ENSP00000269990:E99K	E	-	1	0	TM6SF2	19242156	0.996000	0.38824	1.000000	0.80357	0.581000	0.36288	2.533000	0.45667	2.490000	0.84030	0.505000	0.49811	GAG		PASS	0.607	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		70	31	70	31	---	---	---	---
CBLC	23624	broad.mit.edu	37	19	45284515	45284515	+	Silent	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:45284515T>C	ENST00000270279.3	+	3	615	c.552T>C	c.(550-552)ccT>ccC	p.P184P	CBLC_ENST00000341505.4_Silent_p.P184P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	184	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P184P(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCTGCCACCCTGTGGAACCAG	0.652			M		AML																																	uc002ozs.2				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|skin(1)	6						c.(550-552)CCT>CCC		Cas-Br-M (murine) ecotropic retroviral							82.0	67.0	72.0					19																	45284515		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45284515T>C	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.552T>C	19.37:g.45284515T>C						CBLC_uc010ejt.2_Silent_p.P184P	p.P184P	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN			3	615	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	184			EF-hand-like.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.552T>C	CCDS12643.1																																																																																				PASS	0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		4	113	4	113	---	---	---	---
NKPD1	284353	broad.mit.edu	37	19	45656363	45656363	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:45656363C>T	ENST00000438936.2	-	3	877	c.666G>A	c.(664-666)ctG>ctA	p.L222L	NKPD1_ENST00000317951.4_Silent_p.L444L|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Silent_p.L222L|NKPD1_ENST00000589776.1_Silent_p.L222L			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	222	KAP NTPase.					integral component of membrane (GO:0016021)		p.L222L(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GGTAGATCTCCAGGAAGCACA	0.637																																						uc010xxi.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1330-1332)CTG>CTA		NTPase, KAP family P-loop domain containing 1							11.0	13.0	12.0					19																	45656363		2127	4245	6372	SO:0001819	synonymous_variant	284353							g.chr19:45656363C>T	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.666G>A	19.37:g.45656363C>T							p.L444L	NM_198478	NP_940880				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1332	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	ENST00000438936.2	37	c.1332G>A																																																																																					PASS	0.637	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		3	13	3	13	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54395051	54395051	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:54395051C>G	ENST00000263431.3	+	6	935	c.653C>G	c.(652-654)aCg>aGg	p.T218R	PRKCG_ENST00000542049.1_Missense_Mutation_p.T105R|PRKCG_ENST00000536044.1_Missense_Mutation_p.T218R|PRKCG_ENST00000540413.1_Missense_Mutation_p.T218R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	218	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.T218R(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTGAAAGCCACGCTAAACCCT	0.537																																						uc002qcq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(652-654)ACG>AGG		protein kinase C, gamma							132.0	99.0	110.0					19																	54395051		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395051C>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.653C>G	19.37:g.54395051C>G	ENSP00000263431:p.Thr218Arg					PRKCG_uc010eqz.1_Missense_Mutation_p.T218R|PRKCG_uc010yef.1_Missense_Mutation_p.T218R|PRKCG_uc010yeg.1_Missense_Mutation_p.T218R|PRKCG_uc010yeh.1_Missense_Mutation_p.T105R	p.T218R	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	6	935	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		218			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.653C>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554443	0.65425	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.75693	0.3884	M	0.92317	3.295	0.51482	D	0.999923	D;B;D;D;B	0.76494	0.999;0.121;0.997;0.973;0.11	D;B;D;P;B	0.72075	0.976;0.096;0.974;0.831;0.142	T	0.81473	-0.0917	9	0.62326	D	0.03	.	16.7114	0.85386	0.0:1.0:0.0:0.0	.	105;218;218;218;218	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	R	218;218;218;105	ENSP00000440541:T218R;ENSP00000443493:T218R;ENSP00000263431:T218R;ENSP00000438090:T105R	ENSP00000263431:T218R	T	+	2	0	PRKCG	59086863	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.341000	0.59335	2.628000	0.89032	0.561000	0.74099	ACG		PASS	0.537	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		35	93	35	93	---	---	---	---
ZIM3	114026	broad.mit.edu	37	19	57647047	57647047	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr19:57647047C>G	ENST00000269834.1	-	5	1043	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E220Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGGGCCTTTCCTCTGCGTGA	0.428																																						uc002qnz.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(658-660)GAA>CAA		zinc finger, imprinted 3							159.0	154.0	156.0					19																	57647047		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647047C>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.658G>C	19.37:g.57647047C>G	ENSP00000269834:p.Glu220Gln						p.E220Q	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1044	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	220					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.658G>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216982	0.22373	.	.	ENSG00000141946	ENST00000269834	T	0.25912	1.77	1.97	-0.276	0.12902	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38188	0.1031	L	0.60012	1.86	0.09310	N	1	D	0.58620	0.983	D	0.64237	0.923	T	0.17684	-1.0361	9	0.72032	D	0.01	.	5.6671	0.17700	0.0:0.6711:0.0:0.3289	.	220	Q96PE6	ZIM3_HUMAN	Q	220	ENSP00000269834:E220Q	ENSP00000269834:E220Q	E	-	1	0	ZIM3	62338859	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.377000	0.34317	-0.014000	0.14175	0.313000	0.20887	GAA		PASS	0.428	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			48	156	48	156	---	---	---	---
CST8	10047	broad.mit.edu	37	20	23472426	23472426	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:23472426C>T	ENST00000246012.1	+	2	479	c.122C>T	c.(121-123)tCa>tTa	p.S41L		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	41					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S41L(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTCAATGCCTCAAATGCCAAC	0.507																																						uc002wth.1																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)TCA>TTA		cystatin 8 precursor							212.0	190.0	197.0					20																	23472426		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472426C>T	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.122C>T	20.37:g.23472426C>T	ENSP00000246012:p.Ser41Leu						p.S41L	NM_005492	NP_005483	O60676	CST8_HUMAN			2	479	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		41					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.122C>T	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444733	0.63178	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.15603	2.57;2.41	4.15	4.15	0.48705	Proteinase inhibitor I25, cystatin (2);	0.229141	0.35179	N	0.003383	T	0.33411	0.0862	M	0.69523	2.12	0.09310	N	1	D	0.64830	0.994	P	0.58013	0.831	T	0.06391	-1.0829	10	0.51188	T	0.08	-0.0021	12.2318	0.54492	0.0:1.0:0.0:0.0	.	41	O60676	CST8_HUMAN	L	41	ENSP00000399144:S41L;ENSP00000246012:S41L	ENSP00000246012:S41L	S	+	2	0	CST8	23420426	0.083000	0.21467	0.010000	0.14722	0.001000	0.01503	2.785000	0.47782	2.600000	0.87896	0.655000	0.94253	TCA		PASS	0.507	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			59	116	59	116	---	---	---	---
TTPAL	79183	broad.mit.edu	37	20	43108970	43108970	+	Missense_Mutation	SNP	G	G	A	rs531053823	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:43108970G>A	ENST00000372904.3	+	3	474	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	TTPAL_ENST00000372906.2_Missense_Mutation_p.E111K|TTPAL_ENST00000262605.4_Missense_Mutation_p.E111K	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	111						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.E111K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCTGGCCCGAAGTCTTCAA	0.577													G|||	4	0.000798722	0.0	0.0	5008	,	,		18400	0.0		0.0	False		,,,				2504	0.0041					uc002xmc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(331-333)GAA>AAA		tocopherol (alpha) transfer protein-like							53.0	50.0	51.0					20																	43108970		2203	4300	6503	SO:0001583	missense	79183					intracellular	transporter activity	g.chr20:43108970G>A	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.331G>A	20.37:g.43108970G>A	ENSP00000361995:p.Glu111Lys					TTPAL_uc002xmd.1_Missense_Mutation_p.E111K|TTPAL_uc010ggr.1_5'UTR	p.E111K	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			3	455	+			111					E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	ENST00000372904.3	37	c.331G>A	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	G	33	5.234323	0.95207	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	4.95	4.95	0.65309	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	P	0.60415	0.874	D	0.93575	0.6907	10	0.62326	D	0.03	-21.6882	18.217	0.89889	0.0:0.0:1.0:0.0	.	111	Q9BTX7	TTPAL_HUMAN	K	111	ENSP00000262605:E111K;ENSP00000361995:E111K;ENSP00000361997:E111K;ENSP00000412720:E111K	ENSP00000262605:E111K	E	+	1	0	TTPAL	42542384	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.452000	0.97615	2.266000	0.75297	0.655000	0.94253	GAA		PASS	0.577	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		14	85	14	85	---	---	---	---
UBE2C	11065	broad.mit.edu	37	20	44444263	44444263	+	Silent	SNP	G	G	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:44444263G>A	ENST00000356455.4	+	4	420	c.300G>A	c.(298-300)acG>acA	p.T100T	UBE2C_ENST00000372568.4_Silent_p.T61T|UBE2C_ENST00000405520.1_Silent_p.T61T|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000352551.5_Silent_p.T71T|UBE2C_ENST00000496085.1_3'UTR	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	100					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.T100T(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGTTCCTCACGCCCTGCTATC	0.517																																						uc002xpm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(298-300)ACG>ACA		ubiquitin-conjugating enzyme E2C isoform 1							97.0	93.0	94.0					20																	44444263		2203	4300	6503	SO:0001819	synonymous_variant	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44444263G>A	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.300G>A	20.37:g.44444263G>A						UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.T61T|UBE2C_uc002xpo.2_Silent_p.T71T|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.T61T	p.T100T	NM_007019	NP_008950	O00762	UBE2C_HUMAN			4	380	+		Myeloproliferative disorder(115;0.0122)	100					A6NP33|E1P5N7|G3XAB7	Silent	SNP	ENST00000356455.4	37	c.300G>A	CCDS13370.1																																																																																				PASS	0.517	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019		20	124	20	124	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58416495	58416495	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:58416495C>T	ENST00000371015.1	+	11	1959	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	PHACTR3_ENST00000355648.4_Silent_p.L457L|PHACTR3_ENST00000361300.4_Silent_p.L387L|PHACTR3_ENST00000395639.4_Silent_p.L387L|PHACTR3_ENST00000359926.3_Silent_p.L495L|PHACTR3_ENST00000395636.2_Silent_p.L457L|PHACTR3_ENST00000541461.1_Silent_p.L457L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	498	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L498L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGAAAAATTCTGATACGATT	0.403																																						uc002yau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1492-1494)CTG>TTG		phosphatase and actin regulator 3 isoform 1							88.0	84.0	85.0					20																	58416495		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58416495C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1492C>T	20.37:g.58416495C>T						PHACTR3_uc002yat.2_Silent_p.L495L|PHACTR3_uc010zzw.1_Silent_p.L457L|PHACTR3_uc002yav.2_Silent_p.L457L|PHACTR3_uc002yaw.2_Silent_p.L457L|PHACTR3_uc002yax.2_Silent_p.L387L|PHACTR3_uc002yay.2_Silent_p.L67L	p.L498L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		11	1959	+	all_lung(29;0.00344)		498			Required for PP1CA binding and inhibition of PP1 activity.|RPEL 4.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.1492C>T	CCDS13480.1																																																																																				PASS	0.403	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		8	66	8	66	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60893681	60893681	+	Silent	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:60893681C>G	ENST00000252999.3	-	53	7134	c.7068G>C	c.(7066-7068)ctG>ctC	p.L2356L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2356	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L2356L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGAGGCTGCTCAGCTGCTCCT	0.667																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(7066-7068)CTG>CTC		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						22.0	29.0	26.0					20																	60893681		2179	4266	6445	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60893681C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7068G>C	20.37:g.60893681C>G							p.L2356L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		53	7135	-	Breast(26;1.57e-08)		2356			Domain II and I.|Potential.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.7068G>C	CCDS33502.1																																																																																				PASS	0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		23	29	23	29	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60893954	60893954	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:60893954C>T	ENST00000252999.3	-	52	7053	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2329	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.R2329R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCCCCAGGTCCCGGGCCCGCA	0.701																																						uc002ycq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(6985-6987)CGG>CGA		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						10.0	12.0	12.0					20																	60893954		2144	4251	6395	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60893954C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6987G>A	20.37:g.60893954C>T							p.R2329R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		52	7054	-	Breast(26;1.57e-08)		2329			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.6987G>A	CCDS33502.1																																																																																				PASS	0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	9	8	9	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61341012	61341012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:61341012C>A	ENST00000370501.3	+	1	824	c.453C>A	c.(451-453)tgC>tgA	p.C151*		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	151					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.C151*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCGACGCCTGCACCTACGCCA	0.667																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(451-453)TGC>TGA		neurotensin receptor 1							58.0	54.0	55.0					20																	61341012		2202	4299	6501	SO:0001587	stop_gained	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341012C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.453C>A	20.37:g.61341012C>A	ENSP00000359532:p.Cys151*						p.C151*	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	824	+	Breast(26;3.65e-08)		151			Helical; Name=3; (Potential).		Q9H4H1|Q9H4T5	Nonsense_Mutation	SNP	ENST00000370501.3	37	c.453C>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	42	9.800984	0.99267	.	.	ENSG00000101188	ENST00000370501	.	.	.	5.15	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-59.7067	13.1617	0.59548	0.0:0.9214:0.0:0.0786	.	.	.	.	X	151	.	ENSP00000359532:C151X	C	+	3	2	NTSR1	60811457	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.657000	0.83745	1.176000	0.42840	0.561000	0.74099	TGC		PASS	0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			19	41	19	41	---	---	---	---
RGS19	10287	broad.mit.edu	37	20	62705589	62705589	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr20:62705589C>T	ENST00000395042.1	-	5	636	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RGS19_ENST00000332298.5_Missense_Mutation_p.E124K|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	124	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E124K(1)		lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TTCAGCTCCTCGCAGGCCAAC	0.602																																						uc002yhy.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)GAG>AAG		G protein signalling regulator 19							93.0	77.0	82.0					20																	62705589		2203	4300	6503	SO:0001583	missense	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705589C>T	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.370G>A	20.37:g.62705589C>T	ENSP00000378483:p.Glu124Lys					RGS19_uc002yhz.2_Missense_Mutation_p.E102K|RGS19_uc002yia.2_Missense_Mutation_p.E124K|RGS19_uc002yib.2_Missense_Mutation_p.E124K	p.E124K	NM_005873	NP_005864	P49795	RGS19_HUMAN			5	637	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		124			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Missense_Mutation	SNP	ENST00000395042.1	37	c.370G>A	CCDS13555.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673766	0.96764	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	T;T	0.37235	1.21;1.21	4.91	4.91	0.64330	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	H	0.94183	3.505	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.80315	-0.1434	10	0.87932	D	0	.	18.2765	0.90085	0.0:1.0:0.0:0.0	.	124	P49795	RGS19_HUMAN	K	124	ENSP00000378483:E124K;ENSP00000333194:E124K	ENSP00000333194:E124K	E	-	1	0	RGS19	62176033	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.490000	0.81461	2.536000	0.85505	0.563000	0.77884	GAG		PASS	0.602	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		23	49	23	49	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	G	rs369222297		TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr21:41719705C>G	ENST00000400454.1	-	6	1579	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E368Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATAAGGTTTTCGTGGTTGATC	0.512																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1102-1104)GAA>CAA		Down syndrome cell adhesion molecule isoform							326.0	293.0	304.0					21																	41719705		1951	4150	6101	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719705C>G	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1102G>C	21.37:g.41719705C>G	ENSP00000383303:p.Glu368Gln					DSCAM_uc002yyr.1_RNA	p.E368Q	NM_001389	NP_001380	O60469	DSCAM_HUMAN			6	1554	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	368			Extracellular (Potential).|Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1102G>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747749	0.89663	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66815	-0.23;-0.23	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053392	0.64402	D	0.000001	T	0.76955	0.4060	L	0.50919	1.6	0.44201	D	0.99702	D	0.76494	0.999	D	0.81914	0.995	T	0.71981	-0.4428	10	0.19590	T	0.45	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	368	O60469	DSCAM_HUMAN	Q	368;120	ENSP00000383303:E368Q;ENSP00000385342:E120Q	ENSP00000383303:E368Q	E	-	1	0	DSCAM	40641575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.344000	0.79699	0.655000	0.94253	GAA		PASS	0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		107	181	107	181	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17071946	17071946	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr22:17071946C>T	ENST00000359963.3	-	1	1754	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	499					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.V499I(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGCTTTGACTATTAGGGTG	0.507																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1495-1497)GTC>ATC		T-complex protein 1							118.0	113.0	115.0					22																	17071946		2203	4297	6500	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071946C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1495G>A	22.37:g.17071946C>T	ENSP00000353048:p.Val499Ile						p.V499I	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1755	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	499					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1495G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.059	0.767803	0.15983	.	.	ENSG00000198445	ENST00000359963	D	0.83163	-1.69	1.98	1.98	0.26296	.	0.846477	0.09841	U	0.748861	T	0.78748	0.4332	L	0.43152	1.355	0.09310	N	0.999999	B	0.32302	0.363	B	0.39339	0.297	T	0.68435	-0.5409	10	0.44086	T	0.13	-4.7039	7.4423	0.27190	0.0:1.0:0.0:0.0	.	499	Q96SF2	TCPQM_HUMAN	I	499	ENSP00000353048:V499I	ENSP00000353048:V499I	V	-	1	0	CCT8L2	15451946	0.712000	0.27916	0.579000	0.28588	0.183000	0.23260	1.576000	0.36504	1.115000	0.41800	0.379000	0.24179	GTC		PASS	0.507	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			58	110	58	110	---	---	---	---
APOL2	23780	broad.mit.edu	37	22	36624152	36624152	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr22:36624152C>A	ENST00000249066.6	-	6	788	c.312G>T	c.(310-312)gaG>gaT	p.E104D	APOL2_ENST00000358502.5_Missense_Mutation_p.E104D|APOL2_ENST00000451256.2_Missense_Mutation_p.E216D	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	104					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.E104D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTCAACCTCCTCTGCAAGGG	0.547																																						uc003aoz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GAG>GAT		apolipoprotein L2							104.0	114.0	111.0					22																	36624152		2203	4300	6503	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624152C>A	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.312G>T	22.37:g.36624152C>A	ENSP00000249066:p.Glu104Asp					APOL2_uc011amm.1_Missense_Mutation_p.E216D|APOL2_uc003apa.2_Missense_Mutation_p.E104D	p.E104D	NM_030882	NP_112092	Q9BQE5	APOL2_HUMAN			5	648	-			104					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.312G>T	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449051	0.01080	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194	T;T;T;T	0.01414	4.92;4.92;4.92;4.92	3.66	-5.96	0.02234	.	0.371374	0.28921	N	0.013720	T	0.00300	0.0009	N	0.00246	-1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.36456	-0.9747	10	0.02654	T	1	.	1.269	0.02017	0.378:0.1415:0.3374:0.1431	.	216;104	B4E1T5;Q9BQE5	.;APOL2_HUMAN	D	104;104;216;104	ENSP00000351292:E104D;ENSP00000249066:E104D;ENSP00000403153:E216D;ENSP00000431231:E104D	ENSP00000249066:E104D	E	-	3	2	APOL2	34954098	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.136000	0.03222	-1.078000	0.03117	-1.886000	0.00541	GAG		PASS	0.547	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		4	89	4	89	---	---	---	---
CRELD2	79174	broad.mit.edu	37	22	50316902	50316902	+	Missense_Mutation	SNP	G	G	A	rs143760812	byFrequency	TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chr22:50316902G>A	ENST00000328268.4	+	7	783	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000404488.3_Missense_Mutation_p.E286K|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.E237K	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	237						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.E237K(1)|p.E286K(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGCGGCCGAGCCGCCTCC	0.692													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		11105	0.0		0.0	False		,,,				2504	0.0					uc003bja.2																			2	Substitution - Missense(2)		lung(2)		0						c.(709-711)GAG>AAG		cysteine-rich with EGF-like domains 2 isoform b		G	LYS/GLU,LYS/GLU	31,4367		0,31,2168	19.0	22.0	21.0		856,709	4.6	0.0	22	dbSNP_134	21	0,8586		0,0,4293	yes	missense,missense	CRELD2	NM_001135101.1,NM_024324.3	56,56	0,31,6461	AA,AG,GG		0.0,0.7049,0.2388	probably-damaging,probably-damaging	286/403,237/354	50316902	31,12953	2199	4293	6492	SO:0001583	missense	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50316902G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.709G>A	22.37:g.50316902G>A	ENSP00000332223:p.Glu237Lys					CRELD2_uc003biz.3_Missense_Mutation_p.E237K|CRELD2_uc010haj.2_Missense_Mutation_p.E237K|CRELD2_uc010hal.2_Missense_Mutation_p.E286K|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Missense_Mutation_p.E237K	p.E237K	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	7	844	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	237			FU 1.		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	c.709G>A	CCDS14082.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	22.1	4.245146	0.79912	0.007049	0.0	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217	T;T;D	0.92048	0.64;0.42;-2.96	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);	0.190258	0.44285	D	0.000472	D	0.88596	0.6479	N	0.17345	0.48	0.80722	D	1	D;D;D;D;D	0.76494	0.989;0.998;0.976;0.999;0.995	P;P;B;P;P	0.62298	0.708;0.9;0.427;0.73;0.63	D	0.89662	0.3877	10	0.36615	T	0.2	.	16.1199	0.81342	0.0:0.0:1.0:0.0	.	237;286;237;237;237	Q6UXH1-2;Q6UXH1-5;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;CREL2_HUMAN;.	K	286;237;237	ENSP00000383938:E286K;ENSP00000332223:E237K;ENSP00000386034:E237K	ENSP00000332223:E237K	E	+	1	0	CRELD2	48702906	1.000000	0.71417	0.023000	0.16930	0.008000	0.06430	8.125000	0.89590	2.072000	0.62099	0.585000	0.79938	GAG		PASS	0.692	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		23	19	23	19	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3248135	3248135	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:3248135A>T	ENST00000217939.6	-	4	787	c.633T>A	c.(631-633)aaT>aaA	p.N211K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	211						extracellular vesicular exosome (GO:0070062)		p.N211K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAAGTAAAGATTCTCCAGAA	0.468																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(631-633)AAT>AAA		adlican precursor							66.0	58.0	60.0					X																	3248135		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3248135A>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.633T>A	X.37:g.3248135A>T	ENSP00000217939:p.Asn211Lys						p.N211K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	790	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	211					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.633T>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961866	0.34659	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02280	4.36	3.56	-6.28	0.02020	.	0.000000	0.40554	U	0.001072	T	0.02610	0.0079	N	0.21324	0.655	0.22500	N	0.999041	D	0.60160	0.987	P	0.54544	0.755	T	0.09640	-1.0665	10	0.72032	D	0.01	.	9.437	0.38646	0.7064:0.1084:0.1851:0.0	.	211	Q9NR99	MXRA5_HUMAN	K	211	ENSP00000217939:N211K	ENSP00000217939:N211K	N	-	3	2	MXRA5	3258135	0.995000	0.38212	0.000000	0.03702	0.219000	0.24729	0.217000	0.17603	-1.595000	0.01613	-1.035000	0.02400	AAT		PASS	0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		8	28	8	28	---	---	---	---
ACE2	59272	broad.mit.edu	37	X	15609979	15609979	+	Splice_Site	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:15609979C>A	ENST00000252519.3	-	4	542	c.440G>T	c.(439-441)gGt>gTt	p.G147V	ACE2_ENST00000427411.1_Splice_Site_p.G147V			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	147					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G147V(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TTCATTCAAACCTGTTATCCC	0.378																																						uc004cxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(439-441)GGT>GTT		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						143.0	143.0	143.0					X																	15609979		2203	4299	6502	SO:0001630	splice_region_variant	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609979C>A	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.440-1G>T	X.37:g.15609979C>A						ACE2_uc004cxb.2_Missense_Mutation_p.G147V	p.G147V	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			4	608	-	Hepatocellular(33;0.183)		147			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.440G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162839	0.38217	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.36157	1.27;1.27	6.14	4.37	0.52481	.	0.053037	0.85682	D	0.000000	T	0.62196	0.2408	M	0.86740	2.835	0.54753	D	0.999982	D	0.54964	0.969	D	0.66979	0.948	T	0.66236	-0.5974	10	0.72032	D	0.01	.	11.6387	0.51220	0.0:0.811:0.1211:0.0679	.	147	Q9BYF1	ACE2_HUMAN	V	147	ENSP00000252519:G147V;ENSP00000389326:G147V	ENSP00000252519:G147V	G	-	2	0	ACE2	15519900	1.000000	0.71417	0.674000	0.29902	0.007000	0.05969	5.245000	0.65405	0.711000	0.32018	-0.195000	0.12781	GGT		PASS	0.378	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		Missense_Mutation	102	191	102	191	---	---	---	---
SSX7	280658	broad.mit.edu	37	X	52681966	52681966	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:52681966G>C	ENST00000298181.5	-	3	296	c.138C>G	c.(136-138)atC>atG	p.I46M		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	46	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.I46M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACACATAGCTGATTTTCTCCA	0.373																																						uc004dqx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(136-138)ATC>ATG		synovial sarcoma, X breakpoint 7							190.0	147.0	161.0					X																	52681966		2203	4299	6502	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681966G>C	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.138C>G	X.37:g.52681966G>C	ENSP00000298181:p.Ile46Met						p.I46M	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			3	297	-	Ovarian(276;0.236)		46			KRAB-related.			Missense_Mutation	SNP	ENST00000298181.5	37	c.138C>G	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	7.231	0.599408	0.13939	.	.	ENSG00000187754	ENST00000298181	T	0.00824	5.65	0.56	-0.623	0.11556	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.262020	0.05580	N	0.572772	T	0.04318	0.0119	M	0.75447	2.3	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.32851	-0.9891	9	0.54805	T	0.06	.	.	.	.	.	46	Q7RTT5	SSX7_HUMAN	M	46	ENSP00000298181:I46M	ENSP00000298181:I46M	I	-	3	3	SSX7	52698691	0.002000	0.14202	0.002000	0.10522	0.014000	0.08584	0.075000	0.14686	-0.343000	0.08351	0.174000	0.16983	ATC		PASS	0.373	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		46	101	46	101	---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54359719	54359719	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:54359719C>T	ENST00000375159.2	-	1	387	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	WNK3_ENST00000354646.2_Missense_Mutation_p.E130K|WNK3_ENST00000375169.3_Missense_Mutation_p.E130K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	130					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E130K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTCTTCTTCCATTTCCTTT	0.358																																						uc004dtd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(388-390)GAA>AAA		WNK lysine deficient protein kinase 3 isoform 2							114.0	97.0	103.0					X																	54359719		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359719C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.388G>A	X.37:g.54359719C>T	ENSP00000364301:p.Glu130Lys					WNK3_uc004dtc.1_Missense_Mutation_p.E130K	p.E130K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			2	827	-			130					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.388G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691307	0.88735	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159;ENST00000458404	T;T;T	0.71698	-0.56;-0.59;-0.59	5.4	5.4	0.78164	.	0.000000	0.56097	D	0.000036	T	0.75287	0.3829	L	0.27053	0.805	0.50313	D	0.999868	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.967	T	0.73519	-0.3957	10	0.29301	T	0.29	-16.6753	16.9137	0.86146	0.0:1.0:0.0:0.0	.	130;130	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	130	ENSP00000364312:E130K;ENSP00000346667:E130K;ENSP00000364301:E130K	ENSP00000346667:E130K	E	-	1	0	WNK3	54376444	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.521000	0.81832	2.256000	0.74724	0.422000	0.28245	GAA		PASS	0.358	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		21	73	21	73	---	---	---	---
DGAT2L6	347516	broad.mit.edu	37	X	69420307	69420307	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:69420307T>C	ENST00000333026.3	+	4	570	c.470T>C	c.(469-471)aTg>aCg	p.M157T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	157					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.M157T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGATGTCAATGGGTGAGTAT	0.398																																						uc004dxx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)ATG>ACG		diacylglycerol O-acyltransferase 2-like 6							78.0	65.0	70.0					X																	69420307		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420307T>C	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.470T>C	X.37:g.69420307T>C	ENSP00000328036:p.Met157Thr						p.M157T	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			4	567	+			157					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.470T>C	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	T	0.714	-0.785983	0.02907	.	.	ENSG00000184210	ENST00000333026	D	0.92965	-3.14	5.15	3.92	0.45320	.	0.521379	0.20235	N	0.096418	D	0.86209	0.5878	L	0.52573	1.65	0.26234	N	0.978969	B	0.09022	0.002	B	0.15484	0.013	T	0.70619	-0.4822	10	0.21014	T	0.42	-12.7625	4.4706	0.11710	0.2077:0.0:0.1829:0.6094	.	157	Q6ZPD8	DG2L6_HUMAN	T	157	ENSP00000328036:M157T	ENSP00000328036:M157T	M	+	2	0	DGAT2L6	69337032	1.000000	0.71417	0.967000	0.41034	0.268000	0.26511	4.064000	0.57506	1.911000	0.55334	0.486000	0.48141	ATG		PASS	0.398	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		12	50	12	50	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69615553	69615553	+	Silent	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:69615553C>T	ENST00000374403.3	+	21	2347	c.2265C>T	c.(2263-2265)gtC>gtT	p.V755V	KIF4A_ENST00000374388.3_Silent_p.V755V|RNY4P23_ENST00000364507.1_RNA	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	755	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V755V(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGGTTATGGTCAGTACTGAGG	0.443																																						uc004dyg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2263-2265)GTC>GTT		kinesin family member 4							76.0	64.0	68.0					X																	69615553		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69615553C>T	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2265C>T	X.37:g.69615553C>T						KIF4A_uc010nkw.2_Silent_p.V755V	p.V755V	NM_012310	NP_036442	O95239	KIF4A_HUMAN			21	2392	+			755			Potential.|Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.2265C>T	CCDS14401.1																																																																																				PASS	0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		11	64	11	64	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70466282	70466282	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:70466282C>G	ENST00000353904.2	-	15	2680	c.2493G>C	c.(2491-2493)aaG>aaC	p.K831N	ZMYM3_ENST00000314425.5_Missense_Mutation_p.K831N|ZMYM3_ENST00000373998.1_Missense_Mutation_p.K819N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K833N|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K833N|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	831					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K831N(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATGGCAGCCTTGTTTTTGC	0.572																																						uc004dzh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2491-2493)AAG>AAC		zinc finger protein 261							52.0	39.0	44.0					X																	70466282		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466282C>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2493G>C	X.37:g.70466282C>G	ENSP00000343909:p.Lys831Asn					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.K831N|ZMYM3_uc004dzj.1_Missense_Mutation_p.K819N	p.K831N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			15	2580	-	Renal(35;0.156)		831					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.2493G>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.764200	0.49574	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.61040	0.79;0.14;0.79;0.78;0.79	4.52	3.25	0.37280	.	0.000000	0.64402	D	0.000003	T	0.71367	0.3331	M	0.74467	2.265	0.41194	D	0.986328	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71244	-0.4650	10	0.87932	D	0	-7.543	7.6205	0.28183	0.0:0.1799:0.0:0.8201	.	819;831	Q14202-2;Q14202	.;ZMYM3_HUMAN	N	831;819;831;833;833	ENSP00000322845:K831N;ENSP00000363110:K819N;ENSP00000343909:K831N;ENSP00000363096:K833N;ENSP00000363100:K833N	ENSP00000322845:K831N	K	-	3	2	ZMYM3	70383007	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.170000	0.31883	0.581000	0.29539	-0.513000	0.04457	AAG		PASS	0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		9	45	9	45	---	---	---	---
RPA4	29935	broad.mit.edu	37	X	96139743	96139743	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:96139743T>C	ENST00000373040.3	+	1	837	c.434T>C	c.(433-435)aTt>aCt	p.I145T	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	145					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTATTGAAAATTCATGTCCTA	0.448								Other identified genes with known or suspected DNA repair function																														uc004efv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)ATT>ACT	Other_identified_genes_with_known_or_suspected_DNA_repair_function	replication protein A4, 34kDa							118.0	102.0	108.0					X																	96139743		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139743T>C	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.434T>C	X.37:g.96139743T>C	ENSP00000362131:p.Ile145Thr					DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	p.I145T	NM_013347	NP_037479	Q13156	RFA4_HUMAN			1	732	+			145					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.434T>C	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149501	0.37923	.	.	ENSG00000204086	ENST00000373040	T	0.29655	1.56	3.81	2.65	0.31530	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.	.	.	.	T	0.44871	0.1314	L	0.54965	1.715	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.18935	-1.0321	9	0.87932	D	0	-18.273	5.0527	0.14516	0.0:0.1343:0.0:0.8657	.	145	Q13156	RFA4_HUMAN	T	145	ENSP00000362131:I145T	ENSP00000362131:I145T	I	+	2	0	RPA4	96026399	0.083000	0.21467	0.001000	0.08648	0.002000	0.02628	1.786000	0.38694	0.647000	0.30713	0.486000	0.48141	ATT		PASS	0.448	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		20	88	20	88	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195573	111195573	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:111195573C>T	ENST00000262839.2	-	2	994	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	26					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E26K(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTCTGTCTCAGCCCTCACA	0.517																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(76-78)GAG>AAG		transient receptor potential cation channel,							90.0	72.0	79.0					X																	111195573		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195573C>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.76G>A	X.37:g.111195573C>T	ENSP00000262839:p.Glu26Lys					TRPC5_uc004epm.1_Missense_Mutation_p.E26K	p.E26K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	995	-			26			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.76G>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917210	0.92249	.	.	ENSG00000072315	ENST00000262839	T	0.70399	-0.48	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69654	0.965;0.965	T	0.75830	-0.3179	10	0.35671	T	0.21	-16.8485	18.5915	0.91214	0.0:1.0:0.0:0.0	.	27;26	Q59G51;Q9UL62	.;TRPC5_HUMAN	K	26	ENSP00000262839:E26K	ENSP00000262839:E26K	E	-	1	0	TRPC5	111082229	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.818000	0.86416	2.333000	0.79357	0.600000	0.82982	GAG		PASS	0.517	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		23	103	23	103	---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698850	111698850	+	Silent	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:111698850T>G	ENST00000340433.2	+	1	1124	c.894T>G	c.(892-894)tcT>tcG	p.S298S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	298							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S298S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAACGTTCTCGAGCTCCGG	0.493																																						uc004epo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(892-894)TCT>TCG		zinc finger, CCHC domain containing 16							45.0	42.0	43.0					X																	111698850		2203	4300	6503	SO:0001819	synonymous_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111698850T>G	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.894T>G	X.37:g.111698850T>G							p.S298S	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1335	+			298					B2RPG1	Silent	SNP	ENST00000340433.2	37	c.894T>G	CCDS35369.1																																																																																				PASS	0.493	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		5	55	5	55	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117764395	117764395	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:117764395G>C	ENST00000276202.7	+	35	3891	c.3828G>C	c.(3826-3828)caG>caC	p.Q1276H	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q1276H	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1276					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1276H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCTGGATCAGTATGAAATCA	0.403																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3826-3828)CAG>CAC		dedicator of cytokinesis 11							172.0	162.0	165.0					X																	117764395		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117764395G>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3828G>C	X.37:g.117764395G>C	ENSP00000276202:p.Gln1276His					DOCK11_uc004eqq.2_Missense_Mutation_p.Q1055H	p.Q1276H	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			35	3891	+			1276					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3828G>C	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052449	0.55218	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19532	2.14;2.14	5.43	0.701	0.18104	.	0.395712	0.28544	N	0.014968	T	0.32823	0.0842	M	0.71581	2.175	0.45528	D	0.998489	D;D	0.65815	0.995;0.995	D;D	0.64687	0.928;0.928	T	0.10520	-1.0626	10	0.41790	T	0.15	-5.3449	2.1686	0.03844	0.3491:0.1144:0.4178:0.1187	.	1276;1276	A6NIW2;Q5JSL3	.;DOC11_HUMAN	H	1276	ENSP00000276204:Q1276H;ENSP00000276202:Q1276H	ENSP00000276202:Q1276H	Q	+	3	2	DOCK11	117648423	1.000000	0.71417	0.983000	0.44433	0.987000	0.75469	0.796000	0.26986	-0.231000	0.09825	-0.312000	0.09012	CAG		PASS	0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		30	256	30	256	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182719	120182719	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:120182719C>A	ENST00000328078.1	+	1	1258	c.1181C>A	c.(1180-1182)cCc>cAc	p.P394H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	394					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.P394H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCCAACGCACCCAGAGTCAAA	0.483																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1180-1182)CCC>CAC		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						197.0	181.0	186.0					X																	120182719		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182719C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1181C>A	X.37:g.120182719C>A	ENSP00000327589:p.Pro394His						p.P394H	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1258	+			394					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1181C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941814	0.02322	.	.	ENSG00000182890	ENST00000328078	D	0.96427	-4.01	1.7	-0.767	0.11016	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.291398	0.38272	N	0.001749	D	0.86351	0.5912	N	0.10837	0.055	0.28387	N	0.919275	B	0.06786	0.001	B	0.08055	0.003	T	0.75714	-0.3221	10	0.19590	T	0.45	-7.2825	3.0553	0.06182	0.531:0.2955:0.0:0.1734	.	394	P49448	DHE4_HUMAN	H	394	ENSP00000327589:P394H	ENSP00000327589:P394H	P	+	2	0	GLUD2	120010400	0.905000	0.30787	0.682000	0.30024	0.672000	0.39443	0.532000	0.23067	-0.271000	0.09272	0.472000	0.43445	CCC		PASS	0.483	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		57	234	57	234	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123515073	123515073	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:123515073C>T	ENST00000371130.3	-	31	7554	c.7491G>A	c.(7489-7491)atG>atA	p.M2497I	TENM1_ENST00000422452.2_Missense_Mutation_p.M2504I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2497					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M2499I(1)									ATCGGGGAGTCATAGGTAGTT	0.468																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7489-7491)ATG>ATA		odz, odd Oz/ten-m homolog 1 isoform 3							134.0	129.0	131.0					X																	123515073		2201	4298	6499	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123515073C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7491G>A	X.37:g.123515073C>T	ENSP00000360171:p.Met2497Ile					ODZ1_uc011muj.1_Missense_Mutation_p.M2503I|ODZ1_uc010nqy.2_Missense_Mutation_p.M2504I	p.M2497I	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7555	-			2497			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7491G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051813	0.36181	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85088	-1.94;-1.91	5.83	5.83	0.93111	.	0.040415	0.85682	D	0.000000	T	0.79003	0.4373	L	0.34521	1.04	0.80722	D	1	B;B;B	0.34241	0.176;0.176;0.444	B;B;B	0.28011	0.028;0.041;0.085	T	0.76591	-0.2903	10	0.32370	T	0.25	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2503;2504;2497	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	2497;2504	ENSP00000360171:M2497I;ENSP00000403954:M2504I	ENSP00000360171:M2497I	M	-	3	0	ODZ1	123342754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.581000	0.67471	2.460000	0.83146	0.600000	0.82982	ATG		PASS	0.468	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		43	225	43	225	---	---	---	---
F9	2158	broad.mit.edu	37	X	138643729	138643729	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5035-01A-01D-1441-08	TCGA-39-5035-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	035fe73e-56b4-4afe-b70e-dd3c34027f2d	8b2bd323-6573-4816-8f89-dde6eb48738d	g.chrX:138643729T>G	ENST00000218099.2	+	8	892	c.885T>G	c.(883-885)aaT>aaG	p.N295K	F9_ENST00000394090.2_Missense_Mutation_p.N257K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	295	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.N295K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AAAAGCGAAATGTGATTCGAA	0.348																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(883-885)AAT>AAG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						163.0	139.0	147.0					X																	138643729		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643729T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.885T>G	X.37:g.138643729T>G	ENSP00000218099:p.Asn295Lys					F9_uc004fat.1_Missense_Mutation_p.N257K	p.N295K	NM_000133	NP_000124	P00740	FA9_HUMAN			8	914	+	Acute lymphoblastic leukemia(192;0.000127)		295			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.885T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	8.102	0.776771	0.16120	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.87571	-2.27;-2.27	5.42	-0.0399	0.13874	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.885835	0.10158	N	0.708698	T	0.67420	0.2891	N	0.11560	0.145	0.22412	N	0.999126	B;B	0.14438	0.01;0.003	B;B	0.21360	0.034;0.016	T	0.51834	-0.8655	10	0.11182	T	0.66	.	0.3629	0.00367	0.2539:0.2618:0.1442:0.3401	.	257;295	Q5FBE1;P00740	.;FA9_HUMAN	K	295;257	ENSP00000218099:N295K;ENSP00000377650:N257K	ENSP00000218099:N295K	N	+	3	2	F9	138471395	0.000000	0.05858	0.978000	0.43139	0.987000	0.75469	-2.708000	0.00819	-0.390000	0.07774	0.441000	0.28932	AAT		PASS	0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			34	108	34	108	---	---	---	---
