#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
MTOR	2475	broad.mit.edu	37	1	11193214	11193215	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:11193214_11193215CC>AG	ENST00000361445.4	-	38	5362_5363	c.5286_5287GG>CT	c.(5284-5289)caGGgc>caCTgc	p.1762_1763QG>HC	MTOR_ENST00000376838.1_5'Flank|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1762	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.Q1762H(1)|p.G1763C(1)|p.Q1762_G1763>HC(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCATTGATGCCCTGTAGATTCA	0.54																																						uc001asd.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						c.(5287-5289)GGC>TGC|c.(5284-5286)CAG>CAC		FK506 binding protein 12-rapamycin associated																																				SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11193214C>A|g.chr1:11193215C>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5286_5287delinsAG	1.37:g.11193214_11193215delinsAG	ENSP00000354558:p.Q1762_G1763delinsHC					MTOR_uc001asc.2_5'Flank	p.G1763C|p.Q1762H	NM_004958	NP_004949	P42345	MTOR_HUMAN			38	5408|5407	-			1763|1762			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5287G>T|c.5286G>C	CCDS127.1																																																																																				PASS	0.540	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		23	78|77	23	77	---	---	---	---
TAS1R2	80834	broad.mit.edu	37	1	19181214	19181214	+	Silent	SNP	C	C	T	rs146100319		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:19181214C>T	ENST00000375371.3	-	3	771	c.750G>A	c.(748-750)acG>acA	p.T250T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	250					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.T250T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCTCCTCTGACGTCATGTTCT	0.652																																						uc001bba.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(748-750)ACG>ACA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)	C		2,4404	4.2+/-10.8	0,2,2201	57.0	51.0	53.0		750	0.9	0.0	1	dbSNP_134	53	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TAS1R2	NM_152232.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		250/840	19181214	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181214C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.750G>A	1.37:g.19181214C>T							p.T250T	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	751	-		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)	250			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.750G>A	CCDS187.1																																																																																				PASS	0.652	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			5	24	5	24	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22927417	22927417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:22927417C>A	ENST00000166244.3	+	15	2637	c.2565C>A	c.(2563-2565)taC>taA	p.Y855*		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	855	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Y855*(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAGGGGTACCGCCTGCCCG	0.701																																						uc001bfx.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2563-2565)TAC>TAA		ephrin receptor EphA8 isoform 1 precursor							45.0	49.0	47.0					1																	22927417		2203	4297	6500	SO:0001587	stop_gained	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927417C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2565C>A	1.37:g.22927417C>A	ENSP00000166244:p.Tyr855*						p.Y855*	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2690	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	855			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Nonsense_Mutation	SNP	ENST00000166244.3	37	c.2565C>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	c	39	7.865548	0.98534	.	.	ENSG00000070886	ENST00000166244	.	.	.	4.92	4.0	0.46444	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2081	0.48782	0.0:0.9087:0.0:0.0913	.	.	.	.	X	855	.	ENSP00000166244:Y855X	Y	+	3	2	EPHA8	22800004	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.929000	0.56514	1.275000	0.44379	0.556000	0.70494	TAC		PASS	0.701	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		22	54	22	54	---	---	---	---
PITHD1	57095	broad.mit.edu	37	1	24113866	24113866	+	Nonstop_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:24113866A>T	ENST00000246151.4	+	6	747	c.636A>T	c.(634-636)taA>taT	p.*212Y	PITHD1_ENST00000374524.1_Nonstop_Mutation_p.*99Y	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	0						nucleus (GO:0005634)		p.*212Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TTATTTCCTAAGGGCTGGCCA	0.542																																						uc001bhq.2																			1	Nonstop extension(1)		lung(1)		0						c.(634-636)TAA>TAT		chromosome 1 open reading frame 128							74.0	67.0	70.0					1																	24113866		2203	4300	6503	SO:0001578	stop_lost	57095							g.chr1:24113866A>T		CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.636A>T	1.37:g.24113866A>T	ENSP00000246151:p.*212Tyrext*13					C1orf128_uc010oeb.1_Nonstop_Mutation_p.*119Y	p.*212Y	NM_020362	NP_065095	Q9GZP4	PITH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	6	766	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	212					B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Nonstop_Mutation	SNP	ENST00000246151.4	37	c.636A>T	CCDS240.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.104860	0.56291	.	.	ENSG00000057757	ENST00000246151;ENST00000374524	.	.	.	5.75	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5416	0.50669	0.9303:0.0:0.0697:0.0	.	.	.	.	Y	212;99	.	.	X	+	3	2	PITHD1	23986453	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	4.365000	0.59486	1.006000	0.39211	0.533000	0.62120	TAA		PASS	0.542	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008243.1	NM_020362		14	62	14	62	---	---	---	---
CNR2	1269	broad.mit.edu	37	1	24202075	24202075	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:24202075A>T	ENST00000374472.4	-	2	194	c.33T>A	c.(31-33)aaT>aaA	p.N11K	CNR2_ENST00000536471.1_Missense_Mutation_p.N11K	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	11					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.N11K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CCTTGGAGCCATTGGCTATCT	0.512																																						uc001bif.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(31-33)AAT>AAA		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						99.0	105.0	103.0					1																	24202075		2202	4299	6501	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24202075A>T	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.33T>A	1.37:g.24202075A>T	ENSP00000363596:p.Asn11Lys						p.N11K	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	160	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	11			Extracellular (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.33T>A	CCDS245.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310418	0.60414	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.64085	-0.08;-0.08	6.04	-3.8	0.04307	.	2.015770	0.02016	N	0.047392	T	0.75384	0.3842	M	0.61703	1.905	0.09310	N	1	P	0.51449	0.945	P	0.57911	0.829	T	0.72239	-0.4351	10	0.87932	D	0	.	16.8473	0.85984	0.3344:0.0:0.6656:0.0	.	11	P34972	CNR2_HUMAN	K	11	ENSP00000363596:N11K;ENSP00000442830:N11K	ENSP00000363596:N11K	N	-	3	2	CNR2	24074662	0.000000	0.05858	0.169000	0.22859	0.960000	0.62799	-0.750000	0.04808	-0.714000	0.04975	0.459000	0.35465	AAT		PASS	0.512	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		29	154	29	154	---	---	---	---
SESN2	83667	broad.mit.edu	37	1	28601391	28601391	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:28601391G>T	ENST00000253063.3	+	8	1397	c.1076G>T	c.(1075-1077)gGt>gTt	p.G359V		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	359					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G359V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TACCCTGAGGGTGGGCAGCTG	0.572																																						uc001bps.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(1075-1077)GGT>GTT		sestrin 2							100.0	91.0	94.0					1																	28601391		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601391G>T	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1076G>T	1.37:g.28601391G>T	ENSP00000253063:p.Gly359Val						p.G359V	NM_031459	NP_113647	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1429	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	359					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1076G>T	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	5.617	0.298478	0.10622	.	.	ENSG00000130766	ENST00000253063	T	0.17854	2.25	5.34	4.37	0.52481	.	0.105893	0.64402	D	0.000008	T	0.05135	0.0137	N	0.01649	-0.78	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.27938	-1.0059	10	0.02654	T	1	-13.8065	10.9348	0.47239	0.0:0.0:0.6545:0.3455	.	359	P58004	SESN2_HUMAN	V	359	ENSP00000253063:G359V	ENSP00000253063:G359V	G	+	2	0	SESN2	28473978	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.314000	0.65804	2.488000	0.83962	0.655000	0.94253	GGT		PASS	0.572	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			23	86	23	86	---	---	---	---
STK40	83931	broad.mit.edu	37	1	36820883	36820883	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:36820883T>A	ENST00000373129.3	-	6	900	c.494A>T	c.(493-495)aAg>aTg	p.K165M	STK40_ENST00000373132.3_Missense_Mutation_p.K165M|STK40_ENST00000373130.3_Missense_Mutation_p.K170M|STK40_ENST00000482458.1_5'Flank|STK40_ENST00000359297.2_Missense_Mutation_p.K165M	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K165M(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCTCTTCTCCTTGATGACGTA	0.582																																						uc001cak.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(493-495)AAG>ATG		serine/threonine kinase 40							223.0	191.0	202.0					1																	36820883		2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36820883T>A	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.494A>T	1.37:g.36820883T>A	ENSP00000362221:p.Lys165Met					STK40_uc001cal.1_Missense_Mutation_p.K170M|STK40_uc001cam.1_Missense_Mutation_p.K165M|STK40_uc009vva.1_Missense_Mutation_p.K165M|STK40_uc001can.1_Missense_Mutation_p.K165M	p.K165M	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN			6	901	-		Myeloproliferative disorder(586;0.0393)	165			Protein kinase.		D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.494A>T	CCDS407.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699827	0.88924	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.77406	2.37	0.53005	D	0.999962	D;D;D	0.67145	0.995;0.995;0.996	P;P;D	0.64042	0.871;0.871;0.921	D	0.83528	0.0089	10	0.87932	D	0	-27.319	15.5076	0.75753	0.0:0.0:0.0:1.0	.	165;170;165	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	M	165;165;170;165	ENSP00000362221:K165M;ENSP00000352245:K165M;ENSP00000362222:K170M;ENSP00000362224:K165M	ENSP00000352245:K165M	K	-	2	0	STK40	36593470	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.659000	0.83766	2.259000	0.74868	0.374000	0.22700	AAG		PASS	0.582	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		53	134	53	134	---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45796905	45796905	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:45796905C>A	ENST00000372098.3	-	14	1549	c.1416G>T	c.(1414-1416)tgG>tgT	p.W472C	MUTYH_ENST00000528013.2_Missense_Mutation_p.W461C|MUTYH_ENST00000372100.5_Missense_Mutation_p.W458C|MUTYH_ENST00000488731.2_Missense_Mutation_p.W142C|MUTYH_ENST00000355498.2_Missense_Mutation_p.W447C|MUTYH_ENST00000448481.1_Missense_Mutation_p.W458C|MUTYH_ENST00000372115.3_Missense_Mutation_p.W461C|MUTYH_ENST00000450313.1_Missense_Mutation_p.W475C|MUTYH_ENST00000456914.2_Missense_Mutation_p.W447C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.W447C|MUTYH_ENST00000372110.3_Missense_Mutation_p.W462C|MUTYH_ENST00000529984.1_Missense_Mutation_p.W142C|MUTYH_ENST00000354383.6_Missense_Mutation_p.W448C|MUTYH_ENST00000528332.2_Missense_Mutation_p.W156C			Q9UIF7	MUTYH_HUMAN	mutY homolog	472	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.W472C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCTGCGTCAGCCAGCGAGCAC	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			1	Substitution - Missense(1)		lung(1)		0						c.(1414-1416)TGG>TGT	BER_DNA_glycosylases	mutY homolog isoform 1							109.0	109.0	109.0					1																	45796905		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796905C>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1416G>T	1.37:g.45796905C>A	ENSP00000361170:p.Trp472Cys					MUTYH_uc009vxn.2_Missense_Mutation_p.W297C|MUTYH_uc001cnf.2_Missense_Mutation_p.W447C|MUTYH_uc009vxo.2_Missense_Mutation_p.W447C|MUTYH_uc001cng.2_Missense_Mutation_p.W458C|MUTYH_uc001cnj.2_Missense_Mutation_p.W355C|MUTYH_uc001cni.2_Missense_Mutation_p.W447C|MUTYH_uc001cnh.2_Missense_Mutation_p.W448C|MUTYH_uc001cno.2_Missense_Mutation_p.W355C|MUTYH_uc001cnk.2_Missense_Mutation_p.W332C|MUTYH_uc010oll.1_Missense_Mutation_p.W156C|MUTYH_uc001cnl.2_Missense_Mutation_p.W461C|MUTYH_uc009vxp.2_Missense_Mutation_p.W475C|MUTYH_uc001cnn.2_Missense_Mutation_p.W462C	p.W472C	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			14	1632	-	Acute lymphoblastic leukemia(166;0.155)		472			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.1416G>T	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.411974|2.411974	0.42817|0.42817	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.94330	.|-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	5.16|5.16	5.16|5.16	0.70880|0.70880	.|NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97486|0.97486	0.9177|0.9177	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.998;0.997;0.999;0.997;0.998;0.998;0.998	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.973;0.982;0.982;0.982;0.96;0.989;0.983	D|D	0.98404|0.98404	1.0569|1.0569	5|10	.|0.87932	.|D	.|0	-14.4944|-14.4944	18.6575|18.6575	0.91459|0.91459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;475;472;462;472;461;355;448	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	V|C	139|142;156;447;458;447;448;447;472;462;461;142;475;458	.|ENSP00000437093:W142C;ENSP00000433076:W156C;ENSP00000361176:W447C;ENSP00000409718:W458C;ENSP00000407590:W447C;ENSP00000346354:W448C;ENSP00000347685:W447C;ENSP00000361170:W472C;ENSP00000361182:W462C;ENSP00000361187:W461C;ENSP00000432330:W142C;ENSP00000408176:W475C;ENSP00000361172:W458C	.|ENSP00000346354:W448C	G|W	-|-	2|3	0|0	MUTYH|MUTYH	45569492|45569492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.173000|0.173000	0.22820|0.22820	7.048000|7.048000	0.76606|0.76606	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.507	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		28	100	28	100	---	---	---	---
ZFYVE9	9372	broad.mit.edu	37	1	52703701	52703701	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:52703701A>T	ENST00000371591.1	+	3	743	c.612A>T	c.(610-612)gaA>gaT	p.E204D	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E204D|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E204D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	204					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.E204D(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGTCCACTGAAAAAGATATGA	0.343																																						uc001cto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(610-612)GAA>GAT		zinc finger, FYVE domain containing 9 isoform 3							54.0	57.0	56.0					1																	52703701		2203	4299	6502	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52703701A>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.612A>T	1.37:g.52703701A>T	ENSP00000360647:p.Glu204Asp					ZFYVE9_uc001ctn.2_Missense_Mutation_p.E204D|ZFYVE9_uc001ctp.2_Missense_Mutation_p.E204D	p.E204D	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	784	+			204					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.612A>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.841191	0.32513	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.12	0.0299	0.14165	.	0.087556	0.47093	N	0.000253	T	0.27384	0.0672	N	0.24115	0.695	0.25826	N	0.984224	B;B;B	0.14805	0.011;0.007;0.011	B;B;B	0.16722	0.016;0.007;0.016	T	0.10941	-1.0608	10	0.41790	T	0.15	.	5.4024	0.16303	0.5525:0.142:0.3055:0.0	.	204;204;204	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	D	204	ENSP00000349737:E204D;ENSP00000355358:E204D;ENSP00000287727:E204D;ENSP00000360647:E204D	ENSP00000287727:E204D	E	+	3	2	ZFYVE9	52476289	0.771000	0.28555	1.000000	0.80357	0.966000	0.64601	-0.170000	0.09897	0.082000	0.17018	0.533000	0.62120	GAA		PASS	0.343	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		19	61	19	61	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82447526	82447526	+	Missense_Mutation	SNP	C	C	G	rs541553847		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:82447526C>G	ENST00000370728.1	+	21	3781	c.3136C>G	c.(3136-3138)Ctt>Gtt	p.L1046V	LPHN2_ENST00000335786.5_Missense_Mutation_p.L1046V|LPHN2_ENST00000370715.1_Missense_Mutation_p.L1033V|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1046V|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1061V|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1033V|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1061V|LPHN2_ENST00000370713.1_Missense_Mutation_p.L1033V|LPHN2_ENST00000370721.1_Missense_Mutation_p.L971V|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1048V|LPHN2_ENST00000319517.6_Missense_Mutation_p.L1033V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1061V|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1061V|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1048V			O95490	LPHN2_HUMAN	latrophilin 2	1046					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L1061V(1)|p.L1033V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTTCTGTGTCTTCTTGGCCT	0.403																																						uc001dit.3																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3097-3099)CTT>GTT		latrophilin 2 precursor							247.0	250.0	249.0					1																	82447526		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82447526C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3136C>G	1.37:g.82447526C>G	ENSP00000359763:p.Leu1046Val					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1033V|LPHN2_uc001div.2_Missense_Mutation_p.L1033V|LPHN2_uc009wcd.2_Missense_Mutation_p.L1033V|LPHN2_uc001diw.2_Missense_Mutation_p.L617V|LPHN2_uc009wce.1_Missense_Mutation_p.L134V	p.L1033V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3278	+			1046			Helical; Name=6; (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3097C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.85|17.85	3.490644|3.490644	0.64074|0.64074	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	5.67|5.67	5.67|5.67	0.87782|0.87782	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65719|0.65719	0.2718|0.2718	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.966;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.91;0.991;0.999|.	T|T	0.61187|0.61187	-0.7113|-0.7113	10|5	0.87932|.	D|.	0|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1046;1033;1033;1033|.	O95490;O95490-3;O95490-4;O95490-2|.	LPHN2_HUMAN;.;.;.|.	V|C	971;1046;1046;1061;1061;1048;1033;1033;1033;1033;1061;1048;1061;1046|51	ENSP00000359756:L971V;ENSP00000359763:L1046V;ENSP00000359765:L1046V;ENSP00000359762:L1061V;ENSP00000359760:L1061V;ENSP00000359758:L1048V;ENSP00000353006:L1033V;ENSP00000359750:L1033V;ENSP00000359748:L1033V;ENSP00000322270:L1033V;ENSP00000359752:L1061V;ENSP00000378344:L1048V;ENSP00000271029:L1061V;ENSP00000337306:L1046V|.	ENSP00000271029:L1061V|.	L|S	+|+	1|2	0|0	LPHN2|LPHN2	82220114|82220114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.818000|7.818000	0.86416|0.86416	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CTT|TCT		PASS	0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		61	249	61	249	---	---	---	---
PRKACB	5567	broad.mit.edu	37	1	84544037	84544037	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:84544037G>T	ENST00000370689.2	+	1	293	c.29G>T	c.(28-30)gGc>gTc	p.G10V	PRKACB_ENST00000370688.3_Missense_Mutation_p.G10V|RP11-486G15.2_ENST00000605506.1_lincRNA	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	10					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.G10V(2)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCCAAGAAAGGCAGCGAGGTG	0.711																																						uc001djj.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(28-30)GGC>GTC		cAMP-dependent protein kinase catalytic subunit							40.0	43.0	42.0					1																	84544037		2202	4300	6502	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84544037G>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.29G>T	1.37:g.84544037G>T	ENSP00000359723:p.Gly10Val					PRKACB_uc001djh.1_RNA|PRKACB_uc001dji.2_Missense_Mutation_p.G10V	p.G10V	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	1	293	+			10					B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.29G>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	g	9.622	1.134036	0.21123	.	.	ENSG00000142875	ENST00000370689;ENST00000370688	T;T	0.69561	-0.24;-0.41	3.92	2.98	0.34508	.	.	.	.	.	T	0.36331	0.0963	L	0.29908	0.895	0.80722	D	1	B;B	0.20368	0.035;0.044	B;B	0.26517	0.033;0.07	T	0.23691	-1.0181	9	0.35671	T	0.21	.	9.5178	0.39115	0.0:0.2157:0.7843:0.0	.	10;10	P22694;P22694-8	KAPCB_HUMAN;.	V	10	ENSP00000359723:G10V;ENSP00000359722:G10V	ENSP00000359722:G10V	G	+	2	0	PRKACB	84316625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.618000	0.61211	0.965000	0.38133	0.457000	0.33378	GGC		PASS	0.711	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		3	31	3	31	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94546254	94546254	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:94546254C>A	ENST00000370225.3	-	8	965	c.879G>T	c.(877-879)atG>atT	p.M293I	ABCA4_ENST00000535735.1_Missense_Mutation_p.M293I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	293					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.M293I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCAAGTCCTGCATACTCGGCC	0.517																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(877-879)ATG>ATT		ATP-binding cassette, sub-family A member 4							73.0	68.0	70.0					1																	94546254		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94546254C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.879G>T	1.37:g.94546254C>A	ENSP00000359245:p.Met293Ile					ABCA4_uc010otn.1_Missense_Mutation_p.M293I	p.M293I	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	8	983	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	293			Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.879G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	1.362	-0.588445	0.03799	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.90504	-2.56;-2.68	5.94	-0.989	0.10242	.	0.720818	0.13529	N	0.381074	T	0.65333	0.2681	N	0.24115	0.695	0.24258	N	0.995294	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.56727	-0.7931	10	0.28530	T	0.3	.	6.2266	0.20711	0.4038:0.3791:0.2171:0.0	.	293;293	F5H6E5;P78363	.;ABCA4_HUMAN	I	293	ENSP00000359245:M293I;ENSP00000437682:M293I	ENSP00000359245:M293I	M	-	3	0	ABCA4	94318842	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	1.310000	0.33551	-0.110000	0.12022	-0.262000	0.10625	ATG		PASS	0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		26	72	26	72	---	---	---	---
LCE5A	254910	broad.mit.edu	37	1	152484143	152484143	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:152484143C>T	ENST00000334269.2	+	2	309	c.133C>T	c.(133-135)Cca>Tca	p.P45S	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	45	Cys-rich.				keratinization (GO:0031424)			p.P45S(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCATGCCCACCTCCAGT	0.622																																						uc001ezy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)CCA>TCA		late cornified envelope 5A							86.0	83.0	84.0					1																	152484143		2203	4300	6503	SO:0001583	missense	254910				keratinization			g.chr1:152484143C>T	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.133C>T	1.37:g.152484143C>T	ENSP00000333952:p.Pro45Ser					CRCT1_uc001ezz.2_5'Flank	p.P45S	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	309	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		45			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.133C>T	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	C	6.642	0.486972	0.12641	.	.	ENSG00000186207	ENST00000334269	T	0.03441	3.93	4.08	1.99	0.26369	.	.	.	.	.	T	0.00468	0.0015	N	0.01352	-0.895	0.09310	N	1	B	0.13145	0.007	B	0.17433	0.018	T	0.47573	-0.9107	9	0.41790	T	0.15	.	4.6368	0.12528	0.0:0.6058:0.0:0.3942	.	45	Q5TCM9	LCE5A_HUMAN	S	45	ENSP00000333952:P45S	ENSP00000333952:P45S	P	+	1	0	LCE5A	150750767	0.000000	0.05858	0.003000	0.11579	0.840000	0.47671	0.053000	0.14184	0.780000	0.33566	0.505000	0.49811	CCA		PASS	0.622	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		20	66	20	66	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154543919	154543919	+	Missense_Mutation	SNP	C	C	T	rs201622476		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:154543919C>T	ENST00000368476.3	+	5	884	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	207					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.A207V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GACATCGTGGCGCTGCCGGGC	0.592																																						uc001ffg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GCG>GTG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						180.0	138.0	152.0					1																	154543919		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543919C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.620C>T	1.37:g.154543919C>T	ENSP00000357461:p.Ala207Val						p.A207V	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	884	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		207			Extracellular (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.620C>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265253	0.80358	.	.	ENSG00000160716	ENST00000368476	T	0.78003	-1.14	4.1	4.1	0.47936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.63597	0.916	T	0.81488	-0.0910	10	0.41790	T	0.15	.	16.1089	0.81244	0.0:1.0:0.0:0.0	.	207	P17787	ACHB2_HUMAN	V	207	ENSP00000357461:A207V	ENSP00000357461:A207V	A	+	2	0	CHRNB2	152810543	1.000000	0.71417	0.984000	0.44739	0.968000	0.65278	5.777000	0.68931	2.095000	0.63458	0.467000	0.42956	GCG		PASS	0.592	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		15	68	15	68	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639957	156639957	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:156639957G>T	ENST00000368223.3	-	4	4155	c.4023C>A	c.(4021-4023)ggC>ggA	p.G1341G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1341	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.G1341G(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCCTCAAGGCCCTCGGAAG	0.637																																						uc001fpq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(4021-4023)GGC>GGA		nestin							60.0	72.0	68.0					1																	156639957		2201	4300	6501	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639957G>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4023C>A	1.37:g.156639957G>T							p.G1341G	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4156	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1341			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.4023C>A	CCDS1151.1																																																																																				PASS	0.637	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		24	96	24	96	---	---	---	---
KCNJ9	3765	broad.mit.edu	37	1	160054285	160054285	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:160054285C>A	ENST00000368088.3	+	2	707	c.465C>A	c.(463-465)ggC>ggA	p.G155G		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	155					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.G155G(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATGGTGGGCTGCATGTTCG	0.667																																						uc001fuy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(463-465)GGC>GGA		potassium inwardly-rectifying channel subfamily							40.0	38.0	38.0					1																	160054285		2203	4300	6503	SO:0001819	synonymous_variant	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054285C>A	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.465C>A	1.37:g.160054285C>A							p.G155G	NM_004983	NP_004974	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	707	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		155			Helical; Name=M2; (By similarity).		Q5JW75	Silent	SNP	ENST00000368088.3	37	c.465C>A	CCDS1194.1																																																																																				PASS	0.667	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		17	28	17	28	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190195413	190195413	+	Missense_Mutation	SNP	G	G	T	rs148869641		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:190195413G>T	ENST00000367462.3	-	6	991	c.760C>A	c.(760-762)Cgt>Agt	p.R254S	BRINP3_ENST00000534846.1_Missense_Mutation_p.R152S|BRINP3_ENST00000463404.1_5'Flank	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	254	MACPF.				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)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R254S(1)									TGTACAAAACGTTCCTGAAGA	0.358																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(760-762)CGT>AGT		family with sequence similarity 5, member C							74.0	70.0	71.0					1																	190195413		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190195413G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.760C>A	1.37:g.190195413G>T	ENSP00000356432:p.Arg254Ser					FAM5C_uc010pot.1_Missense_Mutation_p.R152S	p.R254S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			6	992	-	Prostate(682;0.198)		254					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.760C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105227	0.37145	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18016	2.5;2.24	5.81	5.81	0.92471	Membrane attack complex component/perforin (MACPF) domain (1);	0.313643	0.35466	N	0.003189	T	0.13372	0.0324	L	0.28400	0.85	0.32272	N	0.568775	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.06481	-1.0824	10	0.29301	T	0.29	.	12.51	0.56000	0.0:0.0:0.8334:0.1666	.	152;254	B7Z260;Q76B58	.;FAM5C_HUMAN	S	254;152	ENSP00000356432:R254S;ENSP00000438022:R152S	ENSP00000356432:R254S	R	-	1	0	FAM5C	188462036	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	3.175000	0.50855	2.736000	0.93811	0.655000	0.94253	CGT		PASS	0.358	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	54	11	54	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220809369	220809369	+	Splice_Site	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:220809369G>C	ENST00000366917.4	+	13	1736		c.e13+1		MARK1_ENST00000402574.1_Splice_Site|MARK1_ENST00000366918.4_Splice_Site					MAP/microtubule affinity-regulating kinase 1									p.?(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TATTCCAAGTGTGAGTAAATA	0.333																																						uc001hmn.3																			1	Unknown(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.e13+1		MAP/microtubule affinity-regulating kinase 1							53.0	55.0	54.0					1																	220809369		2203	4300	6503	SO:0001630	splice_region_variant	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220809369G>C	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1470+1G>C	1.37:g.220809369G>C						MARK1_uc009xdw.2_Splice_Site_p.S490_splice|MARK1_uc010pun.1_Splice_Site_p.S490_splice|MARK1_uc001hmm.3_Splice_Site_p.S468_splice	p.S490_splice	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	13	2067	+									Splice_Site	SNP	ENST00000366917.4	37	c.1470_splice	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258514	0.80246	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	.	.	.	5.73	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8645	0.86025	0.0:0.1285:0.8715:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK1	218875992	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	9.153000	0.94687	1.517000	0.48917	0.655000	0.94253	.		PASS	0.333	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		Intron	6	41	6	41	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223465960	223465960	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:223465960C>T	ENST00000343846.3	-	2	815	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G61D|SUSD4_ENST00000494793.2_Missense_Mutation_p.G61D|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.G61D|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G61D(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTCGGGAATGCCGGGGTCAGC	0.522																																						uc001hnx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(181-183)GGC>GAC		sushi domain containing 4 isoform a							60.0	68.0	65.0					1																	223465960		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465960C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.182G>A	1.37:g.223465960C>T	ENSP00000344219:p.Gly61Asp					SUSD4_uc001hny.3_Missense_Mutation_p.G61D|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G61D|SUSD4_uc010pux.1_Intron	p.G61D	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	816	-			61			Sushi 1.|Extracellular (Potential).		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.182G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738234	0.49045	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.63417	-0.04;-0.04;-0.04	5.43	5.43	0.79202	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.48286	D	0.000196	T	0.78285	0.4259	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.968	T	0.80462	-0.1372	10	0.62326	D	0.03	-29.6036	12.5651	0.56306	0.0:0.9238:0.0:0.0762	.	61;61	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	D	61	ENSP00000344219:G61D;ENSP00000355843:G61D;ENSP00000339926:G61D	ENSP00000271787:G61D	G	-	2	0	SUSD4	221532583	0.991000	0.36638	0.972000	0.41901	0.120000	0.20174	4.086000	0.57664	2.547000	0.85894	0.561000	0.74099	GGC		PASS	0.522	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	72	3	72	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237801714	237801714	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:237801714G>T	ENST00000366574.2	+	45	7167	c.6850G>T	c.(6850-6852)Ggc>Tgc	p.G2284C	RYR2_ENST00000360064.6_Missense_Mutation_p.G2282C|RYR2_ENST00000542537.1_Missense_Mutation_p.G2268C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2284	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2282C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGTCTAAGGGCTATCCAGA	0.428																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6850-6852)GGC>TGC		cardiac muscle ryanodine receptor							273.0	269.0	270.0					1																	237801714		1922	4135	6057	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237801714G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6850G>T	1.37:g.237801714G>T	ENSP00000355533:p.Gly2284Cys						p.G2284C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	6970	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2284			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6850G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461914	0.84425	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95821	-3.82;-3.82;-3.82	5.31	5.31	0.75309	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000004	D	0.96953	0.9005	M	0.72118	2.19	0.80722	D	1	D	0.60160	0.987	P	0.57502	0.822	D	0.97357	0.9967	10	0.87932	D	0	-14.0792	19.348	0.94373	0.0:0.0:1.0:0.0	.	2284	Q92736	RYR2_HUMAN	C	2284;2282;2268	ENSP00000355533:G2284C;ENSP00000353174:G2282C;ENSP00000443798:G2268C	ENSP00000353174:G2282C	G	+	1	0	RYR2	235868337	1.000000	0.71417	0.992000	0.48379	0.713000	0.41058	7.950000	0.87804	2.627000	0.88993	0.561000	0.74099	GGC		PASS	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	192	48	192	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262831	248262831	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:248262831C>T	ENST00000358120.2	+	2	299	c.154C>T	c.(154-156)Cct>Tct	p.P52S	OR2L13_ENST00000366478.2_Missense_Mutation_p.P52S			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P52S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCACGTGGATCCTCGTCTCCA	0.498																																						uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(154-156)CCT>TCT		olfactory receptor, family 2, subfamily L,							240.0	223.0	229.0					1																	248262831		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262831C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.154C>T	1.37:g.248262831C>T	ENSP00000350836:p.Pro52Ser						p.P52S	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	491	+	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)		52			Cytoplasmic (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.154C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.468323	0.01053	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03951	3.75;3.75	4.07	-6.72	0.01755	GPCR, rhodopsin-like superfamily (1);	1.550550	0.04043	N	0.303352	T	0.01661	0.0053	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.02654	T	1	.	6.9267	0.24419	0.0:0.1956:0.3347:0.4697	.	52	Q8N349	OR2LD_HUMAN	S	52	ENSP00000355434:P52S;ENSP00000350836:P52S	ENSP00000350836:P52S	P	+	1	0	OR2L13	246329454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.034000	0.00158	-1.538000	0.01734	-0.145000	0.13849	CCT		PASS	0.498	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		44	113	44	113	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248344136	248344136	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:248344136C>T	ENST00000359682.2	+	1	849	c.849C>T	c.(847-849)ccC>ccT	p.P283P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P283P(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TCCTCACTCCCATGCTGAATC	0.483																																						uc010pzf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(847-849)CCC>CCT		olfactory receptor, family 2, subfamily M,							180.0	165.0	170.0					1																	248344136		2203	4298	6501	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344136C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.849C>T	1.37:g.248344136C>T							p.P283P	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	849	+	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)		283			Helical; Name=7; (Potential).		A3KFT4	Silent	SNP	ENST00000359682.2	37	c.849C>T	CCDS31106.1																																																																																				PASS	0.483	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		41	140	41	140	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551173	248551173	+	Silent	SNP	C	C	A	rs151042656	byFrequency	TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:248551173C>A	ENST00000355728.2	+	1	264	c.264C>A	c.(262-264)ggC>ggA	p.G88G		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G88G(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATCTCATGGGCGAGGGGACCA	0.527																																						uc001iei.1																			2	Substitution - coding silent(2)	p.G88G(1)	ovary(1)|lung(1)	ovary(2)|skin(1)	3						c.(262-264)GGC>GGA		olfactory receptor, family 2, subfamily T,							153.0	134.0	140.0					1																	248551173		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551173C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.264C>A	1.37:g.248551173C>A							p.G88G	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	264	+	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)		88			Extracellular (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.264C>A	CCDS31114.1																																																																																				PASS	0.527	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		33	73	33	73	---	---	---	---
OR2T5	401993	broad.mit.edu	37	1	248651974	248651974	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr1:248651974G>T	ENST00000366473.2	+	1	90	c.85G>T	c.(85-87)Gct>Tct	p.A29S		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A29S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			CAAACATCCAGCTCTACTTAG	0.507																																						uc001iem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(85-87)GCT>TCT		olfactory receptor, family 2, subfamily T,							153.0	167.0	162.0					1																	248651974		2199	4298	6497	SO:0001583	missense	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651974G>T	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.85G>T	1.37:g.248651974G>T	ENSP00000355429:p.Ala29Ser						p.A29S	NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	85	+	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)		29			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000366473.2	37	c.85G>T	CCDS31118.1	.	.	.	.	.	.	.	.	.	.	g	4.995	0.184830	0.09495	.	.	ENSG00000203661	ENST00000366473	T	0.00530	6.77	2.64	-0.782	0.10961	.	0.872061	0.09690	N	0.768570	T	0.00356	0.0011	N	0.17800	0.525	0.09310	N	1	B	0.27068	0.167	B	0.32677	0.15	T	0.32241	-0.9914	10	0.20519	T	0.43	.	6.6652	0.23037	0.653:0.0:0.347:0.0	.	29	Q6IEZ7	OR2T5_HUMAN	S	29	ENSP00000355429:A29S	ENSP00000355429:A29S	A	+	1	0	OR2T5	246718597	0.000000	0.05858	0.180000	0.23079	0.032000	0.12392	-0.137000	0.10389	-0.124000	0.11724	0.413000	0.27773	GCT		PASS	0.507	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		23	130	23	130	---	---	---	---
HADHB	3032	broad.mit.edu	37	2	26502066	26502066	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:26502066G>T	ENST00000317799.5	+	9	798	c.694G>T	c.(694-696)Gct>Tct	p.A232S	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.A210S|HADHB_ENST00000537713.1_Missense_Mutation_p.A217S	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	232					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.A232S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGACTGGCCGCTGCCTTTGC	0.542																																						uc002rgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(694-696)GCT>TCT		mitochondrial trifunctional protein, beta							102.0	96.0	98.0					2																	26502066		2203	4300	6503	SO:0001583	missense	3032				fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	g.chr2:26502066G>T		CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.694G>T	2.37:g.26502066G>T	ENSP00000325136:p.Ala232Ser					HADHB_uc010ykv.1_Missense_Mutation_p.A210S|HADHB_uc010ykw.1_Missense_Mutation_p.A217S|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.A158S	p.A232S	NM_000183	NP_000174	P55084	ECHB_HUMAN			9	945	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		232					B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	c.694G>T	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035233	0.75617	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.90620	-2.7;-2.7;-2.7	5.69	5.69	0.88448	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.90604	0.7054	L	0.39467	1.215	0.80722	D	1	B;P;P	0.39094	0.4;0.455;0.659	B;B;P	0.47402	0.293;0.279;0.546	D	0.88900	0.3352	10	0.37606	T	0.19	-11.1865	18.7441	0.91785	0.0:0.0:1.0:0.0	.	217;210;232	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	S	232;217;210	ENSP00000325136:A232S;ENSP00000444295:A217S;ENSP00000442665:A210S	ENSP00000325136:A232S	A	+	1	0	HADHB	26355570	1.000000	0.71417	0.952000	0.39060	0.832000	0.47134	9.424000	0.97464	2.840000	0.97914	0.655000	0.94253	GCT		PASS	0.542	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183		30	109	30	109	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32740406	32740406	+	Missense_Mutation	SNP	G	G	T	rs112352145		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:32740406G>T	ENST00000421745.2	+	55	11052	c.10918G>T	c.(10918-10920)Gct>Tct	p.A3640S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3640					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10918-10920)GCT>TCT		baculoviral IAP repeat-containing 6							82.0	77.0	79.0					2																	32740406		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740406G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10918G>T	2.37:g.32740406G>T	ENSP00000393596:p.Ala3640Ser						p.A3640S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11052	+	Acute lymphoblastic leukemia(172;0.155)		3640					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10918G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938399	0.34189	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.44	5.44	0.79542	.	0.185023	0.46145	D	0.000302	T	0.69015	0.3064	L	0.38531	1.155	0.45676	D	0.99859	B	0.20261	0.043	B	0.22601	0.04	T	0.63690	-0.6580	10	0.41790	T	0.15	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3640	Q9NR09	BIRC6_HUMAN	S	3640	ENSP00000393596:A3640S	ENSP00000393596:A3640S	A	+	1	0	BIRC6	32593910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.736000	0.84948	2.563000	0.86464	0.585000	0.79938	GCT		PASS	0.438	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	48	14	48	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32750596	32750596	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:32750596A>T	ENST00000421745.2	+	59	11955	c.11821A>T	c.(11821-11823)Agg>Tgg	p.R3941W		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3941					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R3941W(1)|p.R3913W(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGGAGGGGGAGGACAATACC	0.458																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11821-11823)AGG>TGG		baculoviral IAP repeat-containing 6							97.0	94.0	95.0					2																	32750596		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32750596A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11821A>T	2.37:g.32750596A>T	ENSP00000393596:p.Arg3941Trp						p.R3941W	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			59	11955	+	Acute lymphoblastic leukemia(172;0.155)		3941					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11821A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724079	0.89298	.	.	ENSG00000115760	ENST00000421745	T	0.80994	-1.44	5.62	5.62	0.85841	.	0.172363	0.47455	D	0.000240	D	0.83889	0.5352	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86282	0.1668	10	0.87932	D	0	.	15.8142	0.78586	1.0:0.0:0.0:0.0	.	3941	Q9NR09	BIRC6_HUMAN	W	3941	ENSP00000393596:R3941W	ENSP00000393596:R3941W	R	+	1	2	BIRC6	32604100	1.000000	0.71417	0.958000	0.39756	0.981000	0.71138	4.162000	0.58177	2.148000	0.66965	0.459000	0.35465	AGG		PASS	0.458	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	62	14	62	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50149153	50149153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:50149153C>A	ENST00000406316.2	-	22	5839	c.4363G>T	c.(4363-4365)Gag>Tag	p.E1455*	NRXN1_ENST00000342183.5_Nonsense_Mutation_p.E420*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E1477*|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.E1525*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E1455*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E1485*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.E473*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E1477*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1455					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E1525*(1)|p.E1455*(1)|p.E420*(1)|p.E1526*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGTTGTTTCTCCTTTACAACA	0.413																																						uc010fbp.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(2)	2						c.(1258-1260)GAG>TAG		neurexin 1 isoform beta precursor							199.0	169.0	179.0					2																	50149153		2203	4300	6503	SO:0001587	stop_gained	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149153C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4363G>T	2.37:g.50149153C>A	ENSP00000384311:p.Glu1455*					NRXN1_uc002rxb.3_Nonsense_Mutation_p.E1154*|NRXN1_uc010fbq.2_Nonsense_Mutation_p.E1525*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.E1455*|NRXN1_uc010yon.1_Nonsense_Mutation_p.E120*|NRXN1_uc002rxa.3_Nonsense_Mutation_p.E117*	p.E420*	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2065	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	420			Cytoplasmic (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.1258G>T	CCDS54360.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	49|49|49	15.537230|15.537230|15.537230	0.99837|0.99837|0.99837	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000378262|ENST00000412315	.|.|.	.|.|.	.|.|.	5.44|5.44|5.44	4.57|4.57|4.57	0.56435|0.56435|0.56435	.|.|.	0.105886|.|.	0.33895|.|.	U|.|.	0.004444|.|.	.|T|T	.|0.70011|0.70011	.|0.3175|0.3175	.|.|.	.|.|.	.|.|.	0.58432|0.58432|0.58432	D|D|D	0.999992|0.999992|0.999992	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.69602|0.69602	.|-0.5101|-0.5101	.|4|4	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	14.3661|14.3661|14.3661	0.66807|0.66807|0.66807	0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707|0.0:0.9293:0.0:0.0707	.|.|.	.|.|.	.|.|.	.|.|.	X|V|S	420;374;473;1525;1455;1477;1485;1526;1477;1455|121|187	.|.|.	ENSP00000341184:E420X|.|.	E|G|R	-|-|-	1|2|3	0|0|2	NRXN1|NRXN1|NRXN1	50002657|50002657|50002657	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.893000|0.893000|0.893000	0.52053|0.52053|0.52053	7.651000|7.651000|7.651000	0.83577|0.83577|0.83577	1.534000|1.534000|1.534000	0.49203|0.49203|0.49203	-0.140000|-0.140000|-0.140000	0.14226|0.14226|0.14226	GAG|GGA|AGG		PASS	0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			26	75	26	75	---	---	---	---
INPP4A	3631	broad.mit.edu	37	2	99155388	99155388	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:99155388C>T	ENST00000523221.1	+	7	614	c.614C>T	c.(613-615)gCg>gTg	p.A205V	INPP4A_ENST00000409851.3_Missense_Mutation_p.A205V|INPP4A_ENST00000409016.4_Missense_Mutation_p.A205V|INPP4A_ENST00000545415.1_Missense_Mutation_p.A205V|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.A205V|INPP4A_ENST00000409540.3_Missense_Mutation_p.A205V			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	205					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.A205V(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TTGACGGAGGCGTTAGGAATC	0.438																																						uc002syy.2																			2	Substitution - Missense(2)		lung(2)	kidney(1)	1						c.(613-615)GCG>GTG		inositol polyphosphate-4-phosphatase, type 1							103.0	97.0	99.0					2																	99155388		1981	4168	6149	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155388C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.614C>T	2.37:g.99155388C>T	ENSP00000427722:p.Ala205Val					INPP4A_uc010yvj.1_Missense_Mutation_p.A205V|INPP4A_uc010yvk.1_Missense_Mutation_p.A205V|INPP4A_uc002syx.2_Missense_Mutation_p.A205V|INPP4A_uc010fik.2_Intron	p.A205V	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			9	1007	+			205					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.614C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255110	0.59321	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.11	5.11	0.69529	.	0.218151	0.49305	D	0.000152	T	0.23171	0.0560	N	0.14661	0.345	0.46376	D	0.99901	B;B;B;B	0.32071	0.003;0.065;0.355;0.355	B;B;B;B	0.23852	0.006;0.032;0.049;0.049	T	0.05084	-1.0907	10	0.35671	T	0.21	-3.9838	17.6935	0.88275	0.0:1.0:0.0:0.0	.	205;205;205;205	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	V	205	ENSP00000386704:A205V;ENSP00000386777:A205V;ENSP00000074304:A205V;ENSP00000442149:A205V;ENSP00000387294:A205V;ENSP00000427722:A205V	ENSP00000074304:A205V	A	+	2	0	INPP4A	98521820	1.000000	0.71417	0.900000	0.35374	0.351000	0.29236	7.574000	0.82434	2.653000	0.90120	0.585000	0.79938	GCG		PASS	0.438	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		6	25	6	25	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125284887	125284887	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:125284887C>A	ENST00000431078.1	+	10	1864	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	500	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S500S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCACCGATTCCCAATGTTTAA	0.463																																						uc002tno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)	10						c.(1498-1500)TCC>TCA		contactin associated protein-like 5 precursor							112.0	105.0	107.0					2																	125284887		1901	4122	6023	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125284887C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1500C>A	2.37:g.125284887C>A						CNTNAP5_uc010flu.2_Silent_p.S501S	p.S500S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	10	1864	+			500			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1500C>A	CCDS46401.1																																																																																				PASS	0.463	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			11	62	11	62	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141116407	141116407	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:141116407T>G	ENST00000389484.3	-	73	12211	c.11240A>C	c.(11239-11241)gAt>gCt	p.D3747A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3747	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3747A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGATCTTCATCTGAATTGTC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11239-11241)GAT>GCT		low density lipoprotein-related protein 1B							204.0	184.0	191.0					2																	141116407		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141116407T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11240A>C	2.37:g.141116407T>G	ENSP00000374135:p.Asp3747Ala	TSP Lung(27;0.18)					p.D3747A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	73	12212	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3747			Extracellular (Potential).|LDL-receptor class A 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11240A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410051	0.62399	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.75821	-0.97	5.55	5.55	0.83447	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.91304	0.7258	H	0.97783	4.075	0.54753	D	0.999988	D	0.71674	0.998	D	0.78314	0.991	D	0.94408	0.7629	10	0.87932	D	0	.	15.354	0.74412	0.0:0.0:0.0:1.0	.	3747	Q9NZR2	LRP1B_HUMAN	A	3747;3685	ENSP00000374135:D3747A	ENSP00000374135:D3747A	D	-	2	0	LRP1B	140832877	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	7.163000	0.77524	2.109000	0.64355	0.533000	0.62120	GAT		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	129	4	129	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141660699	141660699	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:141660699G>T	ENST00000389484.3	-	23	4527	c.3556C>A	c.(3556-3558)Cac>Aac	p.H1186N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1186	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.H1186N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGAACAGTGGTTGCTACAG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3556-3558)CAC>AAC		low density lipoprotein-related protein 1B							102.0	86.0	92.0					2																	141660699		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141660699G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3556C>A	2.37:g.141660699G>T	ENSP00000374135:p.His1186Asn	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.H368N	p.H1186N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	23	4528	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1186			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3556C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758075	0.31137	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96168	-3.93;-3.93	5.43	5.43	0.79202	Epidermal growth factor-like (1);	0.075384	0.56097	U	0.000032	D	0.86764	0.6011	N	0.01529	-0.815	0.40250	D	0.978069	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.82226	-0.0562	10	0.15066	T	0.55	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	369;1186	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1186;1124;331	ENSP00000374135:H1186N;ENSP00000413239:H331N	ENSP00000374135:H1186N	H	-	1	0	LRP1B	141377169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.699000	0.92147	0.650000	0.86243	CAC		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	45	9	45	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141665614	141665614	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:141665614C>T	ENST00000389484.3	-	22	4323	c.3352G>A	c.(3352-3354)Gga>Aga	p.G1118R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1118	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G1118R(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAATATCTCCATCACACACC	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3352-3354)GGA>AGA		low density lipoprotein-related protein 1B							190.0	150.0	164.0					2																	141665614		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665614C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3352G>A	2.37:g.141665614C>T	ENSP00000374135:p.Gly1118Arg	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.G300R	p.G1118R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4324	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1118			Extracellular (Potential).|LDL-receptor class A 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3352G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795305	0.90453	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96802	-4.13;-4.13	5.58	5.58	0.84498	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.145061	0.45126	D	0.000384	D	0.97945	0.9324	M	0.72353	2.195	0.80722	D	1	P;D	0.89917	0.632;1.0	P;D	0.97110	0.656;1.0	D	0.98348	1.0542	10	0.62326	D	0.03	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	301;1118	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	R	1118;1056;263	ENSP00000374135:G1118R;ENSP00000413239:G263R	ENSP00000374135:G1118R	G	-	1	0	LRP1B	141382084	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.729000	0.84864	2.641000	0.89580	0.585000	0.79938	GGA		PASS	0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	60	16	60	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141762970	141762970	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:141762970G>T	ENST00000389484.3	-	15	3408	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	813	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P813T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGCCTCCTGGGATAGCCAAG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2437-2439)CCA>ACA		low density lipoprotein-related protein 1B							87.0	84.0	85.0					2																	141762970		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141762970G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2437C>A	2.37:g.141762970G>T	ENSP00000374135:p.Pro813Thr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.P813T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	15	3409	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	813			Extracellular (Potential).|EGF-like 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2437C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605189	0.87157	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97256	-4.31	5.99	5.11	0.69529	.	0.000000	0.85682	U	0.000000	D	0.96876	0.8980	M	0.72894	2.215	0.58432	D	0.999997	D	0.55605	0.972	P	0.48304	0.573	D	0.96814	0.9599	10	0.72032	D	0.01	.	15.4077	0.74893	0.0665:0.0:0.9335:0.0	.	813	Q9NZR2	LRP1B_HUMAN	T	813;751	ENSP00000374135:P813T	ENSP00000374135:P813T	P	-	1	0	LRP1B	141479440	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	9.630000	0.98420	1.542000	0.49330	-0.150000	0.13652	CCA		PASS	0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	66	16	66	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156530	145156530	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:145156530G>T	ENST00000558170.2	-	8	3408	c.2224C>A	c.(2224-2226)Cca>Aca	p.P742T	ZEB2_ENST00000539609.3_Missense_Mutation_p.P718T|ZEB2_ENST00000409487.3_Missense_Mutation_p.P742T|ZEB2_ENST00000303660.4_Missense_Mutation_p.P742T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	742					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.P742T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTATAGATGGTGATGTTATG	0.418																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2224-2226)CCA>ACA		zinc finger homeobox 1b							232.0	240.0	237.0					2																	145156530		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156530G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2224C>A	2.37:g.145156530G>T	ENSP00000454157:p.Pro742Thr					ZEB2_uc002tvv.2_Missense_Mutation_p.P736T|ZEB2_uc010zbm.1_Missense_Mutation_p.P713T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P771T	p.P742T	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2704	-			742					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2224C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	7.830	0.719565	0.15372	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.12361	2.71;2.69;2.69	5.04	4.1	0.47936	.	0.109676	0.64402	D	0.000006	T	0.10121	0.0248	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.27823	0.137;0.19;0.084;0.084	B;B;B;B	0.27608	0.075;0.081;0.034;0.034	T	0.21314	-1.0249	10	0.31617	T	0.26	-5.5777	15.2184	0.73288	0.0:0.1409:0.8591:0.0	.	718;607;741;742	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	T	718;742;742	ENSP00000443792:P718T;ENSP00000302501:P742T;ENSP00000386854:P742T	ENSP00000302501:P742T	P	-	1	0	ZEB2	144873000	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	6.645000	0.74343	2.508000	0.84585	0.655000	0.94253	CCA		PASS	0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		60	205	60	205	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162760576	162760576	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:162760576G>A	ENST00000446997.1	+	13	1598	c.1505G>A	c.(1504-1506)aGa>aAa	p.R502K	SLC4A10_ENST00000415876.2_Missense_Mutation_p.R472K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R483K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R472K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R502K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	502					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.R502K(1)|p.R472K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGTGACTTCAGAGATGCTTTC	0.433																																						uc002ubx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1504-1506)AGA>AAA		solute carrier family 4, sodium bicarbonate							73.0	68.0	69.0					2																	162760576		1855	4113	5968	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162760576G>A		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1505G>A	2.37:g.162760576G>A	ENSP00000393066:p.Arg502Lys					SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R472K|SLC4A10_uc010zcs.1_Missense_Mutation_p.R483K	p.R502K	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			13	1689	+			502			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1505G>A	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	4.509	0.094379	0.08632	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.48	2.63	0.31362	Bicarbonate transporter, C-terminal (1);	0.184267	0.56097	D	0.000030	T	0.50326	0.1609	N	0.03209	-0.39	0.27752	N	0.944132	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.002;0.002;0.005	T	0.35051	-0.9804	10	0.06236	T	0.91	.	11.458	0.50193	0.0679:0.4983:0.4338:0.0	.	483;472;502	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	K	483;472;472;471;502;502;501	ENSP00000364664:R483K;ENSP00000395797:R472K;ENSP00000272716:R472K;ENSP00000393066:R502K;ENSP00000404486:R502K	ENSP00000272716:R472K	R	+	2	0	SLC4A10	162468822	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.645000	0.46621	0.267000	0.21916	-0.344000	0.07964	AGA		PASS	0.433	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		4	12	4	12	---	---	---	---
CALCRL	10203	broad.mit.edu	37	2	188210986	188210986	+	Silent	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:188210986A>T	ENST00000409998.1	-	16	2092	c.1311T>A	c.(1309-1311)ccT>ccA	p.P437P	CALCRL_ENST00000410068.1_Silent_p.P437P|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Silent_p.P437P			Q16602	CALRL_HUMAN	calcitonin receptor-like	437					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.P437P(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGTGTTCACTAGGACAGTCAT	0.363																																						uc002upv.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)	4						c.(1309-1311)CCT>CCA		calcitonin receptor-like precursor							122.0	113.0	116.0					2																	188210986		2203	4299	6502	SO:0001819	synonymous_variant	10203					integral to plasma membrane		g.chr2:188210986A>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1311T>A	2.37:g.188210986A>T						CALCRL_uc010frt.2_Silent_p.P437P	p.P437P	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		15	1859	-			437			Cytoplasmic (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Silent	SNP	ENST00000409998.1	37	c.1311T>A	CCDS2293.1																																																																																				PASS	0.363	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		10	41	10	41	---	---	---	---
DIRC1	116093	broad.mit.edu	37	2	189599601	189599601	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:189599601G>T	ENST00000308100.4	-	2	317	c.47C>A	c.(46-48)cCc>cAc	p.P16H	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	16								p.P16H(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTCTGTGGTGGGCAGTGATGT	0.522																																						uc002uqi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CCC>CAC		disrupted in renal carcinoma 1							86.0	83.0	84.0					2																	189599601		2203	4300	6503	SO:0001583	missense	116093							g.chr2:189599601G>T	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.47C>A	2.37:g.189599601G>T	ENSP00000307860:p.Pro16His						p.P16H	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	318	-			16					Q08AK1	Missense_Mutation	SNP	ENST00000308100.4	37	c.47C>A	CCDS2296.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839373	0.32513	.	.	ENSG00000174325	ENST00000308100	T	0.33438	1.41	3.32	-1.93	0.07594	.	.	.	.	.	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.57548	0.823	T	0.14671	-1.0464	9	0.87932	D	0	.	4.1151	0.10077	0.4646:0.1826:0.3529:0.0	.	16	Q969H9	DIRC1_HUMAN	H	16	ENSP00000307860:P16H	ENSP00000307860:P16H	P	-	2	0	DIRC1	189307846	0.125000	0.22332	0.000000	0.03702	0.537000	0.34900	0.298000	0.19120	-0.492000	0.06687	-0.136000	0.14681	CCC		PASS	0.522	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		19	66	19	66	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203622139	203622139	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:203622139G>T	ENST00000392238.2	+	6	1308	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	FAM117B_ENST00000303116.6_Silent_p.L192L			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	436								p.L436L(1)|p.L192L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CGGATGACCTGCTTGTTGATC	0.468																																						uc010zhx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1306-1308)CTG>CTT		amyotrophic lateral sclerosis 2 (juvenile)							143.0	127.0	132.0					2																	203622139		2203	4300	6503	SO:0001819	synonymous_variant	150864							g.chr2:203622139G>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1308G>T	2.37:g.203622139G>T							p.L436L	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			6	1318	+			436					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	ENST00000392238.2	37	c.1308G>T	CCDS33362.2																																																																																				PASS	0.468	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		15	44	15	44	---	---	---	---
GPR1	2825	broad.mit.edu	37	2	207040914	207040914	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr2:207040914G>C	ENST00000407325.2	-	3	1420	c.1058C>G	c.(1057-1059)aCa>aGa	p.T353R	GPR1_ENST00000437420.1_Missense_Mutation_p.T353R	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T353R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTATTGAGCTGTTTCCAGGAG	0.413																																						uc002vbl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)ACA>AGA		G protein-coupled receptor 1							57.0	54.0	55.0					2																	207040914		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207040914G>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.1058C>G	2.37:g.207040914G>C	ENSP00000384345:p.Thr353Arg					GPR1_uc010fue.2_Missense_Mutation_p.T353R|GPR1_uc010fuf.2_Missense_Mutation_p.T353R	p.T353R	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	1444	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	353			Cytoplasmic (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.1058C>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627042	0.28978	.	.	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.71817	-0.6;-0.6	5.56	4.49	0.54785	.	0.646461	0.15036	N	0.284160	T	0.46619	0.1402	N	0.08118	0	0.37629	D	0.921601	P	0.40875	0.731	B	0.36719	0.231	T	0.48790	-0.9004	10	0.26408	T	0.33	.	9.2883	0.37771	0.0846:0.0:0.7678:0.1475	.	353	P46091	GPR1_HUMAN	R	353	ENSP00000384345:T353R;ENSP00000397535:T353R	ENSP00000384345:T353R	T	-	2	0	GPR1	206749159	0.997000	0.39634	1.000000	0.80357	0.115000	0.19883	2.841000	0.48223	2.636000	0.89361	0.655000	0.94253	ACA		PASS	0.413	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		8	33	8	33	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10400554	10400554	+	Missense_Mutation	SNP	G	G	A	rs544333948		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:10400554G>A	ENST00000352432.4	-	13	2026	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R608W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R653W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R639W|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R608W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	653					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.R608W(1)|p.R653W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATCTCGTCCCGGTCGCGGGGC	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1957-1959)CGG>TGG		plasma membrane calcium ATPase 2 isoform 1							46.0	46.0	46.0					3																	10400554		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10400554G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1957C>T	3.37:g.10400554G>A	ENSP00000324172:p.Arg653Trp					ATP2B2_uc003bvv.2_Missense_Mutation_p.R608W|ATP2B2_uc003bvw.2_Missense_Mutation_p.R608W|ATP2B2_uc010hdo.2_Missense_Mutation_p.R358W	p.R653W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			14	2396	-			653			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1957C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787520	0.70337	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	4.65	2.74	0.32292	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058110	0.64402	D	0.000003	D	0.86003	0.5829	M	0.92122	3.275	0.54753	D	0.999989	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.69654	0.887;0.932;0.965	D	0.87867	0.2668	10	0.87932	D	0	-31.1709	13.2848	0.60237	0.0:0.0:0.6057:0.3943	.	588;620;653	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	W	653;608;608;653;639;588;509;653	ENSP00000324172:R653W;ENSP00000373311:R608W;ENSP00000380267:R608W;ENSP00000353414:R653W;ENSP00000344677:R639W;ENSP00000414854:R509W	ENSP00000342954:R653W	R	-	1	2	ATP2B2	10375554	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.436000	0.44819	0.335000	0.23614	0.491000	0.48974	CGG		PASS	0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		5	52	5	52	---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13611931	13611931	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:13611931G>T	ENST00000295760.7	+	2	145	c.76G>T	c.(76-78)Gca>Tca	p.A26S	FBLN2_ENST00000535798.1_Missense_Mutation_p.A52S|FBLN2_ENST00000404922.3_Missense_Mutation_p.A26S|FBLN2_ENST00000492059.1_Missense_Mutation_p.A26S	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	26					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A26S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CAGCGTGGCCGCAGCTGCCCC	0.721																																						uc011avb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)GCA>TCA		fibulin 2 isoform b precursor																																				SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13611931G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.76G>T	3.37:g.13611931G>T	ENSP00000295760:p.Ala26Ser					FBLN2_uc011auz.1_Missense_Mutation_p.A52S|FBLN2_uc011ava.1_Missense_Mutation_p.A26S|FBLN2_uc011avc.1_Missense_Mutation_p.A26S	p.A26S	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		2	201	+			26					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.76G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	3.199	-0.164140	0.06502	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000465610;ENST00000492059	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	4.32	-3.68	0.04463	.	2.945070	0.01823	N	0.034171	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B;B;B	0.27013	0.103;0.166;0.166	B;B;B	0.23275	0.02;0.045;0.045	T	0.41645	-0.9497	10	0.17832	T	0.49	.	5.7648	0.18221	0.4784:0.0:0.3962:0.1254	.	26;26;52	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	S	52;26;26;26;26	ENSP00000445705:A52S;ENSP00000384169:A26S;ENSP00000295760:A26S;ENSP00000420164:A26S;ENSP00000420042:A26S	ENSP00000295760:A26S	A	+	1	0	FBLN2	13586931	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.657000	0.05335	-1.022000	0.03346	-2.008000	0.00441	GCA		PASS	0.721	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		4	6	4	6	---	---	---	---
NR2C2	7182	broad.mit.edu	37	3	15064835	15064835	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:15064835G>T	ENST00000425241.1	+	6	1047	c.685G>T	c.(685-687)Gca>Tca	p.A229S	NR2C2_ENST00000393102.3_Missense_Mutation_p.A229S|NR2C2_ENST00000406272.2_Missense_Mutation_p.A229S|NR2C2_ENST00000323373.6_Missense_Mutation_p.A248S			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	229					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A248S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACGTTTGTGGCAGACAAAGA	0.507																																						uc003bzj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)GCA>TCA		nuclear receptor subfamily 2, group C, member 2							121.0	114.0	116.0					3																	15064835		2203	4300	6503	SO:0001583	missense	7182				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:15064835G>T	L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.685G>T	3.37:g.15064835G>T	ENSP00000388387:p.Ala229Ser					NR2C2_uc003bzi.2_Missense_Mutation_p.A248S	p.A229S	NM_003298	NP_003289	P49116	NR2C2_HUMAN			6	902	+			229					A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37	c.685G>T		.	.	.	.	.	.	.	.	.	.	G	4.370	0.068179	0.08436	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.76	4.89	0.63831	Nuclear hormone receptor, ligand-binding (1);	0.048096	0.85682	D	0.000000	T	0.78515	0.4295	N	0.01576	-0.805	0.38028	D	0.935068	B;B	0.11235	0.001;0.004	B;B	0.10450	0.002;0.005	T	0.74140	-0.3761	10	0.06757	T	0.87	.	10.1015	0.42509	0.0688:0.0:0.7952:0.136	.	229;248	P49116;F2YGU2	NR2C2_HUMAN;.	S	229;248;229;229	ENSP00000388387:A229S;ENSP00000320447:A248S;ENSP00000376814:A229S;ENSP00000384463:A229S	ENSP00000320447:A248S	A	+	1	0	NR2C2	15039839	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.563000	0.53784	1.577000	0.49804	-0.150000	0.13652	GCA		PASS	0.507	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298		4	136	4	136	---	---	---	---
LRRC3B	116135	broad.mit.edu	37	3	26751354	26751354	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:26751354C>A	ENST00000396641.2	+	2	783	c.191C>A	c.(190-192)cCt>cAt	p.P64H	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.P64H|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P64H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	64	LRRNT.					integral component of membrane (GO:0016021)		p.P64H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GATCTTCCTCCTGAAACAGTC	0.428																																						uc003cdp.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(190-192)CCT>CAT		leucine rich repeat containing 3B precursor							107.0	103.0	104.0					3																	26751354		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751354C>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.191C>A	3.37:g.26751354C>A	ENSP00000379880:p.Pro64His					LRRC3B_uc003cdq.2_Missense_Mutation_p.P64H	p.P64H	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN			2	780	+			64			LRRNT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.191C>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407692	0.25378	.	.	ENSG00000179796	ENST00000396641;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	6.17	6.17	0.99709	Leucine-rich repeat-containing N-terminal (1);	0.103153	0.64402	D	0.000003	D	0.91543	0.7329	M	0.80508	2.5	0.58432	D	0.999999	B	0.20780	0.048	B	0.19946	0.027	D	0.86920	0.2066	10	0.36615	T	0.2	-12.9206	19.8676	0.96824	0.0:1.0:0.0:0.0	.	64	Q96PB8	LRC3B_HUMAN	H	64	ENSP00000379880:P64H;ENSP00000398184:P64H;ENSP00000406370:P64H;ENSP00000394940:P64H	ENSP00000379880:P64H	P	+	2	0	LRRC3B	26726358	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	3.656000	0.54467	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.428	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		21	59	21	59	---	---	---	---
USP19	10869	broad.mit.edu	37	3	49146522	49146522	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:49146522G>A	ENST00000398888.2	-	26	4144	c.3826C>T	c.(3826-3828)Ccc>Tcc	p.P1276S	USP19_ENST00000398892.3_Missense_Mutation_p.P1316S|USP19_ENST00000434032.2_Missense_Mutation_p.P1377S|USP19_ENST00000398898.2_Intron|USP19_ENST00000417901.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000453664.1_Intron	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1276					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.P1377S(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGTGGTAGGGGGCCCACCCAG	0.672																																						uc003cwd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(3826-3828)CCC>TCC		ubiquitin thioesterase 19							16.0	21.0	20.0					3																	49146522		1999	4163	6162	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49146522G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3826C>T	3.37:g.49146522G>A	ENSP00000381863:p.Pro1276Ser					USP19_uc003cwa.2_Intron|USP19_uc003cvz.3_Intron|USP19_uc011bcg.1_Intron|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.P1034S|USP19_uc011bch.1_Missense_Mutation_p.P1377S	p.P1276S	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	26	3987	-			1276			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.3826C>T	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753510	0.31046	.	.	ENSG00000172046	ENST00000398892;ENST00000398888;ENST00000434032	T;T;T	0.18174	2.23;2.32;2.33	5.1	5.1	0.69264	.	1.597690	0.03875	N	0.276204	T	0.16854	0.0405	L	0.27053	0.805	0.32083	N	0.592831	B;B;B	0.22276	0.067;0.067;0.01	B;B;B	0.16289	0.015;0.015;0.003	T	0.04767	-1.0928	10	0.33141	T	0.24	-17.8356	13.4623	0.61233	0.0:0.0:0.8055:0.1945	.	1377;1276;1316	E9PEG8;O94966;B5MEG5	.;UBP19_HUMAN;.	S	1316;1276;1377	ENSP00000381867:P1316S;ENSP00000381863:P1276S;ENSP00000401197:P1377S	ENSP00000381863:P1276S	P	-	1	0	USP19	49121526	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.889000	0.48601	2.663000	0.90544	0.655000	0.94253	CCC		PASS	0.672	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		3	13	3	13	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77147370	77147370	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:77147370C>A	ENST00000461745.1	+	2	1167	c.267C>A	c.(265-267)tcC>tcA	p.S89S	ROBO2_ENST00000332191.8_Silent_p.S89S|ROBO2_ENST00000487694.3_Silent_p.S105S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	89	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.S105S(1)|p.S89S(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGCGGATCCTTATTCTTCT	0.557																																						uc003dpy.3																			2	Substitution - coding silent(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(265-267)TCC>TCA		roundabout, axon guidance receptor, homolog 2							86.0	93.0	91.0					3																	77147370		2031	4185	6216	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147370C>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.267C>A	3.37:g.77147370C>A						ROBO2_uc003dpz.2_Silent_p.S89S|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.S89S	p.S89S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	910	+			89			Ig-like C2-type 1.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.267C>A	CCDS43109.1																																																																																				PASS	0.557	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		23	79	23	79	---	---	---	---
GPR128	84873	broad.mit.edu	37	3	100378607	100378607	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:100378607C>A	ENST00000273352.3	+	14	2167	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	GPR128_ENST00000475887.1_Silent_p.T338T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	633					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T633T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TACCTGTAACCATTATCCTCA	0.403																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1897-1899)ACC>ACA		G protein-coupled receptor 128 precursor							214.0	192.0	199.0					3																	100378607		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100378607C>A	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1899C>A	3.37:g.100378607C>A						GPR128_uc011bhc.1_Silent_p.T334T|GPR128_uc003dud.2_Silent_p.T156T	p.T633T	NM_032787	NP_116176	Q96K78	GP128_HUMAN			14	2167	+			633			Helical; Name=5; (Potential).		Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.1899C>A	CCDS2938.1																																																																																				PASS	0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			20	72	20	72	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102183089	102183089	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:102183089T>A	ENST00000491959.1	+	14	1637	c.755T>A	c.(754-756)tTc>tAc	p.F252Y	ZPLD1_ENST00000306176.1_Missense_Mutation_p.F268Y|ZPLD1_ENST00000466937.1_Missense_Mutation_p.F252Y			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	252	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.F268Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TATGATCTTTTCCTTAGGTAA	0.318																																						uc003dvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(754-756)TTC>TAC		zona pellucida-like domain containing 1							175.0	170.0	172.0					3																	102183089		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102183089T>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.755T>A	3.37:g.102183089T>A	ENSP00000420265:p.Phe252Tyr					ZPLD1_uc003dvt.1_Missense_Mutation_p.F268Y|ZPLD1_uc011bhg.1_Missense_Mutation_p.F252Y	p.F252Y	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			14	1637	+			252			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.755T>A		.	.	.	.	.	.	.	.	.	.	T	24.6	4.545780	0.86022	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82081	-1.57;-1.57;-1.57	5.6	5.6	0.85130	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.991;0.997	D	0.91174	0.4971	10	0.87932	D	0	-6.3986	15.7802	0.78255	0.0:0.0:0.0:1.0	.	268;252	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	Y	252;268;252	ENSP00000420265:F252Y;ENSP00000307801:F268Y;ENSP00000418253:F252Y	ENSP00000307801:F268Y	F	+	2	0	ZPLD1	103665779	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.024000	0.88770	2.125000	0.65367	0.482000	0.46254	TTC		PASS	0.318	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		25	97	25	97	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113878657	113878657	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:113878657C>T	ENST00000460779.1	-	4	617	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DRD3_ENST00000467632.1_Missense_Mutation_p.D110N|DRD3_ENST00000383673.2_Missense_Mutation_p.D110N|DRD3_ENST00000295881.7_Missense_Mutation_p.D110N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	110					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.D110N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATCATGACATCCAGGGTGACA	0.502																																						uc003ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(328-330)GAT>AAT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						172.0	141.0	152.0					3																	113878657		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113878657C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.328G>A	3.37:g.113878657C>T	ENSP00000419402:p.Asp110Asn					DRD3_uc010hqn.1_Missense_Mutation_p.D110N|DRD3_uc003ebb.1_Missense_Mutation_p.D110N|DRD3_uc003ebc.1_Missense_Mutation_p.D110N	p.D110N	NM_000796	NP_000787	P35462	DRD3_HUMAN			4	751	-			110			Helical; Name=3.	Agonist.	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.328G>A	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977460	0.92982	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.92923	3.36	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	T	0.78309	-0.2254	10	0.87932	D	0	.	16.2952	0.82767	0.0:1.0:0.0:0.0	.	110;110;110;110	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	N	110	ENSP00000419402:D110N;ENSP00000420662:D110N;ENSP00000373169:D110N;ENSP00000295881:D110N	ENSP00000281274:D110N	D	-	1	0	DRD3	115361347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.301000	0.78850	2.384000	0.81235	0.555000	0.69702	GAT		PASS	0.502	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		61	107	61	107	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121228898	121228898	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:121228898C>A	ENST00000264233.5	-	11	1932	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	602					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.D737Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTGTTCCATCACTGGCTTCT	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1804-1806)GAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							138.0	126.0	130.0					3																	121228898		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121228898C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1804G>T	3.37:g.121228898C>A	ENSP00000264233:p.Asp602Tyr						p.D602Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	11	1933	-			602					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.1804G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346194	0.61073	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53857	0.6	5.2	4.33	0.51752	.	0.071175	0.51477	D	0.000089	T	0.58380	0.2118	L	0.55481	1.735	0.38700	D	0.952973	D	0.54397	0.966	P	0.53593	0.73	T	0.64812	-0.6319	10	0.87932	D	0	.	10.8349	0.46681	0.0:0.8422:0.0:0.1578	.	602	O75417	DPOLQ_HUMAN	Y	225;602;738	ENSP00000264233:D602Y	ENSP00000264233:D602Y	D	-	1	0	POLQ	122711588	0.000000	0.05858	0.923000	0.36655	0.989000	0.77384	0.036000	0.13819	1.180000	0.42898	0.460000	0.39030	GAT		PASS	0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		39	108	39	108	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140251217	140251217	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:140251217G>A	ENST00000458420.3	+	9	1586	c.1396G>A	c.(1396-1398)Gta>Ata	p.V466I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	466					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.V466I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTTTCCTGTGGTAACCTTATA	0.408										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1396-1398)GTA>ATA		calsyntenin 2 precursor							155.0	137.0	143.0					3																	140251217		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251217G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1396G>A	3.37:g.140251217G>A	ENSP00000402460:p.Val466Ile	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.V466I	p.V466I	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1586	+			466			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1396G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071471	0.93950	.	.	ENSG00000158258	ENST00000458420	T	0.02709	4.19	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.14657	0.0354	M	0.72576	2.205	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.00083	-1.2102	9	.	.	.	-8.6602	17.2644	0.87081	0.0:0.0:1.0:0.0	.	466	Q9H4D0	CSTN2_HUMAN	I	466	ENSP00000402460:V466I	.	V	+	1	0	CLSTN2	141733907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.697000	0.92050	0.655000	0.94253	GTA		PASS	0.408	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		14	118	14	118	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147113994	147113994	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:147113994G>T	ENST00000383075.3	-	3	845	c.333C>A	c.(331-333)caC>caA	p.H111Q	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.H161Q|ZIC4_ENST00000425731.3_Missense_Mutation_p.H149Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.H111Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.H111Q	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	111						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H111Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCAGGACCGTGGGGCGCAG	0.701																																						uc003ewd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(331-333)CAC>CAA		zinc finger protein of the cerebellum 4							27.0	32.0	30.0					3																	147113994		2194	4296	6490	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113994G>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.333C>A	3.37:g.147113994G>T	ENSP00000372553:p.His111Gln					ZIC4_uc003ewc.1_Missense_Mutation_p.H41Q|ZIC4_uc011bno.1_Missense_Mutation_p.H161Q	p.H111Q	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	606	-			111					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.333C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601405	0.46423	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.98	0.77	0.18497	.	0.505204	0.16992	N	0.191254	T	0.52741	0.1753	M	0.76170	2.325	0.80722	D	1	P;D	0.65815	0.46;0.995	B;P	0.57204	0.167;0.815	T	0.52026	-0.8630	10	0.56958	D	0.05	.	7.6761	0.28486	0.1431:0.2505:0.6064:0.0	.	161;111	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Q	111;149;161;111;111;111	ENSP00000372553:H111Q;ENSP00000397695:H149Q;ENSP00000435509:H161Q;ENSP00000417855:H111Q;ENSP00000420775:H111Q;ENSP00000420627:H111Q	ENSP00000372553:H111Q	H	-	3	2	ZIC4	148596684	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	2.126000	0.42026	0.120000	0.18254	0.561000	0.74099	CAC		PASS	0.701	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			11	33	11	33	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128391	147128391	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:147128391G>T	ENST00000282928.4	+	1	1221	c.492G>T	c.(490-492)agG>agT	p.R164S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	164					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R164S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCAGATGAGGCTCGGCTTCT	0.701																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(490-492)AGG>AGT		zinc finger protein of the cerebellum 1							22.0	27.0	25.0					3																	147128391		2196	4291	6487	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128391G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.492G>T	3.37:g.147128391G>T	ENSP00000282928:p.Arg164Ser						p.R164S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1211	+			164					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.492G>T	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286942	0.59867	.	.	ENSG00000152977	ENST00000282928	T	0.39229	1.09	3.34	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	M	0.80616	2.505	0.58432	D	0.999999	D	0.61697	0.99	D	0.79108	0.992	T	0.71669	-0.4523	10	0.87932	D	0	.	13.3949	0.60846	0.0:0.2286:0.7714:0.0	.	164	Q15915	ZIC1_HUMAN	S	164	ENSP00000282928:R164S	ENSP00000282928:R164S	R	+	3	2	ZIC1	148611081	0.794000	0.28838	1.000000	0.80357	0.998000	0.95712	-0.157000	0.10085	1.878000	0.54408	0.542000	0.68232	AGG		PASS	0.701	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		16	20	16	20	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130402	147130402	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:147130402G>T	ENST00000282928.4	+	2	1809	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	360					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K360N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGAGCGACAAGCCCTATCTTT	0.582																																						uc003ewe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1078-1080)AAG>AAT		zinc finger protein of the cerebellum 1							157.0	123.0	135.0					3																	147130402		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130402G>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1080G>T	3.37:g.147130402G>T	ENSP00000282928:p.Lys360Asn						p.K360N	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			2	1799	+			360					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1080G>T	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.98|19.98	3.927494|3.927494	0.73327|0.73327	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000282928|ENST00000488404	T|.	0.08546|.	3.08|.	4.12|4.12	3.07|3.07	0.35406|0.35406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.61751|0.61751	0.2372|0.2372	L|L	0.60957|0.60957	1.885|1.885	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.74023|.	0.982|.	T|T	0.60525|0.60525	-0.7246|-0.7246	10|5	0.87932|.	D|.	0|.	.|.	10.4591|10.4591	0.44567|0.44567	0.143:0.0:0.857:0.0|0.143:0.0:0.857:0.0	.|.	360|.	Q15915|.	ZIC1_HUMAN|.	N|I	360|49	ENSP00000282928:K360N|.	ENSP00000282928:K360N|.	K|S	+|+	3|2	2|0	ZIC1|ZIC1	148613092|148613092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.215000|1.215000	0.32431|0.32431	1.846000|1.846000	0.53633|0.53633	0.462000|0.462000	0.41574|0.41574	AAG|AGC		PASS	0.582	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	116	15	116	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148596536	148596536	+	Splice_Site	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:148596536G>T	ENST00000296046.3	+	5	526		c.e5+1		RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)						angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGTTCTGAAGGTAAAAATAAC	0.308																																						uc003ewm.2																			1	Unknown(1)		lung(1)	breast(1)|skin(1)	2						c.e5+1		carboxypeptidase A3 precursor							48.0	55.0	52.0					3																	148596536		2199	4292	6491	SO:0001630	splice_region_variant	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596536G>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.474+1G>T	3.37:g.148596536G>T							p.K158_splice	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	526	+								Q96E94	Splice_Site	SNP	ENST00000296046.3	37	c.474_splice	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219807	0.39201	.	.	ENSG00000163751	ENST00000296046	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0074	0.89213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPA3	150079226	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	7.163000	0.77524	2.857000	0.98124	0.650000	0.86243	.		PASS	0.308	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870	Intron	27	71	27	71	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169847268	169847268	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:169847268T>G	ENST00000494943.1	-	8	1024	c.956A>C	c.(955-957)aAa>aCa	p.K319T	PHC3_ENST00000467570.1_Missense_Mutation_p.K278T|PHC3_ENST00000495893.2_Missense_Mutation_p.K331T			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	319					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K331T(1)|p.K300T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGAAACTTTGGAAGGTGG	0.408																																						uc010hws.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(955-957)AAA>ACA		polyhomeotic like 3							172.0	170.0	171.0					3																	169847268		1948	4141	6089	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169847268T>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.956A>C	3.37:g.169847268T>G	ENSP00000420271:p.Lys319Thr					PHC3_uc003fgl.2_Missense_Mutation_p.K331T|PHC3_uc011bpq.1_Missense_Mutation_p.K278T|PHC3_uc011bpr.1_Missense_Mutation_p.K245T	p.K319T	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1020	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		319					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.956A>C		.	.	.	.	.	.	.	.	.	.	T	15.41	2.826421	0.50739	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570;ENST00000484931	T;T	0.36157	1.27;1.3	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.989;0.999;0.981;0.989	D;D;D;D	0.78314	0.969;0.991;0.932;0.969	T	0.49624	-0.8920	10	0.15066	T	0.55	-13.3787	15.0029	0.71489	0.0:0.0:0.0:1.0	.	278;278;319;331	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	T	319;331;278;157	ENSP00000420271:K319T;ENSP00000420294:K331T	ENSP00000419089:K278T	K	-	2	0	PHC3	171329962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.744000	0.68664	2.034000	0.60081	0.459000	0.35465	AAA		PASS	0.408	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		58	141	58	141	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183696311	183696311	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:183696311A>T	ENST00000334444.6	-	9	1516	c.1276T>A	c.(1276-1278)Ttc>Atc	p.F426I	ABCC5_ENST00000265586.6_Missense_Mutation_p.F426I|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	426	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.F426I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTCAGATCGAAGCCCAGGGTC	0.522																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1276-1278)TTC>ATC		ATP-binding cassette, sub-family C, member 5							84.0	95.0	91.0					3																	183696311		2070	4221	6291	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183696311A>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1276T>A	3.37:g.183696311A>T	ENSP00000333926:p.Phe426Ile					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.F426I	p.F426I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		9	1441	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		426			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.1276T>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603488	0.46423	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.94417	-3.42;-2.88	5.8	5.8	0.92144	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.216222	0.49916	D	0.000135	D	0.86335	0.5908	N	0.03608	-0.345	0.36658	D	0.877785	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	D	0.83726	0.0195	10	0.24483	T	0.36	-23.917	16.1537	0.81640	1.0:0.0:0.0:0.0	.	426;426	Q86UX3;O15440	.;MRP5_HUMAN	I	426;362;426	ENSP00000333926:F426I;ENSP00000265586:F426I	ENSP00000265586:F426I	F	-	1	0	ABCC5	185179005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.126000	0.71635	2.213000	0.71641	0.528000	0.53228	TTC		PASS	0.522	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		21	75	21	75	---	---	---	---
CLDN1	9076	broad.mit.edu	37	3	190039968	190039968	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr3:190039968C>G	ENST00000295522.3	-	1	296	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	10					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G10R(1)		lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAATGAAGCCCAACAGCTGC	0.657																																						uc003fsh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(28-30)GGC>CGC		claudin 1							52.0	53.0	52.0					3																	190039968		2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190039968C>G	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.28G>C	3.37:g.190039968C>G	ENSP00000295522:p.Gly10Arg						p.G10R	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	1	248	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		10			Helical; (Potential).			Missense_Mutation	SNP	ENST00000295522.3	37	c.28G>C	CCDS3295.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344866	0.95807	.	.	ENSG00000163347	ENST00000295522	D	0.89810	-2.57	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97376	0.9979	10	0.87932	D	0	.	18.7503	0.91812	0.0:1.0:0.0:0.0	.	10	O95832	CLD1_HUMAN	R	10	ENSP00000295522:G10R	ENSP00000295522:G10R	G	-	1	0	CLDN1	191522662	1.000000	0.71417	0.991000	0.47740	0.762000	0.43233	7.792000	0.85828	2.775000	0.95449	0.655000	0.94253	GGC		PASS	0.657	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		13	48	13	48	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71472446	71472446	+	Nonstop_Mutation	SNP	G	G	C	rs372563005		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr4:71472446G>C	ENST00000322937.6	+	13	1446	c.1343G>C	c.(1342-1344)tGa>tCa	p.*448S	AMBN_ENST00000449493.2_Nonstop_Mutation_p.*433S	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	0					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.*448S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			CAAGAGCCCTGACAGCTCTAA	0.483																																						uc003hfl.2																			1	Nonstop extension(1)		lung(1)	ovary(3)|skin(1)	4						c.(1342-1344)TGA>TCA		ameloblastin precursor							39.0	44.0	42.0					4																	71472446		2156	4270	6426	SO:0001578	stop_lost	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472446G>C	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1343G>C	4.37:g.71472446G>C	ENSP00000313809:p.*448Serext*3						p.*448S	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1418	+			448					Q3B862|Q9H2X1|Q9H4L1	Nonstop_Mutation	SNP	ENST00000322937.6	37	c.1343G>C	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932830	0.34096	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4698	0.75432	0.0:0.0:1.0:0.0	.	.	.	.	S	448;447;433	.	.	X	+	2	2	AMBN	71507035	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	2.590000	0.46154	2.726000	0.93360	0.563000	0.77884	TGA		PASS	0.483	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		22	25	22	25	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80990634	80990634	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr4:80990634C>T	ENST00000307333.7	-	3	254	c.252G>A	c.(250-252)gtG>gtA	p.V84V	ANTXR2_ENST00000295465.4_Silent_p.V84V|ANTXR2_ENST00000403729.2_Silent_p.V84V|ANTXR2_ENST00000404191.1_Silent_p.V7V|ANTXR2_ENST00000346652.6_Silent_p.V84V	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	84	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.V84V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GAGAAGAAAACACAATGAAAG	0.313									Juvenile Hyaline Fibromatosis																													uc003hlz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(250-252)GTG>GTA		anthrax toxin receptor 2 isoform 2							56.0	52.0	53.0					4																	80990634		1828	4086	5914	SO:0001819	synonymous_variant	118429	Juvenile_Hyaline_Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80990634C>T	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.252G>A	4.37:g.80990634C>T						ANTXR2_uc003hly.3_Silent_p.V84V|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Silent_p.V84V	p.V84V	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN			3	1015	-			84			Extracellular (Potential).|VWFA.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Silent	SNP	ENST00000307333.7	37	c.252G>A	CCDS47086.1																																																																																				PASS	0.313	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		5	10	5	10	---	---	---	---
MAPK10	5602	broad.mit.edu	37	4	86988994	86988994	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr4:86988994C>A	ENST00000359221.3	-	10	1443	c.917G>T	c.(916-918)gGa>gTa	p.G306V	MAPK10_ENST00000395157.3_Missense_Mutation_p.G161V|MAPK10_ENST00000361569.2_Missense_Mutation_p.G306V|MAPK10_ENST00000395160.3_Missense_Mutation_p.G161V|MAPK10_ENST00000395166.1_Missense_Mutation_p.G268V|MAPK10_ENST00000395161.2_Missense_Mutation_p.G306V|MAPK10_ENST00000395169.3_Missense_Mutation_p.G268V|MAPK10_ENST00000449047.2_Missense_Mutation_p.G161V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.G161V(1)|p.G306V(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GAAGGTGAGTCCCGCATACTT	0.458																																						uc003hpq.2																			2	Substitution - Missense(2)		lung(2)	stomach(1)|breast(1)|central_nervous_system(1)	3						c.(916-918)GGA>GTA		mitogen-activated protein kinase 10 isoform 2							159.0	141.0	147.0					4																	86988994		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:86988994C>A	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.917G>T	4.37:g.86988994C>A	ENSP00000352157:p.Gly306Val					MAPK10_uc010ikg.2_Missense_Mutation_p.G268V|MAPK10_uc003hpr.2_Missense_Mutation_p.G268V|MAPK10_uc003hps.2_Missense_Mutation_p.G306V|MAPK10_uc003hpt.2_Missense_Mutation_p.G306V|MAPK10_uc003hpu.2_Missense_Mutation_p.G306V|MAPK10_uc003hpv.2_Missense_Mutation_p.G161V|MAPK10_uc003hpn.2_Missense_Mutation_p.G54V|MAPK10_uc003hpo.2_Missense_Mutation_p.G161V|MAPK10_uc011ccw.1_Missense_Mutation_p.G192V|MAPK10_uc003hpp.2_Missense_Mutation_p.G161V	p.G306V	NM_138982	NP_620448	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	9	984	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	306			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.917G>T	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045417	0.93685	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.35249	1.045	0.80722	D	1	P;D;D;D;D	0.71674	0.938;0.996;0.997;0.997;0.998	P;D;D;D;D	0.72982	0.86;0.952;0.962;0.962;0.979	D	0.88530	0.3102	10	0.72032	D	0.01	-14.4909	19.2776	0.94038	0.0:1.0:0.0:0.0	.	192;161;268;306;306	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	V	268;306;161;306;268;161;161;306	ENSP00000378598:G268V;ENSP00000352157:G306V;ENSP00000378586:G161V;ENSP00000355297:G306V;ENSP00000378595:G268V;ENSP00000378589:G161V;ENSP00000414469:G161V;ENSP00000378590:G306V	ENSP00000352157:G306V	G	-	2	0	MAPK10	87208018	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.769000	0.85360	2.611000	0.88343	0.655000	0.94253	GGA		PASS	0.458	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			22	36	22	36	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114277038	114277038	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr4:114277038A>C	ENST00000357077.4	+	38	7317	c.7264A>C	c.(7264-7266)Agc>Cgc	p.S2422R	ANK2_ENST00000264366.6_Missense_Mutation_p.S2389R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2422					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S2422R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGAAGTCCTCAGCGCTGTGGC	0.483																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(7264-7266)AGC>CGC		ankyrin 2 isoform 1							59.0	61.0	60.0					4																	114277038		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277038A>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7264A>C	4.37:g.114277038A>C	ENSP00000349588:p.Ser2422Arg					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2437R	p.S2422R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	7364	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2389					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.7264A>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407787	0.83340	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.76578	-1.02;-1.03	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	D	0.86973	0.6062	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86560	0.1840	9	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	2389;2422	Q01484;Q01484-4	ANK2_HUMAN;.	R	2422;2389	ENSP00000349588:S2422R;ENSP00000264366:S2389R	.	S	+	1	0	ANK2	114496487	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.948000	0.93006	2.324000	0.78689	0.533000	0.62120	AGC		PASS	0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	55	9	55	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32101331	32101331	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:32101331A>G	ENST00000438447.1	+	24	8727	c.8339A>G	c.(8338-8340)aAa>aGa	p.K2780R	CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.K2780R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2780	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.K2780R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTGGTCATTAAAAGAGTGTAC	0.468																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(8338-8340)AAA>AGA		PDZ domain containing 2							127.0	122.0	124.0					5																	32101331		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32101331A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8339A>G	5.37:g.32101331A>G	ENSP00000402033:p.Lys2780Arg					PDZD2_uc003jhm.2_Missense_Mutation_p.K2780R|PDZD2_uc003jhn.2_RNA	p.K2780R	NM_178140	NP_835260	O15018	PDZD2_HUMAN			24	8727	+			2780			PDZ 6.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.8339A>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954004	0.73902	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.28895	1.59;1.59	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000019	T	0.54334	0.1852	M	0.76170	2.325	0.30199	N	0.79875	D	0.89917	1.0	D	0.91635	0.999	T	0.58031	-0.7708	10	0.41790	T	0.15	.	13.321	0.60432	1.0:0.0:0.0:0.0	.	2780	O15018	PDZD2_HUMAN	R	2780;2581;2780	ENSP00000402033:K2780R;ENSP00000282493:K2780R	ENSP00000282493:K2780R	K	+	2	0	PDZD2	32137088	1.000000	0.71417	0.261000	0.24466	0.795000	0.44927	7.595000	0.82710	2.027000	0.59764	0.533000	0.62120	AAA		PASS	0.468	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			15	32	15	32	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32274181	32274181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:32274181C>A	ENST00000382142.3	-	3	360	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	MTMR12_ENST00000264934.5_Nonsense_Mutation_p.E64*|MTMR12_ENST00000280285.5_Nonsense_Mutation_p.E64*	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	64						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.E64*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGGAATCTTCCTGGACATAC	0.458																																						uc003jhq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(190-192)GAA>TAA		myotubularin related protein 12							173.0	150.0	158.0					5																	32274181		2203	4300	6503	SO:0001587	stop_gained	54545					cytoplasm	phosphatase activity	g.chr5:32274181C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.190G>T	5.37:g.32274181C>A	ENSP00000371577:p.Glu64*					MTMR12_uc010iuk.2_Nonsense_Mutation_p.E64*|MTMR12_uc010iul.2_Nonsense_Mutation_p.E64*	p.E64*	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			3	360	-			64					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Nonsense_Mutation	SNP	ENST00000382142.3	37	c.190G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	36	5.922195	0.97105	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	4.8	4.8	0.61643	.	0.403835	0.25091	N	0.033203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	18.2291	0.89928	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000264934:E64X	E	-	1	0	MTMR12	32309938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.379000	0.66196	2.359000	0.80004	0.549000	0.68633	GAA		PASS	0.458	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		35	105	35	105	---	---	---	---
CAPSL	133690	broad.mit.edu	37	5	35921196	35921196	+	Silent	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:35921196T>A	ENST00000397367.2	-	2	153	c.27A>T	c.(25-27)cgA>cgT	p.R9R	CAPSL_ENST00000397366.1_Silent_p.R9R|CAPSL_ENST00000514524.1_Silent_p.R9R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	9						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R9R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGCCATCTCTCGGTCATGGC	0.612																																						uc003jjt.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(25-27)CGA>CGT		calcyphosine-like							91.0	79.0	83.0					5																	35921196		2203	4300	6503	SO:0001819	synonymous_variant	133690					cytoplasm	calcium ion binding	g.chr5:35921196T>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.27A>T	5.37:g.35921196T>A						CAPSL_uc003jju.1_Silent_p.R9R	p.R9R	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		2	122	-	all_lung(31;0.000268)		9						Silent	SNP	ENST00000397367.2	37	c.27A>T	CCDS3912.2																																																																																				PASS	0.612	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		19	45	19	45	---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55195757	55195757	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:55195757C>A	ENST00000447346.2	+	8	931	c.866C>A	c.(865-867)gCc>gAc	p.A289D	IL31RA_ENST00000359040.5_Missense_Mutation_p.A289D|IL31RA_ENST00000396834.1_Missense_Mutation_p.A270D|IL31RA_ENST00000490985.1_Missense_Mutation_p.A147D|IL31RA_ENST00000396836.2_Missense_Mutation_p.A289D|IL31RA_ENST00000297015.3_Missense_Mutation_p.A147D|IL31RA_ENST00000354961.4_Missense_Mutation_p.A270D	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	257	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.A289D(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCAAGAGGAGCCCCAGTCCTA	0.433																																						uc003jql.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(865-867)GCC>GAC		gp130-like monocyte receptor							81.0	79.0	80.0					5																	55195757		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55195757C>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.866C>A	5.37:g.55195757C>A	ENSP00000415900:p.Ala289Asp					IL31RA_uc003jqk.2_Missense_Mutation_p.A289D|IL31RA_uc011cqj.1_Missense_Mutation_p.A147D|IL31RA_uc003jqm.2_Missense_Mutation_p.A257D|IL31RA_uc003jqn.2_Missense_Mutation_p.A289D|IL31RA_uc010iwa.1_Missense_Mutation_p.A257D|IL31RA_uc003jqo.2_Missense_Mutation_p.A147D	p.A289D	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			8	931	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	257			Extracellular (Potential).|Fibronectin type-III 3.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.866C>A	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863199	0.17250	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	4.56	2.56	0.30785	Fibronectin, type III (1);	0.701005	0.13777	N	0.363509	T	0.11580	0.0282	L	0.45581	1.43	0.37677	D	0.923351	B;B;B;B;B	0.31931	0.236;0.347;0.2;0.2;0.2	B;B;B;B;B	0.31751	0.052;0.135;0.083;0.083;0.083	T	0.11591	-1.0581	10	0.12103	T	0.63	-12.9148	2.7791	0.05356	0.1907:0.5239:0.1844:0.101	.	257;289;270;289;289	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	D	289;270;289;289;147;147;270	ENSP00000380048:A289D;ENSP00000380046:A270D;ENSP00000415900:A289D;ENSP00000351935:A289D;ENSP00000297015:A147D;ENSP00000427533:A147D;ENSP00000347047:A270D	ENSP00000297015:A147D	A	+	2	0	IL31RA	55231514	0.973000	0.33851	1.000000	0.80357	0.955000	0.61496	0.290000	0.18975	1.228000	0.43614	0.655000	0.94253	GCC		PASS	0.433	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		12	64	12	64	---	---	---	---
DEPDC1B	55789	broad.mit.edu	37	5	59893658	59893658	+	Silent	SNP	T	T	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:59893658T>C	ENST00000265036.5	-	11	1579	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	DEPDC1B_ENST00000453022.2_Silent_p.K442K|DEPDC1B_ENST00000545085.1_Silent_p.K415K	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	504					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K504K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTGGTTTCGGTTTGGGTTTTT	0.388																																						uc003jsh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1510-1512)AAA>AAG		DEP domain containing 1B isoform 1							171.0	167.0	168.0					5																	59893658		2203	4300	6503	SO:0001819	synonymous_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59893658T>C	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1512A>G	5.37:g.59893658T>C						DEPDC1B_uc011cqm.1_Silent_p.K442K|DEPDC1B_uc011cqn.1_Silent_p.K415K	p.K504K	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			11	1585	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	504					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Silent	SNP	ENST00000265036.5	37	c.1512A>G	CCDS3977.1																																																																																				PASS	0.388	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		3	126	3	126	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65344565	65344565	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:65344565C>T	ENST00000284037.5	+	19	2248	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S620F|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S620F|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S620F|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S616F|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S620F|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S620F|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S620F|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S620F	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	620					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.S620F(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ATTGAAACCTCTATTAACCAG	0.353																																						uc003juk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|central_nervous_system(2)	7						c.(1858-1860)TCT>TTT		ERBB2 interacting protein isoform 2							57.0	59.0	58.0					5																	65344565		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65344565C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1859C>T	5.37:g.65344565C>T	ENSP00000284037:p.Ser620Phe					ERBB2IP_uc003juh.1_Missense_Mutation_p.S616F|ERBB2IP_uc003jui.1_Missense_Mutation_p.S620F|ERBB2IP_uc003juj.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqx.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S616F|ERBB2IP_uc003jul.1_Missense_Mutation_p.S616F	p.S620F	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	19	2167	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	620					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1859C>T	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777953	0.90195	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25;3.25	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.996;0.996;0.991;0.997	T	0.00948	-1.1504	10	0.59425	D	0.04	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	620;620;620;616;620;620;620	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	F	620;620;620;620;620;620;616;620;620	ENSP00000284037:S620F;ENSP00000370330:S620F;ENSP00000370326:S620F;ENSP00000370323:S620F;ENSP00000370322:S620F;ENSP00000370325:S620F;ENSP00000422766:S616F;ENSP00000426632:S620F;ENSP00000422015:S620F	ENSP00000284037:S620F	S	+	2	0	ERBB2IP	65380321	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.589000	0.87451	0.467000	0.42956	TCT		PASS	0.353	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		9	55	9	55	---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94848321	94848321	+	Splice_Site	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:94848321G>A	ENST00000358746.2	-	28	3078	c.2780C>T	c.(2779-2781)aCt>aTt	p.T927I	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	927						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.T927I(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGCTCCTTCAGTCTTTAAAAA	0.333																																						uc003klb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2779-2781)ACT>ATT		tetratricopeptide repeat domain 37							132.0	113.0	120.0					5																	94848321		2203	4300	6503	SO:0001630	splice_region_variant	9652						binding	g.chr5:94848321G>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2779-1C>T	5.37:g.94848321G>A							p.T927I	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			28	3050	-			927					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.2780C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	7.931	0.740686	0.15642	.	.	ENSG00000198677	ENST00000358746	T	0.52295	0.67	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.155382	0.56097	D	0.000025	T	0.40094	0.1103	L	0.46157	1.445	0.45747	D	0.998641	B	0.24533	0.105	B	0.18871	0.023	T	0.16928	-1.0386	10	0.25751	T	0.34	.	12.8564	0.57888	0.0744:0.0:0.9256:0.0	.	927	Q6PGP7	TTC37_HUMAN	I	927	ENSP00000351596:T927I	ENSP00000351596:T927I	T	-	2	0	TTC37	94874077	1.000000	0.71417	0.914000	0.36105	0.076000	0.17211	6.005000	0.70716	2.620000	0.88729	0.491000	0.48974	ACT		PASS	0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Missense_Mutation	13	62	13	62	---	---	---	---
COMMD10	51397	broad.mit.edu	37	5	115628185	115628185	+	Silent	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:115628185G>A	ENST00000274458.4	+	7	670	c.608G>A	c.(607-609)tGa>tAa	p.*203*	COMMD10_ENST00000503424.1_3'UTR|COMMD10_ENST00000515539.1_Silent_p.*189*	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	0								p.*203*(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TCCCTTACATGATGTTTTCGA	0.373																																						uc003krt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(607-609)TGA>TAA		COMM domain containing 10							249.0	217.0	228.0					5																	115628185		2202	4300	6502	SO:0001819	synonymous_variant	51397						protein binding	g.chr5:115628185G>A	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.608G>A	5.37:g.115628185G>A							p.*203*	NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)	7	631	+		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)	203					D3DT07|Q9P077	Silent	SNP	ENST00000274458.4	37	c.608G>A	CCDS34215.1																																																																																				PASS	0.373	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		23	94	23	94	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132269995	132269996	+	Missense_Mutation	DNP	AG	AG	CA			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:132269995_132269996AG>CA	ENST00000265343.5	-	3	1140_1141	c.761_762CT>TG	c.(760-762)aCT>aTG	p.T254M	AFF4_ENST00000378595.3_Missense_Mutation_p.T254M|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	254	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T254T(1)|p.T254M(1)|p.T254I(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCACATAGGCAGTGGGTTTCTG	0.505																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|kidney(2)|skin(1)	5						c.(760-762)ACT>ACG|c.(760-762)ACT>ATT		ALL1 fused gene from 5q31																																				SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132269995A>C|g.chr5:132269996G>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.761_762delinsCA	5.37:g.132269995_132269996delinsCA	ENSP00000265343:p.Thr254Met					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Silent_p.T254T|AFF4_uc003kyf.3_Silent_p.T254T|AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.T254I|AFF4_uc003kyf.3_Missense_Mutation_p.T254I	p.T254T|p.T254I	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1170|1169	-		all_cancers(142;0.145)|Breast(839;0.198)	254			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent|Missense_Mutation	SNP	ENST00000265343.5	37	c.762T>G|c.761C>T	CCDS4164.1																																																																																				PASS	0.505	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		17|16	122|123	16	122	---	---	---	---
FAM13B	51306	broad.mit.edu	37	5	137284746	137284746	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:137284746G>T	ENST00000033079.3	-	17	2443	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V	FAM13B_ENST00000420893.2_Silent_p.V664V|FAM13B_ENST00000425075.2_Silent_p.V568V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	664					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.V568V(1)|p.V664V(1)		endometrium(4)|kidney(2)|lung(5)	11						CCTTCTGAATGACCTTGGGTT	0.383																																						uc003lbz.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1990-1992)GTC>GTA		hypothetical protein LOC51306 isoform 1							178.0	169.0	172.0					5																	137284746		2203	4300	6503	SO:0001819	synonymous_variant	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137284746G>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1992C>A	5.37:g.137284746G>T						FAM13B_uc003lcb.2_Silent_p.V568V|FAM13B_uc003lca.2_Silent_p.V664V	p.V664V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			17	2526	-			664					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Silent	SNP	ENST00000033079.3	37	c.1992C>A	CCDS4195.1																																																																																				PASS	0.383	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			4	142	4	142	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188054	140188054	+	Nonsense_Mutation	SNP	C	C	T	rs559892183		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140188054C>T	ENST00000530339.1	+	1	1282	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.R428*|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.R428*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R428*(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGAGACGGGGG	0.622													.|||	1	0.000199681	0.0	0.0	5008	,	,		19892	0.001		0.0	False		,,,				2504	0.0					uc003lhi.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(1282-1284)CGA>TGA		protocadherin alpha 4 isoform 1 precursor							114.0	114.0	114.0					5																	140188054		2203	4300	6503	SO:0001587	stop_gained	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188054C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1282C>T	5.37:g.140188054C>T	ENSP00000435300:p.Arg428*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.R428*|PCDHA4_uc011daa.1_Nonsense_Mutation_p.R428*	p.R428*	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1383	+			428			Cadherin 4.|Extracellular (Potential).		O75285|Q2M253	Nonsense_Mutation	SNP	ENST00000530339.1	37	c.1282C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	17.14	3.313302	0.60414	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	.	.	.	4.5	-5.46	0.02608	.	0.532290	0.13534	U	0.380741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.886	0.35402	0.6063:0.2545:0.0784:0.0608	.	.	.	.	X	428	.	ENSP00000349344:R428X	R	+	1	2	PCDHA4	140168238	0.000000	0.05858	0.000000	0.03702	0.899000	0.52679	-1.668000	0.01959	-0.881000	0.03992	0.580000	0.79431	CGA		PASS	0.622	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		36	122	36	122	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215252	140215252	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140215252G>T	ENST00000525929.1	+	1	1284	c.1284G>T	c.(1282-1284)cgG>cgT	p.R428R	PCDHA7_ENST00000378125.3_Silent_p.R428R|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R428R(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCGCGCGGGACGGGGGCT	0.622																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(1282-1284)CGG>CGT		protocadherin alpha 7 isoform 1 precursor							94.0	98.0	97.0					5																	140215252		2203	4300	6503	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215252G>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1284G>T	5.37:g.140215252G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R428R	p.R428R	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1284	+			428			Cadherin 4.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1284G>T	CCDS54918.1																																																																																				PASS	0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		35	159	35	159	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590315	140590315	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140590315C>T	ENST00000239450.2	+	1	2025	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PCDHB12_ENST00000541609.1_Silent_p.P275P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P612P(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGGAGCCCGGGCTATTCG	0.701																																						uc003liz.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(1834-1836)CCC>CCT		protocadherin beta 12 precursor							18.0	19.0	19.0					5																	140590315		1675	3529	5204	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590315C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1836C>T	5.37:g.140590315C>T						PCDHB12_uc011dak.1_Silent_p.P275P	p.P612P	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2025	+			612			Extracellular (Potential).|Cadherin 6.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1836C>T	CCDS4254.1																																																																																				PASS	0.701	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	139	12	139	---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720255	140720255	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140720255A>T	ENST00000394576.2	+	1	1717	c.1717A>T	c.(1717-1719)Act>Tct	p.T573S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T573S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGTTCCACTGGCGTGGA	0.627																																						uc003ljk.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1717-1719)ACT>TCT		protocadherin gamma subfamily A, 2 isoform 1							115.0	121.0	119.0					5																	140720255		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720255A>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1717A>T	5.37:g.140720255A>T	ENSP00000378077:p.Thr573Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T573S	p.T573S	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1902	+			573			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1717A>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	2.931	-0.221024	0.06061	.	.	ENSG00000081853	ENST00000394576	T	0.58210	0.35	4.88	3.71	0.42584	Cadherin-like (1);	0.172824	0.26899	U	0.021922	T	0.36853	0.0982	N	0.11673	0.155	0.09310	N	0.999998	B;B	0.24618	0.107;0.021	B;B	0.35240	0.198;0.025	T	0.36504	-0.9745	10	0.45353	T	0.12	.	10.5155	0.44887	0.9216:0.0:0.0784:0.0	.	573;573	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	573	ENSP00000378077:T573S	ENSP00000378077:T573S	T	+	1	0	PCDHGA2	140700439	0.000000	0.05858	0.462000	0.27118	0.144000	0.21451	0.143000	0.16115	0.821000	0.34540	0.397000	0.26171	ACT		PASS	0.627	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		42	154	42	154	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140799073	140799073	+	Silent	SNP	C	C	T	rs527369615		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140799073C>T	ENST00000398594.2	+	1	1647	c.1647C>T	c.(1645-1647)cgC>cgT	p.R549R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R549R(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGCGCGTGTTGGTGG	0.726																																						uc003lkn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1645-1647)CGC>CGT		protocadherin gamma subfamily B, 7 isoform 1							28.0	34.0	32.0					5																	140799073		2076	4197	6273	SO:0001819	synonymous_variant	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799073C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1647C>T	5.37:g.140799073C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.R549R|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.R549R	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1792	+			549			Extracellular (Potential).|Cadherin 5.		Q9UN63	Silent	SNP	ENST00000398594.2	37	c.1647C>T	CCDS47293.1																																																																																				PASS	0.726	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		6	50	6	50	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801878	140801878	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140801878C>T	ENST00000398587.2	+	1	1117	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.P362S|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	362	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P362S(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACTCTCCTCCAGGTAC	0.388																																						uc003lkq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1084-1086)CCT>TCT		protocadherin gamma subfamily A, 11 isoform 1							32.0	32.0	32.0					5																	140801878		1836	4082	5918	SO:0001583	missense	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801878C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1084C>T	5.37:g.140801878C>T	ENSP00000381589:p.Pro362Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.P362S|PCDHGA11_uc003lkp.1_Missense_Mutation_p.P362S	p.P362S	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1342	+			362			Extracellular (Potential).|Cadherin 4.		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1084C>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	c	8.357	0.832215	0.16820	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.54279	0.58;0.58	5.82	5.82	0.92795	Cadherin (3);Cadherin-like (1);	0.000000	0.29253	U	0.012691	T	0.55862	0.1947	M	0.74389	2.26	0.09310	N	1	B;P;B	0.42556	0.164;0.783;0.251	B;B;B	0.40636	0.219;0.335;0.23	T	0.57734	-0.7760	10	0.37606	T	0.19	.	15.2255	0.73348	0.0:0.8598:0.1402:0.0	.	362;362;362	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	S	362	ENSP00000381589:P362S;ENSP00000428333:P362S	ENSP00000381589:P362S	P	+	1	0	PCDHGA11	140782062	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	-0.720000	0.04969	2.752000	0.94435	0.655000	0.94253	CCT		PASS	0.388	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		6	33	6	33	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812405	140812405	+	Silent	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:140812405G>C	ENST00000252085.3	+	1	2221	c.2079G>C	c.(2077-2079)ctG>ctC	p.L693L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	693					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L693L(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTACCTGGTGGTAGCGG	0.652																																						uc003lkt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2077-2079)CTG>CTC		protocadherin gamma subfamily A, 12 isoform 1							90.0	102.0	98.0					5																	140812405		2202	4298	6500	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140812405G>C	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2079G>C	5.37:g.140812405G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L693L	p.L693L	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2248	+			693			Helical; (Potential).		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.2079G>C	CCDS4260.1																																																																																				PASS	0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		32	147	32	147	---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149907838	149907838	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:149907838G>T	ENST00000261797.6	+	3	1488	c.986G>T	c.(985-987)cGc>cTc	p.R329L	NDST1_ENST00000523767.1_Missense_Mutation_p.R329L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	329	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.R329L(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGCACACGCATGAAGGTG	0.632																																						uc003lsk.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(985-987)CGC>CTC		N-deacetylase/N-sulfotransferase (heparan							66.0	62.0	63.0					5																	149907838		2203	4299	6502	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149907838G>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.986G>T	5.37:g.149907838G>T	ENSP00000261797:p.Arg329Leu					NDST1_uc011dcj.1_Missense_Mutation_p.R329L|NDST1_uc003lsl.2_Missense_Mutation_p.R329L	p.R329L	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1488	+		all_hematologic(541;0.224)	329			Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.986G>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285751	0.95517	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.56103	0.48;0.76	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85347	0.1099	10	0.87932	D	0	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	329;329;329	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	L	329	ENSP00000428604:R329L;ENSP00000261797:R329L	ENSP00000261797:R329L	R	+	2	0	NDST1	149888031	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.731000	0.98807	2.494000	0.84150	0.555000	0.69702	CGC		PASS	0.632	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		19	59	19	59	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154397042	154397042	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:154397042C>T	ENST00000435029.4	+	1	3783	c.3623C>T	c.(3622-3624)cCa>cTa	p.P1208L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1208	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.P1208L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATAAGCCTCCAGGGAAGAAA	0.507																																						uc010jih.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3622-3624)CCA>CTA		kinesin family member 4B							47.0	50.0	49.0					5																	154397042		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154397042C>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3623C>T	5.37:g.154397042C>T	ENSP00000387875:p.Pro1208Leu						p.P1208L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	3783	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	1208			Interaction with PRC1 (By similarity).|Globular (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.3623C>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	C	0.985	-0.695824	0.03279	.	.	ENSG00000226650	ENST00000435029	T	0.41758	0.99	1.77	1.77	0.24775	.	.	.	.	.	T	0.26666	0.0652	L	0.40543	1.245	0.38614	D	0.950974	B	0.06786	0.001	B	0.08055	0.003	T	0.14868	-1.0457	9	0.02654	T	1	.	9.5105	0.39074	0.0:1.0:0.0:0.0	.	1208	Q2VIQ3	KIF4B_HUMAN	L	1208	ENSP00000387875:P1208L	ENSP00000387875:P1208L	P	+	2	0	KIF4B	154377235	1.000000	0.71417	0.913000	0.36048	0.769000	0.43574	3.337000	0.52120	1.290000	0.44636	0.563000	0.77884	CCA		PASS	0.507	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			11	31	11	31	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590131	156590131	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:156590131G>T	ENST00000302938.4	-	2	1240	c.1145C>A	c.(1144-1146)aCc>aAc	p.T382N		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	382						nucleus (GO:0005634)		p.T382N(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTGCTGGTCGTAATACT	0.572																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1144-1146)ACC>AAC		family with sequence similarity 71, member B							47.0	49.0	48.0					5																	156590131		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590131G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1145C>A	5.37:g.156590131G>T	ENSP00000305596:p.Thr382Asn						p.T382N	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1245	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	382					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1145C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520862	0.44866	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	3.83	2.95	0.34219	.	0.314558	0.23165	N	0.051186	T	0.43122	0.1233	M	0.78801	2.425	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.13980	-1.0489	10	0.72032	D	0.01	-18.4181	9.0093	0.36131	0.0:0.0:0.781:0.219	.	382	Q8TC56	FA71B_HUMAN	N	382	ENSP00000305596:T382N	ENSP00000305596:T382N	T	-	2	0	FAM71B	156522709	0.045000	0.20229	0.011000	0.14972	0.002000	0.02628	2.344000	0.44010	1.174000	0.42811	0.561000	0.74099	ACC		PASS	0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		15	55	15	55	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590133	156590133	+	Silent	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:156590133C>G	ENST00000302938.4	-	2	1238	c.1143G>C	c.(1141-1143)acG>acC	p.T381T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	381						nucleus (GO:0005634)		p.T381T(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTGCTGGTCGTAATACTGC	0.572																																						uc003lwn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1141-1143)ACG>ACC		family with sequence similarity 71, member B							45.0	47.0	47.0					5																	156590133		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590133C>G		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1143G>C	5.37:g.156590133C>G							p.T381T	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1243	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	381					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1143G>C	CCDS4335.1																																																																																				PASS	0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		17	55	17	55	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590401	156590401	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:156590401G>T	ENST00000302938.4	-	2	970	c.875C>A	c.(874-876)gCa>gAa	p.A292E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	292	Ala-rich.					nucleus (GO:0005634)		p.A292E(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCACCTGTTGCAGGACTCAT	0.537																																						uc003lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(874-876)GCA>GAA		family with sequence similarity 71, member B							134.0	116.0	122.0					5																	156590401		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590401G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.875C>A	5.37:g.156590401G>T	ENSP00000305596:p.Ala292Glu						p.A292E	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	975	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	292			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.875C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.480559	0.01027	.	.	ENSG00000170613	ENST00000302938	T	0.03689	3.84	3.85	-0.0333	0.13901	.	2.358640	0.01766	N	0.030847	T	0.03263	0.0095	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.41928	-0.9481	10	0.06757	T	0.87	0.3106	4.1205	0.10103	0.3029:0.1722:0.5249:0.0	.	292	Q8TC56	FA71B_HUMAN	E	292	ENSP00000305596:A292E	ENSP00000305596:A292E	A	-	2	0	FAM71B	156522979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.068000	0.11561	-0.036000	0.13669	-0.801000	0.03215	GCA		PASS	0.537	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		37	138	37	138	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168201328	168201328	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:168201328G>C	ENST00000519560.1	-	13	1626	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	SLIT3_ENST00000404867.3_Missense_Mutation_p.Q403E|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q403E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	403					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Q403E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGGTTCTGCAGGTCCTGA	0.517																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1207-1209)CAG>GAG		slit homolog 3 precursor							250.0	237.0	241.0					5																	168201328		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168201328G>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1207C>G	5.37:g.168201328G>C	ENSP00000430333:p.Gln403Glu					SLIT3_uc010jjg.2_Missense_Mutation_p.Q403E|SLIT3_uc010jji.2_Missense_Mutation_p.Q403E|SLIT3_uc003mac.1_Missense_Mutation_p.Q200E	p.Q403E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1627	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	403					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1207C>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369936	0.61624	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.24151	1.87;1.87;1.87	5.5	5.5	0.81552	.	0.106561	0.64402	D	0.000002	T	0.20210	0.0486	N	0.16833	0.445	0.80722	D	1	P;B;B	0.34955	0.477;0.337;0.009	B;B;B	0.34242	0.178;0.097;0.034	T	0.03898	-1.0994	10	0.45353	T	0.12	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	403;403;403	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	E	403	ENSP00000430333:Q403E;ENSP00000332164:Q403E;ENSP00000384890:Q403E	ENSP00000332164:Q403E	Q	-	1	0	SLIT3	168133906	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	CAG		PASS	0.517	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		64	211	64	211	---	---	---	---
ERGIC1	57222	broad.mit.edu	37	5	172351073	172351073	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr5:172351073G>T	ENST00000393784.3	+	6	580	c.441G>T	c.(439-441)acG>acT	p.T147T		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	147					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T147T(2)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGACATGACGCATGTCATCC	0.602																																						uc003mbw.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(2)|ovary(1)	3						c.(439-441)ACG>ACT		endoplasmic reticulum-golgi intermediate							93.0	82.0	86.0					5																	172351073		2203	4300	6503	SO:0001819	synonymous_variant	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172351073G>T	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.441G>T	5.37:g.172351073G>T						ERGIC1_uc003mby.3_Silent_p.T55T|ERGIC1_uc011dfa.1_Silent_p.T92T	p.T147T	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	635	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	147			Lumenal (Potential).		Q9H0L0|Q9H2J2|Q9ULN9	Silent	SNP	ENST00000393784.3	37	c.441G>T	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	G	8.994	0.978494	0.18812	.	.	ENSG00000113719	ENST00000519567	.	.	.	5.24	-2.77	0.05877	.	.	.	.	.	T	0.39835	0.1093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32188	-0.9916	4	.	.	.	-20.7096	2.4307	0.04470	0.5049:0.1351:0.2375:0.1225	.	.	.	.	L	136	.	.	R	+	2	0	ERGIC1	172283679	0.016000	0.18221	0.969000	0.41365	0.867000	0.49689	-0.951000	0.03885	-0.345000	0.08325	-0.463000	0.05309	CGC		PASS	0.602	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		5	30	5	30	---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33403080	33403080	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:33403080G>A	ENST00000418600.2	+	6	762	c.661G>A	c.(661-663)Gag>Aag	p.E221K	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.E162K|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.E221K|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	221	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.E221K(1)|p.E206K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTTCTGTTTTGAGGTACTGGG	0.562																																						uc011dri.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(661-663)GAG>AAG		synaptic Ras GTPase activating protein 1							79.0	74.0	76.0					6																	33403080		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403080G>A	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.661G>A	6.37:g.33403080G>A	ENSP00000403636:p.Glu221Lys					SYNGAP1_uc003oeo.1_Missense_Mutation_p.E206K|SYNGAP1_uc010juy.2_Missense_Mutation_p.E206K|SYNGAP1_uc010juz.2_5'Flank	p.E221K	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			6	856	+			221			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.661G>A	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048699	0.75846	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.92647	-3.08;-3.08;-3.08	4.42	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.180087	0.46758	D	0.000263	D	0.88258	0.6388	M	0.65975	2.015	0.80722	D	1	B;B;B	0.28291	0.131;0.206;0.053	B;B;B	0.31101	0.058;0.124;0.096	D	0.89632	0.3856	10	0.87932	D	0	.	14.5509	0.68065	0.0:0.0:1.0:0.0	.	221;221;221	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	K	221;221;221;162	ENSP00000293748:E221K;ENSP00000403636:E221K;ENSP00000412475:E162K	ENSP00000293748:E221K	E	+	1	0	SYNGAP1	33511058	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.657000	0.98554	2.276000	0.75962	0.591000	0.81541	GAG		PASS	0.562	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		35	31	35	31	---	---	---	---
DEF6	50619	broad.mit.edu	37	6	35278241	35278241	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:35278241G>T	ENST00000316637.5	+	3	248	c.243G>T	c.(241-243)gaG>gaT	p.E81D	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	81						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E81D(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCAGGTGGAGGAGGGGGCTT	0.542																																						uc003okk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GAG>GAT		differentially expressed in FDCP 6 homolog							100.0	90.0	93.0					6																	35278241		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35278241G>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.243G>T	6.37:g.35278241G>T	ENSP00000319831:p.Glu81Asp					DEF6_uc010jvs.2_Missense_Mutation_p.E81D|DEF6_uc010jvt.2_Translation_Start_Site	p.E81D	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			3	282	+			81					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.243G>T	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233898	0.39498	.	.	ENSG00000023892	ENST00000316637	T	0.12569	2.67	5.32	-0.141	0.13452	.	0.110324	0.64402	D	0.000012	T	0.02807	0.0084	L	0.44542	1.39	0.80722	D	1	P;P	0.45428	0.858;0.665	B;B	0.25614	0.062;0.062	T	0.49790	-0.8902	10	0.28530	T	0.3	-32.5038	10.9786	0.47480	0.5023:0.0:0.4977:0.0	.	81;81	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	D	81	ENSP00000319831:E81D	ENSP00000319831:E81D	E	+	3	2	DEF6	35386219	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.519000	0.35888	0.016000	0.14998	-0.258000	0.10820	GAG		PASS	0.542	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		25	40	25	40	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69349089	69349089	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:69349089G>T	ENST00000370598.1	+	3	1343	c.522G>T	c.(520-522)tgG>tgT	p.W174C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	174					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W174C(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATGTACTTGGTTGGAGAGCT	0.418																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(520-522)TGG>TGT		brain-specific angiogenesis inhibitor 3							76.0	76.0	76.0					6																	69349089		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349089G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.522G>T	6.37:g.69349089G>T	ENSP00000359630:p.Trp174Cys					BAI3_uc010kak.2_Missense_Mutation_p.W174C	p.W174C	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	970	+		all_lung(197;0.212)	174			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.522G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959496	0.53400	.	.	ENSG00000135298	ENST00000370598	T	0.34859	1.34	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000003	T	0.50343	0.1610	L	0.55990	1.75	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.52426	-0.8577	10	0.87932	D	0	.	19.1611	0.93533	0.0:0.0:1.0:0.0	.	174	O60242	BAI3_HUMAN	C	174	ENSP00000359630:W174C	ENSP00000359630:W174C	W	+	3	0	BAI3	69405810	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.610000	0.88304	0.655000	0.94253	TGG		PASS	0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			44	44	44	44	---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117037477	117037477	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:117037477G>T	ENST00000368564.1	+	8	900	c.752G>T	c.(751-753)aGt>aTt	p.S251I	KPNA5_ENST00000356348.1_Missense_Mutation_p.S251I			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	248					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.S251I(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CCAAACTTTAGTAAGGTATGA	0.328																																						uc003pxh.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(751-753)AGT>ATT		karyopherin alpha 5							45.0	46.0	45.0					6																	117037477		2203	4299	6502	SO:0001583	missense	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117037477G>T	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.752G>T	6.37:g.117037477G>T	ENSP00000357552:p.Ser251Ile						p.S251I	NM_002269	NP_002260	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	8	883	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	248			ARM 5.		B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	c.752G>T	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568890	0.45798	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.29397	1.57;1.57	5.31	5.31	0.75309	Armadillo-like helical (1);Armadillo-type fold (1);	0.143015	0.49305	D	0.000160	T	0.19248	0.0462	M	0.71036	2.16	0.30614	N	0.759236	B	0.26577	0.153	B	0.21151	0.033	T	0.10613	-1.0622	10	0.59425	D	0.04	.	12.3361	0.55067	0.078:0.0:0.922:0.0	.	248	O15131	IMA5_HUMAN	I	251	ENSP00000357552:S251I;ENSP00000348704:S251I	ENSP00000348704:S251I	S	+	2	0	KPNA5	117144170	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.464000	0.45067	2.479000	0.83701	0.555000	0.69702	AGT		PASS	0.328	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269		27	33	27	33	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117248301	117248301	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:117248301C>T	ENST00000332958.2	+	17	2013	c.1997C>T	c.(1996-1998)cCa>cTa	p.P666L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	666					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.P666L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGGAGGCCCCCAAGTGTGGGC	0.527																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1996-1998)CCA>CTA		regulatory factor X, 6							137.0	131.0	133.0					6																	117248301		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248301C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1997C>T	6.37:g.117248301C>T	ENSP00000332208:p.Pro666Leu						p.P666L	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			17	2060	+			666					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1997C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999024	0.54147	.	.	ENSG00000185002	ENST00000332958	T	0.55930	0.49	5.68	4.76	0.60689	.	0.445834	0.26669	N	0.023112	T	0.33904	0.0879	L	0.44542	1.39	0.54753	D	0.999985	P	0.36282	0.546	B	0.35550	0.205	T	0.31971	-0.9924	10	0.46703	T	0.11	-8.7601	15.4388	0.75168	0.1395:0.8605:0.0:0.0	.	666	Q8HWS3	RFX6_HUMAN	L	666	ENSP00000332208:P666L	ENSP00000332208:P666L	P	+	2	0	RFX6	117354994	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	2.193000	0.42658	2.682000	0.91365	0.655000	0.94253	CCA		PASS	0.527	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		59	90	59	90	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126176353	126176353	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr6:126176353A>G	ENST00000368357.3	+	4	590	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Missense_Mutation_p.R80G|NCOA7_ENST00000487635.1_3'UTR	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	80					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.R80G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AAAGGAGATCAGGCGTACAGA	0.313																																						uc010kes.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(238-240)AGG>GGG		nuclear receptor coactivator 7 isoform 1							99.0	111.0	107.0					6																	126176353		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176353A>G	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.238A>G	6.37:g.126176353A>G	ENSP00000357341:p.Arg80Gly					NCOA7_uc003qae.3_Missense_Mutation_p.R80G|NCOA7_uc003qah.2_Missense_Mutation_p.R80G|NCOA7_uc003qai.2_Missense_Mutation_p.R80G|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.R80G|NCOA7_uc003qag.2_Missense_Mutation_p.R80G|NCOA7_uc003qaj.2_Missense_Mutation_p.R80G	p.R80G	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	5	687	+			80					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.238A>G	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087215	0.76642	.	.	ENSG00000111912	ENST00000368357;ENST00000431092;ENST00000392477;ENST00000453302;ENST00000417494;ENST00000428318;ENST00000419660	T;T;T;T	0.63255	2.51;2.51;0.64;-0.03	5.39	5.39	0.77823	.	0.102622	0.64402	D	0.000013	T	0.62429	0.2427	L	0.29908	0.895	0.80722	D	1	P;P;D;D	0.89917	0.827;0.868;1.0;0.996	P;P;D;P	0.83275	0.526;0.526;0.996;0.906	T	0.69146	-0.5222	10	0.87932	D	0	-26.7468	14.1421	0.65327	1.0:0.0:0.0:0.0	.	80;80;80;80	Q8NI08-6;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	G	80	ENSP00000357341:R80G;ENSP00000376269:R80G;ENSP00000406363:R80G;ENSP00000408211:R80G	ENSP00000357341:R80G	R	+	1	2	NCOA7	126218046	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	3.857000	0.55972	2.267000	0.75376	0.528000	0.53228	AGG		PASS	0.313	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		3	160	3	160	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31617997	31617997	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr7:31617997G>C	ENST00000407970.3	+	8	1157	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	CCDC129_ENST00000451887.2_Missense_Mutation_p.K399N|CCDC129_ENST00000409210.1_Missense_Mutation_p.K281N|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	373								p.K373N(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACAAGCTCAAGAGCTTGTCTC	0.498																																						uc003tcj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)AAG>AAC		coiled-coil domain containing 129							51.0	50.0	50.0					7																	31617997		1982	4163	6145	SO:0001583	missense	223075							g.chr7:31617997G>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1119G>C	7.37:g.31617997G>C	ENSP00000384416:p.Lys373Asn					CCDC129_uc011kad.1_Missense_Mutation_p.K383N|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.K399N|CCDC129_uc003tck.1_Missense_Mutation_p.K281N	p.K373N	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	2112	+			373					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1119G>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759537	0.49468	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.22336	2.22;2.21;1.96	5.61	3.73	0.42828	.	.	.	.	.	T	0.40040	0.1101	M	0.66939	2.045	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65987	0.94;0.94;0.94	T	0.12915	-1.0529	8	.	.	.	-4.1235	9.3706	0.38252	0.2146:0.0:0.7854:0.0	.	399;383;373	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	N	373;399;383;281	ENSP00000384416:K373N;ENSP00000395835:K399N;ENSP00000387214:K281N	.	K	+	3	2	CCDC129	31584522	0.605000	0.26941	0.001000	0.08648	0.011000	0.07611	2.155000	0.42301	0.776000	0.33473	0.655000	0.94253	AAG		PASS	0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		20	72	20	72	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34182925	34182925	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr7:34182925A>C	ENST00000297161.2	+	15	2203	c.1829A>C	c.(1828-1830)cAg>cCg	p.Q610P	BMPER_ENST00000426693.1_Missense_Mutation_p.Q610P	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	610					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.Q610P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGGGCCTGCCAGAGAGAGGGC	0.473																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1828-1830)CAG>CCG		BMP-binding endothelial regulator precursor							106.0	108.0	107.0					7																	34182925		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34182925A>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1829A>C	7.37:g.34182925A>C	ENSP00000297161:p.Gln610Pro						p.Q610P	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			14	1943	+			610					A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1829A>C	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189558	0.57909	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.78246	-1.16;-1.16	5.76	5.76	0.90799	Uncharacterised domain, cysteine-rich (2);	0.332477	0.35903	N	0.002907	T	0.77226	0.4099	M	0.76328	2.33	0.43902	D	0.996536	P	0.45283	0.855	B	0.41764	0.366	T	0.78650	-0.2121	10	0.44086	T	0.13	.	11.4613	0.50213	0.8657:0.0:0.0:0.1343	.	610	Q8N8U9	BMPER_HUMAN	P	610	ENSP00000297161:Q610P;ENSP00000393950:Q610P	ENSP00000297161:Q610P	Q	+	2	0	BMPER	34149450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.442000	0.73443	2.323000	0.78572	0.528000	0.53228	CAG		PASS	0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		54	86	54	86	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81667449	81667449	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr7:81667449T>C	ENST00000356253.5	-	11	1237	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K328E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	328	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K328E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	gtaattcctttggctGTGATA	0.353																																						uc003uhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(982-984)AAA>GAA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						160.0	157.0	158.0					7																	81667449		2202	4300	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667449T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.982A>G	7.37:g.81667449T>C	ENSP00000348589:p.Lys328Glu						p.K328E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			11	1238	-			328			Extracellular (Potential).|VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.982A>G		.	.	.	.	.	.	.	.	.	.	T	27.9	4.873752	0.91664	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.83506	-1.73;-1.73	6.07	6.07	0.98685	.	0.047245	0.85682	N	0.000000	T	0.79522	0.4460	L	0.27944	0.81	0.80722	D	1	P	0.40660	0.726	P	0.44394	0.448	T	0.80761	-0.1238	10	0.51188	T	0.08	-20.7999	16.635	0.85050	0.0:0.0:0.0:1.0	.	328	P54289-2	.	E	328	ENSP00000349320:K328E;ENSP00000348589:K328E	ENSP00000284088:K328E	K	-	1	0	CACNA2D1	81505385	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.030000	0.70903	2.330000	0.79161	0.477000	0.44152	AAA		PASS	0.353	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				39	64	39	64	---	---	---	---
POT1	25913	broad.mit.edu	37	7	124499166	124499166	+	Splice_Site	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr7:124499166C>A	ENST00000357628.3	-	9	1145	c.547G>T	c.(547-549)Gta>Tta	p.V183L	POT1_ENST00000393329.1_Splice_Site_p.V52L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	183					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	uc003vlm.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(547-549)GTA>TTA		protection of telomeres 1 isoform 1							55.0	55.0	55.0					7																	124499166		2203	4300	6503	SO:0001630	splice_region_variant	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124499166C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.547-1G>T	7.37:g.124499166C>A						POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.V52L|POT1_uc003vln.2_RNA	p.V183L	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN			9	1148	-			183					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.547G>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778544	0.90195	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.64991	-0.03;-0.13	5.98	5.98	0.97165	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.79475	2.455	0.58432	D	0.999996	D	0.76494	0.999	D	0.71656	0.974	T	0.76903	-0.2787	10	0.36615	T	0.2	-10.0886	19.4402	0.94817	0.0:1.0:0.0:0.0	.	183	Q9NUX5	POTE1_HUMAN	L	183;52;183;183;183;182	ENSP00000350249:V183L;ENSP00000377002:V52L	ENSP00000265391:V182L	V	-	1	0	POT1	124286402	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.957000	0.70323	2.838000	0.97847	0.591000	0.81541	GTA		PASS	0.353	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		Missense_Mutation	18	20	18	20	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143747807	143747807	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr7:143747807A>G	ENST00000408906.2	+	1	347	c.313A>G	c.(313-315)Atg>Gtg	p.M105V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M105V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTTTTTATACATGGCTTTTGC	0.438																																						uc011ktw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(313-315)ATG>GTG		olfactory receptor, family 2, subfamily A,							157.0	154.0	155.0					7																	143747807		2092	4255	6347	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747807A>G	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.313A>G	7.37:g.143747807A>G	ENSP00000386208:p.Met105Val						p.M105V	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	313	+	Melanoma(164;0.0783)		105			Helical; Name=3; (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.313A>G	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557899	0.27827	.	.	ENSG00000221836	ENST00000408906	T	0.00530	6.77	5.37	-0.393	0.12438	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	N	0.04994	-0.135	0.22719	N	0.998815	B	0.06786	0.001	B	0.06405	0.002	T	0.44711	-0.9310	9	0.72032	D	0.01	.	1.5641	0.02601	0.3586:0.2861:0.0788:0.2766	.	105	Q96R48	OR2A5_HUMAN	V	105	ENSP00000386208:M105V	ENSP00000386208:M105V	M	+	1	0	OR2A5	143378740	0.000000	0.05858	0.981000	0.43875	0.944000	0.59088	-1.103000	0.03329	0.092000	0.17331	0.528000	0.53228	ATG		PASS	0.438	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			18	129	18	129	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464903	10464903	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:10464903C>T	ENST00000382483.3	-	4	6928	c.6705G>A	c.(6703-6705)ggG>ggA	p.G2235G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2315	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G2235G(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGGGCCTCCCCTTCAGCCT	0.592																																						uc003wtc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6703-6705)GGG>GGA		retinitis pigmentosa 1-like 1							96.0	103.0	101.0					8																	10464903		1920	4124	6044	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10464903C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6705G>A	8.37:g.10464903C>T							p.G2235G	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6934	-			2235					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6705G>A	CCDS43708.1																																																																																				PASS	0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			23	118	23	118	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25234906	25234906	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:25234906A>G	ENST00000276440.7	+	38	3946	c.3902A>G	c.(3901-3903)tAt>tGt	p.Y1301C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1301	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Y1301C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAGAAGCTGTATCAAGAAATC	0.393																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3901-3903)TAT>TGT		dedicator of cytokinesis 5							104.0	92.0	96.0					8																	25234906		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25234906A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3902A>G	8.37:g.25234906A>G	ENSP00000276440:p.Tyr1301Cys					PPP2R2A_uc003xek.2_Missense_Mutation_p.Y90C|DOCK5_uc003xei.2_Missense_Mutation_p.Y871C|DOCK5_uc003xej.2_RNA	p.Y1301C	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	38	4039	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1301			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3902A>G	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875377	0.72180	.	.	ENSG00000147459	ENST00000276440	T	0.01871	4.59	5.46	5.46	0.80206	.	0.130224	0.53938	D	0.000047	T	0.11537	0.0281	M	0.67397	2.05	0.48511	D	0.999665	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.995	T	0.00438	-1.1739	10	0.62326	D	0.03	.	15.5402	0.76039	1.0:0.0:0.0:0.0	.	90;1291;1301	Q6ZP32;D3DSS6;Q9H7D0	.;.;DOCK5_HUMAN	C	1301	ENSP00000276440:Y1301C	ENSP00000276440:Y1301C	Y	+	2	0	DOCK5	25290823	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.560000	0.60802	2.080000	0.62538	0.528000	0.53228	TAT		PASS	0.393	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		7	37	7	37	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120435214	120435214	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:120435214A>G	ENST00000259526.3	+	5	1143	c.916A>G	c.(916-918)Acc>Gcc	p.T306A	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.T306A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TCCCCACAATACCAAAACCAT	0.552																																						uc003yoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(916-918)ACC>GCC		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						114.0	111.0	112.0					8																	120435214		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120435214A>G	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.916A>G	8.37:g.120435214A>G	ENSP00000259526:p.Thr306Ala						p.T306A	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		5	1137	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		306			CTCK.			Missense_Mutation	SNP	ENST00000259526.3	37	c.916A>G	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876737	0.91664	.	.	ENSG00000136999	ENST00000259526	T	0.16196	2.36	5.85	5.85	0.93711	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.86268	2.805	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.54675	-0.8258	10	0.87932	D	0	-25.487	16.2268	0.82300	1.0:0.0:0.0:0.0	.	306	P48745	NOV_HUMAN	A	306	ENSP00000259526:T306A	ENSP00000259526:T306A	T	+	1	0	NOV	120504395	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.511000	0.81718	2.235000	0.73313	0.528000	0.53228	ACC		PASS	0.552	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		18	107	18	107	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125083789	125083789	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:125083789G>C	ENST00000522917.1	+	31	4215	c.4009G>C	c.(4009-4011)Gag>Cag	p.E1337Q	FER1L6_ENST00000399018.1_Missense_Mutation_p.E1337Q|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1337						integral component of membrane (GO:0016021)		p.E1337Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCTAGCTCTGAGGACAGCGG	0.512																																						uc003yqw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4009-4011)GAG>CAG		fer-1-like 6							77.0	79.0	78.0					8																	125083789		1893	4118	6011	SO:0001583	missense	654463					integral to membrane		g.chr8:125083789G>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4009G>C	8.37:g.125083789G>C	ENSP00000428280:p.Glu1337Gln					uc003yqy.1_Intron	p.E1337Q	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		31	4215	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1337			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.4009G>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786644	0.31593	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82255	-1.59;-1.59	6.17	5.3	0.74995	C2 calcium/lipid-binding domain, CaLB (1);	0.687859	0.14171	U	0.336751	T	0.67373	0.2886	N	0.20685	0.6	0.31502	N	0.664632	P	0.40000	0.698	B	0.35550	0.205	T	0.65384	-0.6181	10	0.14656	T	0.56	-18.0445	8.5073	0.33195	0.1372:0.1357:0.7271:0.0	.	1337	Q2WGJ9	FR1L6_HUMAN	Q	1337	ENSP00000428280:E1337Q;ENSP00000381982:E1337Q	ENSP00000381982:E1337Q	E	+	1	0	FER1L6	125152970	0.977000	0.34250	0.913000	0.36048	0.246000	0.25737	1.764000	0.38471	1.631000	0.50456	0.655000	0.94253	GAG		PASS	0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		9	61	9	61	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630959	140630959	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:140630959A>T	ENST00000520439.1	-	2	730	c.667T>A	c.(667-669)Ttt>Att	p.F223I	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.F223I	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	223					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F223I(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	ATAAAGCTAAAGGCCACGTAG	0.562																																						uc003yvf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(667-669)TTT>ATT		potassium channel, subfamily K, member 9							55.0	60.0	58.0					8																	140630959		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630959A>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.667T>A	8.37:g.140630959A>T	ENSP00000430676:p.Phe223Ile					KCNK9_uc003yvg.1_Missense_Mutation_p.F223I|KCNK9_uc003yve.1_RNA	p.F223I	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	731	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	223			Helical; (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.667T>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731493	0.89390	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.32272	1.46;1.46;1.46	5.7	5.7	0.88788	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	L	0.45285	1.41	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.34675	-0.9819	10	0.40728	T	0.16	.	15.1546	0.72730	1.0:0.0:0.0:0.0	.	223	Q9NPC2	KCNK9_HUMAN	I	223	ENSP00000429847:F223I;ENSP00000302166:F223I;ENSP00000430676:F223I	ENSP00000302166:F223I	F	-	1	0	KCNK9	140700141	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.117000	0.94347	2.159000	0.67721	0.533000	0.62120	TTT		PASS	0.562	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		9	67	9	67	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143958589	143958589	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr8:143958589G>T	ENST00000292427.4	-	3	477	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	CYP11B1_ENST00000517471.1_Missense_Mutation_p.L149M|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L220M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	149					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.L149M(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)	TTGGGCGACAGCACTTCTGGA	0.627									Familial Hyperaldosteronism type I																													uc003yxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(445-447)CTG>ATG		cytochrome P450, family 11, subfamily B,	Mitotane(DB00648)						74.0	60.0	65.0					8																	143958589		2203	4300	6503	SO:0001583	missense	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.chr8:143958589G>T	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.445C>A	8.37:g.143958589G>T	ENSP00000292427:p.Leu149Met					CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.L149M|CYP11B1_uc010mey.2_Missense_Mutation_p.L220M	p.L149M	NM_000497	NP_000488	P15538	C11B1_HUMAN			3	452	-	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)		149					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.445C>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	12.65	2.001993	0.35320	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.72615	-0.67;2.37;-0.67	3.74	1.67	0.24075	.	0.173536	0.27577	N	0.018742	T	0.70211	0.3198	L	0.42008	1.315	0.28430	N	0.917315	D;P;D	0.89917	0.972;0.95;1.0	P;P;D	0.97110	0.896;0.896;1.0	T	0.59952	-0.7357	10	0.16896	T	0.51	.	3.7177	0.08444	0.1331:0.0:0.6248:0.242	.	220;149;149	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	M	149;149;220	ENSP00000292427:L149M;ENSP00000428043:L149M;ENSP00000366903:L220M	ENSP00000292427:L149M	L	-	1	2	CYP11B1	143955591	0.995000	0.38212	0.008000	0.14137	0.045000	0.14185	1.815000	0.38981	0.849000	0.35215	0.555000	0.69702	CTG		PASS	0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			4	40	4	40	---	---	---	---
TPD52L3	89882	broad.mit.edu	37	9	6328676	6328676	+	Silent	SNP	C	C	T	rs371715772		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr9:6328676C>T	ENST00000344545.5	+	1	328	c.81C>T	c.(79-81)ccC>ccT	p.P27P	TPD52L3_ENST00000314556.3_Silent_p.P27P|TPD52L3_ENST00000381428.1_Silent_p.P27P	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	27								p.P27P(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TGACAGAGCCCGAGCAAAGAG	0.502																																						uc003zjw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(79-81)CCC>CCT		protein kinase NYD-SP25 isoform 1		C	,,	0,4406		0,0,2203	86.0	86.0	86.0		81,81,81	-9.2	0.0	9		86	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TPD52L3	NM_001001874.2,NM_001001875.3,NM_033516.5	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	27/137,27/133,27/141	6328676	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89882						protein binding	g.chr9:6328676C>T	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.81C>T	9.37:g.6328676C>T						TPD52L3_uc003zjv.2_Silent_p.P27P|TPD52L3_uc003zjx.1_Silent_p.P27P	p.P27P	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	302	+		Acute lymphoblastic leukemia(23;0.158)	27					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	c.81C>T	CCDS34986.1																																																																																				PASS	0.502	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		39	85	39	85	---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971600	34971600	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr9:34971600C>A	ENST00000242315.3	+	2	387	c.305C>A	c.(304-306)cCt>cAt	p.P102H	KIAA1045_ENST00000544237.1_Missense_Mutation_p.P102H|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	102							metal ion binding (GO:0046872)	p.P102H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCACACCCCCTGCGTTCATC	0.612																																						uc003zvq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(304-306)CCT>CAT		hypothetical protein LOC23349							119.0	131.0	127.0					9																	34971600		1971	4160	6131	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971600C>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.305C>A	9.37:g.34971600C>A	ENSP00000242315:p.Pro102His					KIAA1045_uc003zvr.2_Missense_Mutation_p.P102H	p.P102H	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	483	+			102					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.305C>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514466	0.85389	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.93	5.93	0.95920	.	0.059604	0.64402	D	0.000002	T	0.77356	0.4118	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74047	-0.3790	8	.	.	.	-9.5236	19.3291	0.94278	0.0:1.0:0.0:0.0	.	102	Q9UPV7	K1045_HUMAN	H	102	.	.	P	+	2	0	KIAA1045	34961600	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.342000	0.79310	2.814000	0.96858	0.655000	0.94253	CCT		PASS	0.612	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		65	103	65	103	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97522149	97522149	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr9:97522149G>T	ENST00000375315.2	+	1	84	c.84G>T	c.(82-84)ctG>ctT	p.L28L	C9orf3_ENST00000277198.2_Silent_p.L28L|C9orf3_ENST00000297979.5_Silent_p.L28L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	28					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L28L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACTATGTACTGGATTTGGATG	0.448																																						uc004ava.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(82-84)CTG>CTT		aminopeptidase O							80.0	77.0	78.0					9																	97522149		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522149G>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.84G>T	9.37:g.97522149G>T						C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Silent_p.L28L|C9orf3_uc004auy.2_Silent_p.L28L|C9orf3_uc004auz.1_Silent_p.L28L	p.L28L	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	219	+			28					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.84G>T	CCDS55328.1																																																																																				PASS	0.448	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		19	34	19	34	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17157565	17157565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:17157565G>A	ENST00000377833.4	-	7	690	c.625C>T	c.(625-627)Cag>Tag	p.Q209*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	209	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.Q209*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATGCACACTGGGGTCCGTAC	0.537																																						uc001ioo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(625-627)CAG>TAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						144.0	120.0	128.0					10																	17157565		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17157565G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.625C>T	10.37:g.17157565G>A	ENSP00000367064:p.Gln209*						p.Q209*	NM_001081	NP_001072	O60494	CUBN_HUMAN			7	677	-			209			EGF-like 2; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.625C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913336	0.92178	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.75	5.75	0.90469	.	0.000000	0.44285	D	0.000474	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.805	0.63225	0.0742:0.0:0.9258:0.0	.	.	.	.	X	209	.	ENSP00000367064:Q209X	Q	-	1	0	CUBN	17197571	1.000000	0.71417	0.999000	0.59377	0.050000	0.14768	6.251000	0.72441	2.721000	0.93114	0.655000	0.94253	CAG		PASS	0.537	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	73	21	73	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44052638	44052638	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:44052638C>A	ENST00000306006.6	-	2	1542	c.890G>T	c.(889-891)gGg>gTg	p.G297V	ZNF239_ENST00000374446.2_Missense_Mutation_p.G297V|ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000426961.1_Missense_Mutation_p.G297V|ZNF239_ENST00000535642.1_Missense_Mutation_p.G297V	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G297V(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAAGCCCTTCCCACACTTGTC	0.507																																						uc001jaw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)GGG>GTG		zinc finger protein 239							124.0	129.0	127.0					10																	44052638		2196	4298	6494	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44052638C>A	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.890G>T	10.37:g.44052638C>A	ENSP00000307774:p.Gly297Val					ZNF239_uc001jax.3_Missense_Mutation_p.G297V|ZNF239_uc009xmj.2_Missense_Mutation_p.G297V|ZNF239_uc009xmk.2_Missense_Mutation_p.G297V	p.G297V	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1543	-			297			C2H2-type 4.		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.890G>T	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310399	0.60414	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	3.81	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45115	0.1326	M	0.82433	2.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.47611	-0.9104	9	0.87932	D	0	-10.5302	9.4353	0.38635	0.0:0.8928:0.0:0.1072	.	297	Q16600	ZN239_HUMAN	V	297	ENSP00000307774:G297V;ENSP00000363569:G297V;ENSP00000398202:G297V;ENSP00000443907:G297V	ENSP00000307774:G297V	G	-	2	0	ZNF239	43372644	0.582000	0.26749	1.000000	0.80357	0.998000	0.95712	1.219000	0.32479	1.187000	0.43000	0.585000	0.79938	GGG		PASS	0.507	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			28	115	28	115	---	---	---	---
KIAA1279	26128	broad.mit.edu	37	10	70748591	70748591	+	Start_Codon_SNP	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:70748591G>T	ENST00000361983.4	+	1	105	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	1					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.M1I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGGCCGCTATGGCGAACGTTC	0.562											OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001joy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>ATT		KIF1 binding protein							39.0	46.0	43.0					10																	70748591		2202	4300	6502	SO:0001582	initiator_codon_variant	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70748591G>T	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.3G>T	10.37:g.70748591G>T	ENSP00000354848:p.Met1Ile		OREG0020215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124		p.M1I	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			1	99	+			1					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.3G>T	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014449	0.75161	.	.	ENSG00000198954	ENST00000361983	T	0.42900	0.96	5.73	5.73	0.89815	.	0.346172	0.33235	N	0.005126	T	0.39600	0.1084	.	.	.	0.80722	D	1	B	0.27351	0.176	B	0.16289	0.015	T	0.18555	-1.0333	9	0.56958	D	0.05	-1.933	19.9155	0.97058	0.0:0.0:1.0:0.0	.	1	Q96EK5	KBP_HUMAN	I	1	ENSP00000354848:M1I	ENSP00000354848:M1I	M	+	3	0	KIAA1279	70418597	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.971000	0.49248	2.699000	0.92147	0.650000	0.86243	ATG		PASS	0.562	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634	Missense_Mutation	13	41	13	41	---	---	---	---
OIT3	170392	broad.mit.edu	37	10	74690336	74690336	+	Missense_Mutation	SNP	G	G	A	rs149032084		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:74690336G>A	ENST00000334011.5	+	8	1626	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	470	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D470N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CACATCCCGGGATCACCTAGC	0.443																																					Colon(7;19 345 13446 17537)	uc001jte.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1408-1410)GAT>AAT		oncoprotein-induced transcript 3 precursor		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	225.0	221.0	222.0		1408	5.9	1.0	10	dbSNP_134	222	0,8600		0,0,4300	no	missense	OIT3	NM_152635.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	470/546	74690336	1,13005	2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74690336G>A		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1408G>A	10.37:g.74690336G>A	ENSP00000333900:p.Asp470Asn					OIT3_uc009xqs.1_RNA	p.D470N	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN			8	1626	+	Prostate(51;0.0198)		470			ZP.		A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1408G>A	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839316	0.91117	2.27E-4	0.0	ENSG00000138315	ENST00000334011	D	0.83335	-1.71	5.87	5.87	0.94306	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000017	D	0.87553	0.6206	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82434	-0.0459	10	0.16420	T	0.52	-25.1935	20.2079	0.98282	0.0:0.0:1.0:0.0	.	470	Q8WWZ8	OIT3_HUMAN	N	470	ENSP00000333900:D470N	ENSP00000333900:D470N	D	+	1	0	OIT3	74360342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.892000	0.87324	2.781000	0.95711	0.655000	0.94253	GAT		PASS	0.443	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		56	201	56	201	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000369680.4_Silent_p.C502C|U4_ENST00000607255.1_RNA					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						uc001kyp.1																			4	Substitution - coding silent(4)		lung(4)	ovary(3)|pancreas(1)	4						c.(1504-1506)TGC>TGT		X-prolyl aminopeptidase (aminopeptidase P) 1,							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A						XPNPEP1_uc009xxt.1_Silent_p.C521C|XPNPEP1_uc001kyq.1_Silent_p.C431C	p.C502C	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1646	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1506C>T	CCDS7560.2																																																																																				PASS	0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			4	128	4	128	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118389530	118389530	+	RNA	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:118389530G>T	ENST00000298771.7	+	0	679				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.V218V(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCGTGTTTGTGGATGTGATTC	0.537																																						uc001lcq.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(655-657)GTG>GTT		pancreatic lipase-related protein 2							97.0	100.0	99.0					10																	118389530		1998	4168	6166			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118389530G>T	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118389530G>T						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.V219V	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	9	680	+			218					A8K627|Q6IB55	Silent	SNP	ENST00000298771.7	37	c.657G>T																																																																																					PASS	0.537	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	22	5	22	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124708324	124708325	+	Missense_Mutation	DNP	CA	CA	AC	rs577323312		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:124708324_124708325CA>AC	ENST00000481909.1	-	4	712_713	c.488_489TG>GT	c.(487-489)gTG>gGT	p.V163G	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	163								p.V163G(2)|p.V163V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TCATGTGTACCACAACTTTACT	0.371																																						uc001lgw.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(487-489)GTG>GTT|c.(487-489)GTG>GGG		hypothetical protein LOC80007																																				SO:0001583	missense	80007							g.chr10:124708324C>A|g.chr10:124708325A>C	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.488_489delinsAC	10.37:g.124708324_124708325delinsAC	ENSP00000419126:p.Val163Gly					C10orf88_uc001lgx.2_Silent_p.V65V|C10orf88_uc001lgx.2_Missense_Mutation_p.V65G	p.V163V|p.V163G	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	714|713	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	163					Q0P6C6|Q8N597	Silent|Missense_Mutation	SNP	ENST00000481909.1	37	c.489G>T|c.488T>G	CCDS7632.1																																																																																				PASS	0.371	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		12|13	68	12	68	---	---	---	---
FAM196A	642938	broad.mit.edu	37	10	128973730	128973730	+	Silent	SNP	C	C	G	rs373397161		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr10:128973730C>G	ENST00000522781.1	-	4	1485	c.930G>C	c.(928-930)ccG>ccC	p.P310P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P310P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	310								p.P310P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCACTGCATCGGGGGTGAGC	0.672																																						uc001lju.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(928-930)CCG>CCC		hypothetical protein LOC642938							43.0	47.0	46.0					10																	128973730		2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973730C>G		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.930G>C	10.37:g.128973730C>G						DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.P310P|FAM196A_uc001ljv.1_Silent_p.P310P|FAM196A_uc009yap.1_Silent_p.P310P	p.P310P	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	971	-			310					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.930G>C	CCDS31312.1																																																																																				PASS	0.672	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		25	78	25	78	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1021225	1021225	+	Silent	SNP	G	G	A	rs374090660		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:1021225G>A	ENST00000421673.2	-	27	3629	c.3579C>T	c.(3577-3579)tgC>tgT	p.C1193C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1193					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.C1193C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCAGGGCACGCACACCCCCT	0.632													g|||	1	0.000199681	0.0	0.0014	5008	,	,		16401	0.0		0.0	False		,,,				2504	0.0					uc001lsw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3577-3579)TGC>TGT		mucin 6, gastric				1,4231		0,1,2115	60.0	66.0	64.0		3579	-1.4	0.0	11		64	1,8407		0,1,4203	no	coding-synonymous	MUC6	NM_005961.2		0,2,6318	AA,AG,GG		0.0119,0.0236,0.0158		1193/2440	1021225	2,12638	2116	4204	6320	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1021225G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3579C>T	11.37:g.1021225G>A							p.C1193C	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	27	3630	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1193					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.3579C>T	CCDS44513.1																																																																																				PASS	0.632	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		8	19	8	19	---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249654	3249654	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:3249654G>A	ENST00000389832.5	-	2	682	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.L125F			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L125F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGGGAAGAGGGCGGCCAGG	0.687																																						uc001lxq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(373-375)CTC>TTC		MAS-related GPR, member E							17.0	24.0	22.0					11																	3249654		2177	4277	6454	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249654G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.376C>T	11.37:g.3249654G>A	ENSP00000374482:p.Leu126Phe						p.L125F	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	683	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	125			Helical; Name=3; (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	g	7.058	0.565717	0.13560	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.46	0.421	0.16451	GPCR, rhodopsin-like superfamily (1);	0.377447	0.19048	N	0.124117	T	0.64057	0.2564	M	0.86343	2.81	0.09310	N	1	P	0.46457	0.878	P	0.60345	0.873	T	0.55224	-0.8174	9	0.54805	T	0.06	-3.985	6.9979	0.24793	0.3366:0.0:0.6634:0.0	.	125	Q86SM8	MRGRE_HUMAN	F	126;125	.	ENSP00000374482:L125F	L	-	1	0	MRGPRE	3206230	0.000000	0.05858	0.010000	0.14722	0.428000	0.31595	-0.303000	0.08210	-0.109000	0.12044	0.484000	0.47621	CTC		PASS	0.687	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		8	17	8	17	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221315	5221315	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:5221315A>T	ENST00000321255.1	-	1	615	c.616T>A	c.(616-618)Tac>Aac	p.Y206N		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	206					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y206N(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCATAGTAACTATTGAAT	0.423																																						uc010qyz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(616-618)TAC>AAC		olfactory receptor, family 51, subfamily V,							60.0	57.0	58.0					11																	5221315		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221315A>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.616T>A	11.37:g.5221315A>T	ENSP00000321729:p.Tyr206Asn						p.Y206N	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	616	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	206			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.616T>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	9.329	1.060095	0.19987	.	.	ENSG00000176742	ENST00000321255	T	0.37752	1.18	5.17	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	1.124900	0.06848	N	0.796867	T	0.32704	0.0838	N	0.21194	0.64	0.09310	N	1	P	0.38335	0.627	P	0.46940	0.532	T	0.36529	-0.9744	10	0.87932	D	0	.	5.0038	0.14277	0.5089:0.0:0.0782:0.4129	.	206	Q9H2C8	O51V1_HUMAN	N	206	ENSP00000321729:Y206N	ENSP00000321729:Y206N	Y	-	1	0	OR51V1	5177891	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.239000	0.02916	0.034000	0.15491	0.533000	0.62120	TAC		PASS	0.423	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		18	75	18	75	---	---	---	---
OR52E8	390079	broad.mit.edu	37	11	5878717	5878717	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:5878717C>A	ENST00000537935.1	-	1	247	c.216G>T	c.(214-216)ttG>ttT	p.L72F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L72F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATGGAATCCAACATGGCCA	0.468																																						uc010qzr.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(214-216)TTG>TTT		olfactory receptor, family 52, subfamily E,							128.0	146.0	140.0					11																	5878717		2152	4296	6448	SO:0001583	missense	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878717C>A	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.216G>T	11.37:g.5878717C>A	ENSP00000444054:p.Leu72Phe					TRIM5_uc001mbq.1_Intron	p.L72F	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	216	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	72			Helical; Name=2; (Potential).		B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	c.216G>T	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531611	0.27387	.	.	ENSG00000183269	ENST00000537935	T	0.00512	6.89	4.24	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.156959	0.29218	N	0.012783	T	0.01558	0.0050	M	0.88310	2.945	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.40403	-0.9565	10	0.87932	D	0	.	3.7509	0.08566	0.0:0.5224:0.1906:0.287	.	72	Q6IFG1	O52E8_HUMAN	F	72	ENSP00000444054:L72F	ENSP00000444054:L72F	L	-	3	2	OR52E8	5835293	0.064000	0.20934	0.037000	0.18230	0.288000	0.27193	0.573000	0.23699	0.503000	0.28060	0.549000	0.68633	TTG		PASS	0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		39	152	39	152	---	---	---	---
ILK	3611	broad.mit.edu	37	11	6631392	6631393	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:6631392_6631393GC>TA	ENST00000396751.2	+	11	1548_1549	c.1092_1093GC>TA	c.(1090-1095)aaGCct>aaTAct	p.364_365KP>NT	ILK_ENST00000420936.2_Missense_Mutation_p.364_365KP>NT|ILK_ENST00000537806.1_Missense_Mutation_p.230_231KP>NT|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000299421.4_Missense_Mutation_p.364_365KP>NT|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000528995.1_Missense_Mutation_p.303_304KP>NT	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.K364_P365>NT(1)|p.K364N(1)|p.P365T(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGCAGAAGAAGCCTGAAGACAC	0.53																																						uc001mee.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	central_nervous_system(1)	1						c.(1090-1092)AAG>AAT|c.(1093-1095)CCT>ACT		integrin-linked kinase																																				SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6631392G>T|g.chr11:6631393C>A	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	Exception_encountered	11.37:g.6631392_6631393delinsTA	ENSP00000379975:p.K364_P365delinsNT					ILK_uc001mef.2_Missense_Mutation_p.K364N|ILK_uc010rap.1_Missense_Mutation_p.K230N|ILK_uc010raq.1_Missense_Mutation_p.K303N|ILK_uc001meg.2_Missense_Mutation_p.K210N|ILK_uc001meh.2_Missense_Mutation_p.K364N|ILK_uc001mei.2_5'UTR|ILK_uc001mef.2_Missense_Mutation_p.P365T|ILK_uc010rap.1_Missense_Mutation_p.P231T|ILK_uc010raq.1_Missense_Mutation_p.P304T|ILK_uc001meg.2_Missense_Mutation_p.P211T|ILK_uc001meh.2_Missense_Mutation_p.P365T|ILK_uc001mei.2_5'UTR	p.K364N|p.P365T	NM_001014794	NP_001014794	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	12	1227|1228	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	364|365			Protein kinase.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.1092G>T|c.1093C>A	CCDS7768.1																																																																																				PASS	0.530	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		36|37	77|76	36	76	---	---	---	---
OR10A3	26496	broad.mit.edu	37	11	7960135	7960135	+	Silent	SNP	T	T	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:7960135T>C	ENST00000360759.3	-	1	1006	c.933A>G	c.(931-933)ttA>ttG	p.L311L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	311					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L311L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAATGTGTGTAAAATCACTT	0.383																																						uc010rbi.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(931-933)TTA>TTG		olfactory receptor, family 10, subfamily A,							100.0	94.0	96.0					11																	7960135		2201	4296	6497	SO:0001819	synonymous_variant	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960135T>C	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.933A>G	11.37:g.7960135T>C							p.L311L	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	933	-			311			Cytoplasmic (Potential).		B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	c.933A>G	CCDS31421.1																																																																																				PASS	0.383	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		8	47	8	47	---	---	---	---
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						uc001mlf.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	breast(1)	1						c.(214-216)CAA>CTA		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.Q78L	p.Q72L	NM_012250	NP_036382	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-			72		Q -> L (in an ovarian cancer sample; somatic mutation).	GTP (By similarity).		B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.215A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		PASS	0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		406	131	406	131	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137376	40137376	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:40137376C>T	ENST00000278198.2	-	2	2430	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	156					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R156Q(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGTTGTTTCGCAACCAGAG	0.428																																						uc001mxa.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(466-468)CGA>CAA		netrin-G1 ligand precursor							81.0	82.0	82.0					11																	40137376		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137376C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.467G>A	11.37:g.40137376C>T	ENSP00000278198:p.Arg156Gln					LRRC4C_uc001mxc.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R152Q	p.R156Q	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2431	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	156			LRR 4.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.467G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960351	0.74016	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	N	0.21194	0.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.91733	0.5398	10	0.42905	T	0.14	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	156	Q9HCJ2	LRC4C_HUMAN	Q	156	ENSP00000278198:R156Q;ENSP00000436976:R156Q;ENSP00000437132:R156Q;ENSP00000434761:R156Q	ENSP00000278198:R156Q	R	-	2	0	LRRC4C	40093952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.754000	0.94517	0.650000	0.86243	CGA		PASS	0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		32	41	32	41	---	---	---	---
OR4C46	119749	broad.mit.edu	37	11	51515501	51515501	+	Missense_Mutation	SNP	G	G	T	rs554155145		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:51515501G>T	ENST00000328188.1	+	1	220	c.220G>T	c.(220-222)Gtc>Ttc	p.V74F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V74F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTATTCCTCTGTCAATACCCC	0.483													.|||	1	0.000199681	0.0	0.0014	5008	,	,		18285	0.0		0.0	False		,,,				2504	0.0					uc010ric.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)GTC>TTC		olfactory receptor, family 4, subfamily C,							220.0	204.0	209.0					11																	51515501		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515501G>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.220G>T	11.37:g.51515501G>T	ENSP00000329056:p.Val74Phe						p.V74F	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	220	+			74			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.220G>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.579	0.475192	0.12521	.	.	ENSG00000185926	ENST00000328188	T	0.00558	6.61	2.63	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	N	0.001368	T	0.01124	0.0037	M	0.75447	2.3	0.09310	N	1	B	0.30406	0.278	P	0.47891	0.56	T	0.35649	-0.9780	10	0.87932	D	0	.	3.2034	0.06657	0.1491:0.0:0.5865:0.2644	.	74	A6NHA9	O4C46_HUMAN	F	74	ENSP00000329056:V74F	ENSP00000329056:V74F	V	+	1	0	OR4C46	51372077	0.000000	0.05858	0.032000	0.17829	0.014000	0.08584	0.271000	0.18626	0.421000	0.25980	0.134000	0.15878	GTC		PASS	0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		39	214	39	214	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55419064	55419064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:55419064G>T	ENST00000312422.2	+	1	685	c.685G>T	c.(685-687)Gaa>Taa	p.E229*		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E229*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCAGTCAGCAGAAGGCAGGCG	0.502																																						uc001nhs.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(685-687)GAA>TAA		olfactory receptor, family 4, subfamily S,							167.0	135.0	146.0					11																	55419064		2177	4032	6209	SO:0001587	stop_gained	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419064G>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.685G>T	11.37:g.55419064G>T	ENSP00000310337:p.Glu229*						p.E229*	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	685	+		all_epithelial(135;0.0748)	229			Cytoplasmic (Potential).		Q6IF72	Nonsense_Mutation	SNP	ENST00000312422.2	37	c.685G>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766740	0.69878	.	.	ENSG00000174982	ENST00000312422	.	.	.	5.35	4.43	0.53597	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.7181	0.34423	0.0847:0.155:0.7604:0.0	.	.	.	.	X	229	.	ENSP00000310337:E229X	E	+	1	0	OR4S2	55175640	0.050000	0.20438	0.979000	0.43373	0.994000	0.84299	0.847000	0.27696	2.508000	0.84585	0.542000	0.68232	GAA		PASS	0.502	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		44	34	44	34	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904844	55904844	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:55904844C>A	ENST00000301529.1	-	1	350	c.351G>T	c.(349-351)gtG>gtT	p.V117V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAGGCCATCACAGCCAGCA	0.488																																						uc010riz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(349-351)GTG>GTT		olfactory receptor, family 8, subfamily J,							150.0	137.0	141.0					11																	55904844		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904844C>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.351G>T	11.37:g.55904844C>A							p.V117V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	351	-	Esophageal squamous(21;0.00693)		117			Helical; Name=3; (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.351G>T	CCDS31520.1																																																																																				PASS	0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		72	118	72	118	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230220	56230220	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:56230220C>A	ENST00000279791.1	-	1	657	c.658G>T	c.(658-660)Gta>Tta	p.V220L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V220L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACAGCTACTACAATGAGAGTG	0.498																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(658-660)GTA>TTA		olfactory receptor, family 5, subfamily M,							64.0	62.0	63.0					11																	56230220		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230220C>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.658G>T	11.37:g.56230220C>A	ENSP00000279791:p.Val220Leu						p.V220L	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	658	-	Esophageal squamous(21;0.00448)		220			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.658G>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.151327	0.00325	.	.	ENSG00000150269	ENST00000279791	T	0.00029	8.91	4.39	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.165025	0.28549	N	0.014947	T	0.00039	0.0001	N	0.00855	-1.145	0.09310	N	0.999999	B	0.02656	0.0	B	0.11329	0.006	T	0.38650	-0.9651	10	0.02654	T	1	-5.6307	6.3794	0.21525	0.1858:0.7095:0.0:0.1047	.	220	Q8NGP3	OR5M9_HUMAN	L	220	ENSP00000279791:V220L	ENSP00000279791:V220L	V	-	1	0	OR5M9	55986796	0.000000	0.05858	0.750000	0.31169	0.044000	0.14063	-1.030000	0.03581	2.160000	0.67779	0.542000	0.68232	GTA		PASS	0.498	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		9	19	9	19	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409790	56409790	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:56409790C>A	ENST00000302981.1	-	1	125	c.126G>T	c.(124-126)atG>atT	p.M42I	OR5AP2_ENST00000544374.1_Missense_Mutation_p.M43I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M42I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCATGTTTGCCATATAGATCA	0.403																																						uc001njb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(124-126)ATG>ATT		olfactory receptor, family 5, subfamily AP,							103.0	95.0	97.0					11																	56409790		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409790C>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.126G>T	11.37:g.56409790C>A	ENSP00000303111:p.Met42Ile						p.M42I	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN			1	126	-			42			Helical; Name=1; (Potential).		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.126G>T	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	2.504	-0.314505	0.05422	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.01379	4.96;4.96	5.19	3.29	0.37713	.	0.861965	0.10131	N	0.712116	T	0.00845	0.0028	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47071	-0.9145	10	0.44086	T	0.13	.	8.44	0.32810	0.0:0.6991:0.0:0.3009	.	42	Q8NGF4	O5AP2_HUMAN	I	43;42	ENSP00000442701:M43I;ENSP00000303111:M42I	ENSP00000303111:M42I	M	-	3	0	OR5AP2	56166366	0.000000	0.05858	0.003000	0.11579	0.105000	0.19272	-0.680000	0.05197	1.415000	0.47037	0.637000	0.83480	ATG		PASS	0.403	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		27	85	27	85	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510447	56510447	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:56510447A>G	ENST00000302957.3	-	1	840	c.841T>C	c.(841-843)Tac>Cac	p.Y281H		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y281H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTAGGGAGTAGGTGGAACTA	0.458																																						uc010rjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(841-843)TAC>CAC		olfactory receptor, family 9, subfamily G,							187.0	150.0	162.0					11																	56510447		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510447A>G	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.841T>C	11.37:g.56510447A>G	ENSP00000307515:p.Tyr281His						p.Y281H	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	841	-			281			Extracellular (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.841T>C	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612688	0.46631	.	.	ENSG00000172457	ENST00000302957	T	0.00058	8.79	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	N	0.002880	T	0.00241	0.0007	L	0.38692	1.165	0.31910	N	0.614747	D	0.89917	1.0	D	0.91635	0.999	T	0.65026	-0.6268	10	0.07325	T	0.83	-29.1809	8.4645	0.32947	0.9133:0.0:0.0867:0.0	.	281	Q8NGQ1	OR9G4_HUMAN	H	281	ENSP00000307515:Y281H	ENSP00000307515:Y281H	Y	-	1	0	OR9G4	56267023	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.830000	0.27462	2.131000	0.65755	0.523000	0.50628	TAC		PASS	0.458	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		38	108	38	108	---	---	---	---
MPEG1	219972	broad.mit.edu	37	11	58978773	58978773	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:58978773G>T	ENST00000361050.3	-	1	1651	c.1566C>A	c.(1564-1566)agC>agA	p.S522R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	522						integral component of membrane (GO:0016021)		p.S522R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCGCAAACCTGCTTCCCAACT	0.507																																						uc001nnu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1564-1566)AGC>AGA		macrophage expressed gene 1 precursor							45.0	47.0	47.0					11																	58978773		1848	4085	5933	SO:0001583	missense	219972					integral to membrane		g.chr11:58978773G>T	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1566C>A	11.37:g.58978773G>T	ENSP00000354335:p.Ser522Arg						p.S522R	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			1	1722	-		all_epithelial(135;0.125)	522			Extracellular (Potential).		Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1566C>A	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	G	6.355	0.433684	0.12045	.	.	ENSG00000197629	ENST00000361050	T	0.22539	1.95	5.93	1.85	0.25348	.	0.735816	0.13164	N	0.408840	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	B	0.28128	0.201	B	0.16289	0.015	T	0.30679	-0.9970	10	0.25106	T	0.35	-1.1162	1.7406	0.02952	0.2249:0.1506:0.4713:0.1532	.	522	Q2M385	MPEG1_HUMAN	R	522	ENSP00000354335:S522R	ENSP00000354335:S522R	S	-	3	2	MPEG1	58735349	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	0.559000	0.23485	0.071000	0.16664	0.655000	0.94253	AGC		PASS	0.507	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		39	52	39	52	---	---	---	---
TMEM151A	256472	broad.mit.edu	37	11	66061904	66061904	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:66061904C>T	ENST00000327259.4	+	2	331	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	63						integral component of membrane (GO:0016021)		p.R63C(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						GGCCTGGTGTCGCCTGGCCAC	0.741																																						uc001ohl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(187-189)CGC>TGC		transmembrane protein 151A							20.0	22.0	21.0					11																	66061904		2195	4286	6481	SO:0001583	missense	256472					integral to membrane		g.chr11:66061904C>T	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.187C>T	11.37:g.66061904C>T	ENSP00000326244:p.Arg63Cys						p.R63C	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	299	+			63			Helical; (Potential).		Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.187C>T	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403184	0.62288	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.69	3.69	0.42338	.	0.292228	0.30356	N	0.009818	T	0.29491	0.0735	N	0.24115	0.695	0.47123	D	0.999326	D	0.60160	0.987	B	0.36959	0.237	T	0.29150	-1.0021	9	0.72032	D	0.01	.	11.9016	0.52687	0.0:0.8992:0.0:0.1008	.	63	Q8N4L1	T151A_HUMAN	C	63	.	ENSP00000326244:R63C	R	+	1	0	TMEM151A	65818480	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.260000	0.43267	2.438000	0.82558	0.561000	0.74099	CGC		PASS	0.741	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		4	71	4	71	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68201211	68201211	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:68201211A>T	ENST00000294304.7	+	18	4011	c.3905A>T	c.(3904-3906)cAg>cTg	p.Q1302L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1302	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.Q1302L(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCGCCGCCCAGTTCCCCTGC	0.701																																						uc001ont.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3904-3906)CAG>CTG		low density lipoprotein receptor-related protein							65.0	69.0	67.0					11																	68201211		2199	4292	6491	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201211A>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3905A>T	11.37:g.68201211A>T	ENSP00000294304:p.Gln1302Leu					LRP5_uc009ysg.2_Missense_Mutation_p.Q712L	p.Q1302L	NM_002335	NP_002326	O75197	LRP5_HUMAN			18	3980	+			1302			LDL-receptor class A 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3905A>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	32	5.130086	0.94473	.	.	ENSG00000162337	ENST00000294304	D	0.95918	-3.85	4.39	4.39	0.52855	.	0.000000	0.46758	U	0.000280	D	0.97018	0.9026	M	0.82630	2.6	0.80722	D	1	P;P	0.49862	0.929;0.929	P;P	0.56916	0.809;0.809	D	0.97649	1.0153	10	0.87932	D	0	.	13.849	0.63485	1.0:0.0:0.0:0.0	.	1302;1302	Q9UES7;O75197	.;LRP5_HUMAN	L	1302	ENSP00000294304:Q1302L	ENSP00000294304:Q1302L	Q	+	2	0	LRP5	67957787	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.279000	0.78599	1.864000	0.54056	0.374000	0.22700	CAG		PASS	0.701	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		268	120	268	120	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70189989	70189989	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:70189989A>T	ENST00000253925.7	+	15	2137	c.1922A>T	c.(1921-1923)aAa>aTa	p.K641I	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.K641I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	641					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.K641I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCCATCAACAAAGAGATCAGG	0.537																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1921-1923)AAA>ATA		PTPRF interacting protein alpha 1 isoform b							62.0	44.0	50.0					11																	70189989		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70189989A>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1922A>T	11.37:g.70189989A>T	ENSP00000253925:p.Lys641Ile					PPFIA1_uc001opn.1_Missense_Mutation_p.K641I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.K641I	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		15	2120	+			641			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.1922A>T	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.2|22.2	4.253609|4.253609	0.80135|0.80135	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000528750	T;T|.	0.54071|.	0.59;0.59|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.059691|0.059691	0.64402|0.64402	D|D	0.000004|0.000004	T|.	0.71247|.	0.3317|.	M|M	0.61703|0.61703	1.905|1.905	0.45580|0.45580	D|D	0.998525|0.998525	P;P|.	0.43024|.	0.709;0.798|.	B;P|.	0.45449|.	0.342;0.481|.	T|.	0.70597|.	-0.4828|.	10|.	0.87932|.	D|.	0|.	.|.	15.4389|15.4389	0.75168|0.75168	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	641;641|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	I|X	641;641;128|45	ENSP00000253925:K641I;ENSP00000374198:K641I|.	ENSP00000253925:K641I|.	K|K	+|+	2|1	0|0	PPFIA1|PPFIA1	69867637|69867637	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.975000|0.975000	0.68041|0.68041	9.065000|9.065000	0.93941|0.93941	2.055000|2.055000	0.61198|0.61198	0.459000|0.459000	0.35465|0.35465	AAA|AAG		PASS	0.537	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		8	27	8	27	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104879648	104879648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:104879648G>A	ENST00000260315.3	-	2	66	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Nonsense_Mutation_p.Q36*|CASP5_ENST00000526056.1_Nonsense_Mutation_p.Q36*			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	23					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.Q36*(1)|p.Q7*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AATCCACTCTGAAGGATACCT	0.398																																						uc010rva.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|lung(1)	3						c.(67-69)CAG>TAG		caspase 5 isoform a precursor							147.0	137.0	140.0					11																	104879648		2201	4299	6500	SO:0001587	stop_gained	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879648G>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.67C>T	11.37:g.104879648G>A	ENSP00000260315:p.Gln23*					CASP5_uc010ruz.1_Nonsense_Mutation_p.Q36*|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.Q23*	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	99	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	23					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Nonsense_Mutation	SNP	ENST00000260315.3	37	c.67C>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	9.782	1.175507	0.21704	.	.	ENSG00000137757	ENST00000393141;ENST00000260315;ENST00000526056;ENST00000456094	.	.	.	1.26	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	0.1261	0.00069	0.2311:0.2063:0.2651:0.2975	.	.	.	.	X	36;23;36;7	.	ENSP00000260315:Q23X	Q	-	1	0	CASP5	104384858	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.807000	0.01734	-1.082000	0.03101	-1.069000	0.02264	CAG		PASS	0.398	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		35	46	35	46	---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120345304	120345304	+	Silent	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr11:120345304A>G	ENST00000397843.2	+	32	3235	c.3069A>G	c.(3067-3069)gaA>gaG	p.E1023E	ARHGEF12_ENST00000356641.3_Silent_p.E1004E|ARHGEF12_ENST00000532993.1_Silent_p.E920E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1023	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1023E(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGATTCATGAAGGGCCATTGG	0.343			T	MLL	AML																																	uc001pxl.1				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3067-3069)GAA>GAG		Rho guanine nucleotide exchange factor (GEF) 12							184.0	175.0	178.0					11																	120345304		1818	4072	5890	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120345304A>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3069A>G	11.37:g.120345304A>G						ARHGEF12_uc009zat.2_Silent_p.E1004E|ARHGEF12_uc010rzn.1_Silent_p.E920E|ARHGEF12_uc009zau.1_Silent_p.E920E	p.E1023E	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	32	3076	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1023			PH.		O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.3069A>G	CCDS41727.1																																																																																				PASS	0.343	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		37	51	37	51	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6132840	6132840	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:6132840G>T	ENST00000261405.5	-	25	3590	c.3336C>A	c.(3334-3336)gcC>gcA	p.A1112A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1112					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.A1112A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCCATGCTGGGCACACACGT	0.567																																						uc001qnn.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(3334-3336)GCC>GCA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						48.0	46.0	47.0					12																	6132840		2200	4298	6498	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6132840G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3336C>A	12.37:g.6132840G>T						VWF_uc010set.1_Intron	p.A1112A	NM_000552	NP_000543	P04275	VWF_HUMAN			25	3586	-			1112					Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.3336C>A	CCDS8539.1																																																																																				PASS	0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		25	77	25	77	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9349036	9349036	+	Splice_Site	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:9349036C>T	ENST00000261336.2	-	10	1011		c.e10-1		PZP_ENST00000381997.2_Splice_Site	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACTTCCAGGTCTGAAAAATAT	0.318																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Unknown(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.e10-1		pregnancy-zone protein precursor							77.0	73.0	74.0					12																	9349036		2203	4300	6503	SO:0001630	splice_region_variant	5858							g.chr12:9349036C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.983-1G>A	12.37:g.9349036C>T						PZP_uc009zgl.2_Splice_Site_p.D197_splice	p.D328_splice	NM_002864	NP_002855					10	1012	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Splice_Site	SNP	ENST00000261336.2	37	c.983_splice	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561640	0.13498	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	2.89	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.44976	D	0.997996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.939	0.41570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PZP	9240303	0.952000	0.32445	0.045000	0.18777	0.022000	0.10575	3.860000	0.55995	1.599000	0.50093	0.306000	0.20318	.		PASS	0.318	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Intron	16	38	16	38	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21207473	21207473	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:21207473G>T	ENST00000421593.2	+	10	1444	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	RP11-125O5.2_ENST00000590779.1_5'Flank|LST3_ENST00000381541.3_Missense_Mutation_p.A529S|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A529S|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	482						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A482S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAGAGATGATGCTTGTACAAG	0.378																																						uc010sin.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1444-1446)GCT>TCT		liver-specific organic anion transporter 3TM12							107.0	115.0	113.0					12																	21207473		2194	4299	6493	SO:0001583	missense	338821					membrane	transporter activity	g.chr12:21207473G>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1444G>T	12.37:g.21207473G>T	ENSP00000394168:p.Ala482Ser					SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.A529S	p.A482S	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			10	1444	+			482					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1444G>T	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	0.036	-1.304967	0.01353	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.35421	1.35;1.35;1.31	2.41	-4.83	0.03161	.	0.631198	0.15572	U	0.255413	T	0.12390	0.0301	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.004;0.007	T	0.20107	-1.0285	10	0.14252	T	0.57	.	1.2934	0.02065	0.3753:0.2493:0.2495:0.1259	.	482;529	G3V0H7;F5H094	.;.	S	529;529;482	ENSP00000370952:A529S;ENSP00000452013:A529S;ENSP00000394168:A482S	ENSP00000370952:A529S	A	+	1	0	SLCO1B7;RP11-545J16.1	21098740	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.146000	0.01294	-2.526000	0.00494	-0.346000	0.07831	GCT		PASS	0.378	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		27	49	27	49	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579085	33579085	+	Missense_Mutation	SNP	G	G	T	rs201008299	byFrequency	TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:33579085G>T	ENST00000228567.3	-	2	793	c.497C>A	c.(496-498)aCg>aAg	p.T166K	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	166					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.T166K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTTGATGACGTAGGCTCAGT	0.408																																						uc001rll.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(496-498)ACG>AAG		synaptotagmin X							166.0	175.0	172.0					12																	33579085		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579085G>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.497C>A	12.37:g.33579085G>T	ENSP00000228567:p.Thr166Lys					SYT10_uc009zju.1_5'UTR	p.T166K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			2	794	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		166			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.497C>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243506	0.39697	.	.	ENSG00000110975	ENST00000228567	T	0.48836	0.8	3.78	3.78	0.43462	.	0.000000	0.42548	U	0.000684	T	0.48804	0.1520	M	0.66939	2.045	0.80722	D	1	B	0.31174	0.311	B	0.32211	0.142	T	0.58864	-0.7561	10	0.66056	D	0.02	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	166	Q6XYQ8	SYT10_HUMAN	K	166	ENSP00000228567:T166K	ENSP00000228567:T166K	T	-	2	0	SYT10	33470352	1.000000	0.71417	0.989000	0.46669	0.261000	0.26267	8.590000	0.90821	2.390000	0.81377	0.655000	0.94253	ACG		PASS	0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		72	164	72	164	---	---	---	---
SP1	6667	broad.mit.edu	37	12	53776695	53776695	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:53776695A>T	ENST00000327443.4	+	3	1062	c.964A>T	c.(964-966)Acc>Tcc	p.T322S	SP1_ENST00000426431.2_Missense_Mutation_p.T315S	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	322	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T322S(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTCCTTTTTCACCAATGCCAA	0.502																																						uc001scw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(964-966)ACC>TCC		Sp1 transcription factor isoform a							164.0	150.0	154.0					12																	53776695		2203	4300	6503	SO:0001583	missense	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53776695A>T	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.964A>T	12.37:g.53776695A>T	ENSP00000329357:p.Thr322Ser					SP1_uc010sog.1_Missense_Mutation_p.T315S	p.T322S	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1061	+			322			Transactivation domain B (Gln-rich).|Ser/Thr-rich.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.964A>T	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846177	0.32606	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09630	2.97;2.96	4.26	4.26	0.50523	.	0.000000	0.56097	D	0.000022	T	0.10465	0.0256	L	0.43152	1.355	0.36362	D	0.860761	B	0.17667	0.023	B	0.18263	0.021	T	0.13710	-1.0499	10	0.23891	T	0.37	.	12.7858	0.57504	1.0:0.0:0.0:0.0	.	322	P08047	SP1_HUMAN	S	322;315	ENSP00000329357:T322S;ENSP00000404263:T315S	ENSP00000329357:T322S	T	+	1	0	SP1	52062962	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.369000	0.66138	1.938000	0.56188	0.383000	0.25322	ACC		PASS	0.502	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			21	131	21	131	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54903516	54903516	+	Silent	SNP	G	G	T	rs369137316		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:54903516G>T	ENST00000293373.6	+	6	649	c.570G>T	c.(568-570)ctG>ctT	p.L190L	NCKAP1L_ENST00000545638.2_Silent_p.L140L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	190					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.L190L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAAGAAGCTGACAGAAGAGT	0.498																																						uc001sgc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(568-570)CTG>CTT		NCK-associated protein 1-like							151.0	152.0	152.0					12																	54903516		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903516G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.570G>T	12.37:g.54903516G>T						NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L140L	p.L190L	NM_005337	NP_005328	P55160	NCKPL_HUMAN			6	649	+			190					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.570G>T	CCDS31813.1																																																																																				PASS	0.498	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		36	231	36	231	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57567680	57567680	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:57567680A>T	ENST00000243077.3	+	22	3930	c.3464A>T	c.(3463-3465)aAc>aTc	p.N1155I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1155	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.N1155I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCCAACAACACCTCAGTC	0.627																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(3463-3465)AAC>ATC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						158.0	112.0	128.0					12																	57567680		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57567680A>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3464A>T	12.37:g.57567680A>T	ENSP00000243077:p.Asn1155Ile						p.N1155I	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	3930	+			1155			LDL-receptor class A 10.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3464A>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	32	5.190637	0.94923	.	.	ENSG00000123384	ENST00000243077	D	0.95554	-3.74	5.03	5.03	0.67393	.	0.218824	0.35838	N	0.002952	D	0.95541	0.8551	L	0.41492	1.28	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	D	0.95277	0.8382	10	0.46703	T	0.11	.	13.8763	0.63655	1.0:0.0:0.0:0.0	.	1155	Q07954	LRP1_HUMAN	I	1155	ENSP00000243077:N1155I	ENSP00000243077:N1155I	N	+	2	0	LRP1	55853947	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.946000	0.56644	2.116000	0.64780	0.402000	0.26972	AAC		PASS	0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		8	71	8	71	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58017834	58017834	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:58017834C>A	ENST00000320442.4	+	9	1491	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K	SLC26A10_ENST00000379218.2_Missense_Mutation_p.Q394K	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	394						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.Q394K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGTGTTCTGCCAGATGCAGGA	0.542																																						uc001spe.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(1180-1182)CAG>AAG		solute carrier family 26, member 10							170.0	153.0	159.0					12																	58017834		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58017834C>A		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1180C>A	12.37:g.58017834C>A	ENSP00000320217:p.Gln394Lys					SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA	p.Q394K	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			9	1491	+	Melanoma(17;0.122)		394					A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.1180C>A	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	26.7	4.758941	0.89843	.	.	ENSG00000240771;ENSG00000135502;ENSG00000135502	ENST00000300189;ENST00000320442;ENST00000379218	D;D	0.92048	-2.96;-2.96	4.3	4.3	0.51218	Sulphate transporter (1);	.	.	.	.	D	0.92116	0.7501	L	0.45744	1.44	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	D	0.88156	0.2854	9	0.06236	T	0.91	.	15.0858	0.72151	0.0:1.0:0.0:0.0	.	394	Q8NG04	S2610_HUMAN	K	266;394;394	ENSP00000320217:Q394K;ENSP00000368520:Q394K	ENSP00000300189:Q266K	Q	+	1	0	ARHGEF25;SLC26A10	56304101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.367000	0.73099	2.664000	0.90586	0.655000	0.94253	CAG		PASS	0.542	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			29	151	29	151	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70048997	70048997	+	Missense_Mutation	SNP	G	G	T	rs370511761		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:70048997G>T	ENST00000330891.5	-	10	1923	c.1697C>A	c.(1696-1698)aCa>aAa	p.T566K	BEST3_ENST00000553096.1_Missense_Mutation_p.T460K|BEST3_ENST00000488961.1_Missense_Mutation_p.T353K|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	566					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.T566K(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTGAAACTGTCTGGGGACT	0.557																																						uc001svg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1696-1698)ACA>AAA		vitelliform macular dystrophy 2-like 3 isoform							42.0	43.0	43.0					12																	70048997		1850	4092	5942	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048997G>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1697C>A	12.37:g.70048997G>T	ENSP00000332413:p.Thr566Lys					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.T353K|BEST3_uc010stm.1_Missense_Mutation_p.T460K	p.T566K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1924	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		566			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1697C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685090	0.29872	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97941	-4.29;-4.62;-4.59	5.53	1.06	0.20224	.	1.250980	0.05240	N	0.511990	D	0.93112	0.7807	L	0.29908	0.895	0.09310	N	1	B;B	0.28128	0.201;0.146	B;B	0.24701	0.055;0.038	D	0.86281	0.1667	10	0.11485	T	0.65	-0.1978	3.4075	0.07347	0.233:0.119:0.5265:0.1215	.	566;353	Q8N1M1;B5MDI8	BEST3_HUMAN;.	K	353;566;460	ENSP00000433213:T353K;ENSP00000332413:T566K;ENSP00000449548:T460K	ENSP00000332413:T566K	T	-	2	0	BEST3	68335264	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.710000	0.25748	0.291000	0.22468	-0.222000	0.12452	ACA		PASS	0.557	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		30	51	30	51	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100433449	100433449	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:100433449C>A	ENST00000279907.7	-	20	4412	c.4200G>T	c.(4198-4200)caG>caT	p.Q1400H	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.Q1050H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1400								p.Q1400H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTGGGCTTGTCTGAGTGGCTT	0.453																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4198-4200)CAG>CAT		UHRF1 (ICBP90) binding protein 1-like isoform a							123.0	102.0	109.0					12																	100433449		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100433449C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4200G>T	12.37:g.100433449C>A	ENSP00000279907:p.Gln1400His					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.Q1050H	p.Q1400H	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			20	4429	-			1400					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.4200G>T	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.44|17.44	3.390667|3.390667	0.62066|0.62066	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000279907;ENST00000545232|ENST00000548712	T;T|.	0.13307|.	2.63;2.6|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.594424|.	0.17745|.	N|.	0.163440|.	T|T	0.54029|0.54029	0.1833|0.1833	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.79784|.	0.993|.	T|T	0.50180|0.50180	-0.8858|-0.8858	10|5	0.72032|.	D|.	0.01|.	-6.4438|-6.4438	13.9873|13.9873	0.64343|0.64343	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1400|.	A0JNW5|.	UH1BL_HUMAN|.	H|I	1400;1050|161	ENSP00000279907:Q1400H;ENSP00000444824:Q1050H|.	ENSP00000279907:Q1400H|.	Q|R	-|-	3|2	2|0	UHRF1BP1L|UHRF1BP1L	98957580|98957580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	1.806000|1.806000	0.38892|0.38892	2.360000|2.360000	0.80028|0.80028	0.655000|0.655000	0.94253|0.94253	CAG|AGA		PASS	0.453	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		30	57	30	57	---	---	---	---
GLT8D2	83468	broad.mit.edu	37	12	104413419	104413419	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:104413419A>G	ENST00000360814.4	-	3	413	c.8T>C	c.(7-9)cTg>cCg	p.L3P	GLT8D2_ENST00000546436.1_Missense_Mutation_p.L3P|GLT8D2_ENST00000547583.1_Missense_Mutation_p.L3P|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L3P	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	3						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L3P(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTTTCGTAACAGAGCCATGTG	0.338																																						uc001tkh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(7-9)CTG>CCG		glycosyltransferase 8 domain containing 2							69.0	67.0	68.0					12																	104413419		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104413419A>G	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.8T>C	12.37:g.104413419A>G	ENSP00000354053:p.Leu3Pro					GLT8D2_uc001tki.1_Missense_Mutation_p.L3P	p.L3P	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			3	414	-			3			Cytoplasmic (Potential).		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.8T>C	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826427	0.50739	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000547583	T;T;T;T	0.62498	1.06;1.06;1.06;0.02	4.39	4.39	0.52855	.	0.625286	0.16071	N	0.231015	T	0.51312	0.1667	L	0.32530	0.975	0.58432	D	0.999999	P	0.46395	0.877	B	0.40534	0.332	T	0.57051	-0.7877	10	0.66056	D	0.02	.	11.7886	0.52057	1.0:0.0:0.0:0.0	.	3	Q9H1C3	GL8D2_HUMAN	P	3	ENSP00000354053:L3P;ENSP00000449750:L3P;ENSP00000447450:L3P;ENSP00000448065:L3P	ENSP00000354053:L3P	L	-	2	0	GLT8D2	102937549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.776000	0.62354	1.929000	0.55896	0.533000	0.62120	CTG		PASS	0.338	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		9	22	9	22	---	---	---	---
DAO	1610	broad.mit.edu	37	12	109283249	109283249	+	Missense_Mutation	SNP	C	C	T	rs532474005		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:109283249C>T	ENST00000228476.3	+	4	518	c.314C>T	c.(313-315)cCt>cTt	p.P105L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	105					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.P105L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CTTCAGGACCCTTCCTGGAAG	0.527																																						uc001tnr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(313-315)CCT>CTT		D-amino-acid oxidase							79.0	74.0	76.0					12																	109283249		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109283249C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.314C>T	12.37:g.109283249C>T	ENSP00000228476:p.Pro105Leu					DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	p.P105L	NM_001917	NP_001908	P14920	OXDA_HUMAN			4	467	+			105					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.314C>T	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307717	0.81247	.	.	ENSG00000110887	ENST00000228476;ENST00000547166	T;T	0.80909	-1.43;-1.43	5.92	5.92	0.95590	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90334	0.4354	10	0.46703	T	0.11	-33.5173	18.8987	0.92433	0.0:1.0:0.0:0.0	.	105	P14920	OXDA_HUMAN	L	105	ENSP00000228476:P105L;ENSP00000447104:P105L	ENSP00000228476:P105L	P	+	2	0	DAO	107807378	1.000000	0.71417	0.997000	0.53966	0.525000	0.34531	7.071000	0.76770	2.813000	0.96785	0.561000	0.74099	CCT		PASS	0.527	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			15	83	15	83	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111336867	111336867	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:111336867A>G	ENST00000308208.5	+	10	1522	c.1280A>G	c.(1279-1281)aAg>aGg	p.K427R	CCDC63_ENST00000552694.1_Missense_Mutation_p.K348R|CCDC63_ENST00000545036.1_Missense_Mutation_p.K387R	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	427								p.K427R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GACGCCACCAAGATCCTGGTG	0.488																																						uc001trv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(1279-1281)AAG>AGG		coiled-coil domain containing 63							99.0	88.0	92.0					12																	111336867		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111336867A>G	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1280A>G	12.37:g.111336867A>G	ENSP00000312399:p.Lys427Arg					CCDC63_uc010sye.1_Missense_Mutation_p.K387R|CCDC63_uc001trw.1_Missense_Mutation_p.K342R	p.K427R	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			10	1475	+			427					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1280A>G	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.517812	0.27211	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.41758	0.99;0.99;0.99	4.49	3.34	0.38264	.	1.091160	0.06743	N	0.778639	T	0.34658	0.0905	L	0.44542	1.39	0.21064	N	0.999796	B	0.09022	0.002	B	0.09377	0.004	T	0.28713	-1.0035	10	0.18276	T	0.48	.	7.9658	0.30098	0.9021:0.0:0.0979:0.0	.	427	Q8NA47	CCD63_HUMAN	R	387;427;348	ENSP00000445881:K387R;ENSP00000312399:K427R;ENSP00000450217:K348R	ENSP00000312399:K427R	K	+	2	0	CCDC63	109821250	0.980000	0.34600	0.983000	0.44433	0.862000	0.49288	2.532000	0.45659	0.831000	0.34780	0.443000	0.29094	AAG		PASS	0.488	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		9	54	9	54	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117768451	117768451	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:117768451C>T	ENST00000338101.4	-	1	428	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	NOS1_ENST00000344089.3_Missense_Mutation_p.G142S|NOS1_ENST00000317775.6_Missense_Mutation_p.G142S|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.G142S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTTCTTTGCCGGCCGGTGGC	0.662																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(424-426)GGC>AGC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						36.0	40.0	39.0					12																	117768451		1874	4089	5963	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768451C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.424G>A	12.37:g.117768451C>T	ENSP00000337459:p.Gly142Ser						p.G142S	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1110	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		142			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.424G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	4.371	0.068491	0.08436	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.04862	5.07;3.54;5.07	4.8	-2.11	0.07187	.	0.685302	0.16729	N	0.201936	T	0.02571	0.0078	N	0.20685	0.6	0.21290	N	0.999739	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	10	0.02654	T	1	-3.986	4.3136	0.10982	0.1786:0.3896:0.0:0.4318	.	142	P29475	NOS1_HUMAN	S	142	ENSP00000320758:G142S;ENSP00000339862:G142S;ENSP00000337459:G142S	ENSP00000320758:G142S	G	-	1	0	NOS1	116252834	0.000000	0.05858	0.590000	0.28732	0.112000	0.19704	-2.023000	0.01438	-0.585000	0.05905	-0.378000	0.06908	GGC		PASS	0.662	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			19	60	19	60	---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123099563	123099563	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:123099563G>A	ENST00000333479.7	+	56	6080	c.5903G>A	c.(5902-5904)tGt>tAt	p.C1968Y	KNTC1_ENST00000450485.2_Missense_Mutation_p.C893Y|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.C393Y	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1968					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.C1968Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGAGCTGTGTTTAGAATAC	0.403																																						uc001ucv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(5902-5904)TGT>TAT		Rough Deal homolog, centromere/kinetochore							95.0	91.0	92.0					12																	123099563		1849	4091	5940	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123099563G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5903G>A	12.37:g.123099563G>A	ENSP00000328236:p.Cys1968Tyr					KNTC1_uc010taf.1_Missense_Mutation_p.C893Y	p.C1968Y	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	56	6066	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1968					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5903G>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923137	0.92319	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.17	6.17	0.99709	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.078699	0.85682	D	0.000000	T	0.61223	0.2330	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.89917	1.0;0.991	D;D	0.91635	0.999;0.941	T	0.59188	-0.7501	10	0.87932	D	0	-17.4822	20.8794	0.99867	0.0:0.0:1.0:0.0	.	893;1968	E7ES84;P50748	.;KNTC1_HUMAN	Y	893;1968;393;129	ENSP00000397992:C893Y;ENSP00000328236:C1968Y;ENSP00000443622:C393Y;ENSP00000439119:C129Y	ENSP00000328236:C1968Y	C	+	2	0	KNTC1	121665516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.306000	0.96204	2.941000	0.99782	0.655000	0.94253	TGT		PASS	0.403	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			9	22	9	22	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124839417	124839417	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:124839417C>A	ENST00000405201.1	-	25	3450	c.3450G>T	c.(3448-3450)atG>atT	p.M1150I	NCOR2_ENST00000429285.2_Missense_Mutation_p.M1140I|NCOR2_ENST00000397355.1_Missense_Mutation_p.M1141I|NCOR2_ENST00000404621.1_Missense_Mutation_p.M1140I|NCOR2_ENST00000356219.3_Missense_Mutation_p.M1157I|NCOR2_ENST00000404121.2_Missense_Mutation_p.M711I			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1158					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.M1157I(1)|p.M1150I(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGCAGCCCCATGGTGACAG	0.677																																						uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3472-3474)ATG>ATT		nuclear receptor co-repressor 2 isoform 2							44.0	50.0	48.0					12																	124839417		1951	4138	6089	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124839417C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3450G>T	12.37:g.124839417C>A	ENSP00000384018:p.Met1150Ile					NCOR2_uc010tay.1_Missense_Mutation_p.M1157I|NCOR2_uc010taz.1_Missense_Mutation_p.M1141I|NCOR2_uc010tbb.1_Missense_Mutation_p.M1150I|NCOR2_uc010tbc.1_Missense_Mutation_p.M1140I|NCOR2_uc001ugj.1_Missense_Mutation_p.M1158I	p.M1158I	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	25	3591	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1158					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3474G>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980128	0.53827	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.34667	2.12;2.39;2.12;2.39;2.13;2.39;1.35	4.46	3.57	0.40892	.	0.096416	0.64402	D	0.000001	T	0.51550	0.1681	L	0.54323	1.7	0.40397	D	0.979614	D;D;D	0.60575	0.988;0.972;0.962	P;P;D	0.66716	0.733;0.519;0.946	T	0.54476	-0.8288	10	0.72032	D	0.01	-21.8895	11.9823	0.53127	0.0:0.9147:0.0:0.0853	.	1140;1141;1150	C9J0Q5;C9J239;C9JFD3	.;.;.	I	1150;1140;1157;1141;1149;711;1140;1158	ENSP00000384018:M1150I;ENSP00000384202:M1140I;ENSP00000348551:M1157I;ENSP00000380513:M1141I;ENSP00000385618:M711I;ENSP00000400281:M1140I;ENSP00000402808:M1158I	ENSP00000348551:M1157I	M	-	3	0	NCOR2	123405370	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.858000	0.48356	0.856000	0.35383	0.407000	0.27541	ATG		PASS	0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		17	46	17	46	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124839419	124839419	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr12:124839419T>A	ENST00000405201.1	-	25	3448	c.3448A>T	c.(3448-3450)Atg>Ttg	p.M1150L	NCOR2_ENST00000429285.2_Missense_Mutation_p.M1140L|NCOR2_ENST00000397355.1_Missense_Mutation_p.M1141L|NCOR2_ENST00000404621.1_Missense_Mutation_p.M1140L|NCOR2_ENST00000356219.3_Missense_Mutation_p.M1157L|NCOR2_ENST00000404121.2_Missense_Mutation_p.M711L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1158					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.M1150L(1)|p.M1157L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGCCCCATGGTGACAGGG	0.672																																						uc010tba.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(3472-3474)ATG>TTG		nuclear receptor co-repressor 2 isoform 2							44.0	51.0	49.0					12																	124839419		1953	4140	6093	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124839419T>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3448A>T	12.37:g.124839419T>A	ENSP00000384018:p.Met1150Leu					NCOR2_uc010tay.1_Missense_Mutation_p.M1157L|NCOR2_uc010taz.1_Missense_Mutation_p.M1141L|NCOR2_uc010tbb.1_Missense_Mutation_p.M1150L|NCOR2_uc010tbc.1_Missense_Mutation_p.M1140L|NCOR2_uc001ugj.1_Missense_Mutation_p.M1158L	p.M1158L	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	25	3589	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1158					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.3472A>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026767	0.54683	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.24151	2.55;2.83;2.57;2.83;2.55;2.82;1.87	4.46	1.97	0.26223	.	0.096416	0.64402	N	0.000001	T	0.18173	0.0436	N	0.13235	0.315	0.33735	D	0.618672	P;P;P	0.50819	0.939;0.869;0.826	B;B;P	0.57009	0.427;0.23;0.811	T	0.29792	-1.0000	10	0.02654	T	1	-21.8895	5.8986	0.18953	0.1469:0.0824:0.0:0.7707	.	1140;1141;1150	C9J0Q5;C9J239;C9JFD3	.;.;.	L	1150;1140;1157;1141;1149;711;1140;1158	ENSP00000384018:M1150L;ENSP00000384202:M1140L;ENSP00000348551:M1157L;ENSP00000380513:M1141L;ENSP00000385618:M711L;ENSP00000400281:M1140L;ENSP00000402808:M1158L	ENSP00000348551:M1157L	M	-	1	0	NCOR2	123405372	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.865000	0.48412	0.096000	0.17463	0.334000	0.21626	ATG		PASS	0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		17	47	17	47	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426215	20426215	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr13:20426215C>A	ENST00000337963.4	-	3	370	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C	ZMYM5_ENST00000382907.4_Missense_Mutation_p.G36C|ZMYM5_ENST00000382905.4_Missense_Mutation_p.G36C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	36						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G36C(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GCTGGATGACCAAATGAATCC	0.413																																						uc010tcn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(106-108)GGT>TGT		zinc finger protein 237 isoform 3							176.0	171.0	173.0					13																	20426215		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20426215C>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.106G>T	13.37:g.20426215C>A	ENSP00000337034:p.Gly36Cys					ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.G36C|ZMYM5_uc001umo.2_Missense_Mutation_p.G36C	p.G36C	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	371	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	36					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.106G>T		.	.	.	.	.	.	.	.	.	.	C	13.77	2.335352	0.41398	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.49	4.49	0.54785	.	.	.	.	.	T	0.53883	0.1824	M	0.62723	1.935	0.38487	D	0.947877	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.97;0.994;0.994	T	0.61436	-0.7063	9	0.87932	D	0	-0.8746	17.7151	0.88333	0.0:1.0:0.0:0.0	.	36;36;36	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	C	36;26;36;36	ENSP00000337034:G36C;ENSP00000445779:G26C;ENSP00000372364:G36C;ENSP00000372361:G36C	ENSP00000337034:G36C	G	-	1	0	ZMYM5	19324215	1.000000	0.71417	0.931000	0.37212	0.134000	0.20937	2.625000	0.46452	2.494000	0.84150	0.561000	0.74099	GGT		PASS	0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		38	168	38	168	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454735	84454735	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr13:84454735G>T	ENST00000377084.2	-	1	1793	c.908C>A	c.(907-909)tCt>tAt	p.S303Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	303					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.S303Y(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTTGGAGCAGACCCTGGTGT	0.562																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(907-909)TCT>TAT		slit and trk like 1 protein precursor							75.0	74.0	74.0					13																	84454735		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454735G>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.908C>A	13.37:g.84454735G>T	ENSP00000366288:p.Ser303Tyr						p.S303Y	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1794	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	303			Extracellular (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.908C>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911952	0.33721	.	.	ENSG00000178235	ENST00000377084	T	0.59502	0.26	4.85	4.85	0.62838	.	0.399450	0.28647	N	0.014616	T	0.52191	0.1719	N	0.19112	0.55	0.50632	D	0.999884	B	0.25563	0.129	B	0.38755	0.281	T	0.55964	-0.8057	10	0.59425	D	0.04	-2.2865	16.699	0.85343	0.0:0.0:1.0:0.0	.	303	Q96PX8	SLIK1_HUMAN	Y	303	ENSP00000366288:S303Y	ENSP00000366288:S303Y	S	-	2	0	SLITRK1	83352736	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.365000	0.66116	2.525000	0.85131	0.555000	0.69702	TCT		PASS	0.562	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		13	59	13	59	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327856	88327856	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr13:88327856C>A	ENST00000325089.6	+	2	432	c.213C>A	c.(211-213)atC>atA	p.I71I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	71					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.I71I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGGGATCATCAGTCTCTCTG	0.448																																						uc001vln.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(211-213)ATC>ATA		SLIT and NTRK-like family, member 5 precursor							170.0	160.0	164.0					13																	88327856		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327856C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.213C>A	13.37:g.88327856C>A						SLITRK5_uc010tic.1_Intron	p.I71I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	432	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		71			Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.213C>A	CCDS9465.1																																																																																				PASS	0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			60	176	60	176	---	---	---	---
DCT	1638	broad.mit.edu	37	13	95095825	95095825	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr13:95095825C>T	ENST00000377028.5	-	7	1659	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	DCT_ENST00000446125.1_Missense_Mutation_p.A449T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	416					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.A449T(1)|p.A416T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGAGGCCAGGCATCTGCAGGA	0.428																																						uc001vlv.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1246-1248)GCC>ACC		dopachrome tautomerase isoform 1							84.0	79.0	81.0					13																	95095825		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95095825C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1246G>A	13.37:g.95095825C>T	ENSP00000366227:p.Ala416Thr					DCT_uc010afh.2_Missense_Mutation_p.A449T	p.A416T	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	7	1673	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	416			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.1246G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682797	0.47991	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99060	-5.14;-5.38	5.59	5.59	0.84812	Uncharacterised domain, di-copper centre (2);	0.108239	0.64402	D	0.000006	D	0.97040	0.9033	N	0.20530	0.585	0.48288	D	0.999621	B;P	0.49635	0.13;0.926	B;P	0.46917	0.068;0.531	D	0.96412	0.9305	10	0.09590	T	0.72	-15.9032	19.6028	0.95570	0.0:1.0:0.0:0.0	.	449;416	Q09GT4;P40126	.;TYRP2_HUMAN	T	23;416;449	ENSP00000366227:A416T;ENSP00000392762:A449T	ENSP00000366220:A23T	A	-	1	0	DCT	93893826	0.998000	0.40836	0.997000	0.53966	0.912000	0.54170	3.731000	0.55013	2.625000	0.88918	0.650000	0.86243	GCC		PASS	0.428	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			8	48	8	48	---	---	---	---
BIVM	54841	broad.mit.edu	37	13	103460094	103460094	+	Splice_Site	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr13:103460094A>T	ENST00000257336.1	+	3	1156	c.477A>T	c.(475-477)tcA>tcT	p.S159S	BIVM-ERCC5_ENST00000602836.1_Splice_Site_p.R131W|BIVM_ENST00000419638.1_Splice_Site_p.S159S|BIVM_ENST00000448849.2_Intron	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	159						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.S159S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACACAAATCAGGTAAGGAGG	0.378																																						uc001vpu.1										Mis|N|F						skin basal cell|skin squamous cell|melanoma			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(475-477)TCA>TCT	Direct_reversal_of_damage|NER	XPG-complementing protein							29.0	30.0	29.0					13																	103460094		2203	4298	6501	SO:0001630	splice_region_variant	2073	Xeroderma_Pigmentosum			negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103460094A>T	AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.478+1A>T	13.37:g.103460094A>T						BIVM_uc001vps.2_Silent_p.S159S|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Silent_p.S159S	p.S159S	NM_000123	NP_000114	P28715	ERCC5_HUMAN			1	599	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q2M1J2|Q9NXM4	Silent	SNP	ENST00000257336.1	37	c.477A>T	CCDS9505.1																																																																																				PASS	0.378	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		Silent	6	31	6	31	---	---	---	---
SLC7A7	9056	broad.mit.edu	37	14	23242900	23242900	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr14:23242900G>T	ENST00000397532.3	-	10	1980	c.1455C>A	c.(1453-1455)gtC>gtA	p.V485V	SLC7A7_ENST00000554517.1_Silent_p.V219V|SLC7A7_ENST00000555702.1_Silent_p.V485V|SLC7A7_ENST00000397529.2_Silent_p.V485V|SLC7A7_ENST00000397528.4_Silent_p.V485V|SLC7A7_ENST00000285850.7_Silent_p.V485V|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	485					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.V485V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACATACACAGGACCTGGAGGT	0.473																																						uc001wgr.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1453-1455)GTC>GTA		solute carrier family 7 member 7							118.0	103.0	108.0					14																	23242900		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23242900G>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1455C>A	14.37:g.23242900G>T						SLC7A7_uc001wgs.3_Silent_p.V485V|SLC7A7_uc001wgt.3_Silent_p.V485V|SLC7A7_uc001wgu.3_Silent_p.V485V|SLC7A7_uc001wgv.3_Silent_p.V485V	p.V485V	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	10	1593	-	all_cancers(95;8.44e-05)		485					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1455C>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986593	0.18889	.	.	ENSG00000155465	ENST00000556350	.	.	.	5.52	2.48	0.30137	.	.	.	.	.	T	0.47673	0.1458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	.	4.8222	0.13396	0.2539:0.1603:0.5858:0.0	.	.	.	.	Y	150	.	.	S	-	2	0	SLC7A7	22312740	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	1.134000	0.31442	1.339000	0.45563	0.563000	0.77884	TCC		PASS	0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			23	85	23	85	---	---	---	---
DLGAP5	9787	broad.mit.edu	37	14	55636119	55636119	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr14:55636119G>T	ENST00000247191.2	-	12	1762	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.Q516K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	516					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.Q516K(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCACATACCTGAAAACTAACC	0.323																																						uc001xbs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1546-1548)CAG>AAG		discs large homolog 7 isoform a							99.0	94.0	96.0					14																	55636119		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55636119G>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1546C>A	14.37:g.55636119G>T	ENSP00000247191:p.Gln516Lys					DLGAP5_uc001xbt.2_Missense_Mutation_p.Q516K	p.Q516K	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			12	1763	-			516					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1546C>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644612	0.67358	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.20200	2.09;2.09	5.85	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.972;0.992	T	0.61564	-0.7037	10	0.72032	D	0.01	.	16.0203	0.80478	0.0674:0.0:0.9326:0.0	.	516;516	A8MTM6;Q15398	.;DLGP5_HUMAN	K	516	ENSP00000378815:Q516K;ENSP00000247191:Q516K	ENSP00000247191:Q516K	Q	-	1	0	DLGAP5	54705872	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.297000	0.78799	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		36	83	36	83	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95058452	95058452	+	Missense_Mutation	SNP	C	C	A	rs150557947		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr14:95058452C>A	ENST00000554866.1	+	5	1211	c.1097C>A	c.(1096-1098)aCg>aAg	p.T366K	SERPINA5_ENST00000554276.1_Missense_Mutation_p.T366K|SERPINA5_ENST00000329597.7_Missense_Mutation_p.T366K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.T366K|RP11-986E7.7_ENST00000553947.1_Silent_p.R20R			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	366					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T366K(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCGGCAGCCACGGGGACAATA	0.567																																						uc001ydm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1096-1098)ACG>AAG		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						175.0	182.0	180.0					14																	95058452		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058452C>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1097C>A	14.37:g.95058452C>A	ENSP00000451126:p.Thr366Lys					SERPINA3_uc001ydo.3_5'UTR	p.T366K	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1307	+			366					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1097C>A	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655548	0.67586	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.49	4.61	0.57282	Serpin domain (3);	0.087602	0.47455	D	0.000228	D	0.93530	0.7935	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	P	0.58172	0.834	D	0.94504	0.7712	10	0.87932	D	0	.	11.8832	0.52587	0.0:0.9179:0.0:0.0821	.	366	P05154	IPSP_HUMAN	K	366;366;366;142;218;290;366	ENSP00000450837:T366K;ENSP00000451126:T366K;ENSP00000333203:T366K;ENSP00000451610:T366K	ENSP00000333203:T366K	T	+	2	0	SERPINA5	94128205	0.899000	0.30636	0.038000	0.18304	0.022000	0.10575	3.419000	0.52728	1.450000	0.47717	-0.137000	0.14449	ACG		PASS	0.567	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		110	273	110	273	---	---	---	---
AK7	122481	broad.mit.edu	37	14	96909082	96909082	+	Nonsense_Mutation	SNP	G	G	T	rs114393353		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr14:96909082G>T	ENST00000267584.4	+	7	750	c.706G>T	c.(706-708)Gag>Tag	p.E236*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	236					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E236*(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGGTTGGGCGAGATTCCTGC	0.448																																						uc001yfn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(706-708)GAG>TAG		adenylate kinase 7							299.0	265.0	277.0					14																	96909082		2203	4300	6503	SO:0001587	stop_gained	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96909082G>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.706G>T	14.37:g.96909082G>T	ENSP00000267584:p.Glu236*						p.E236*	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	7	750	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	236			Potential.		Q8IYP6	Nonsense_Mutation	SNP	ENST00000267584.4	37	c.706G>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703418	0.68501	.	.	ENSG00000140057	ENST00000267584	.	.	.	4.64	4.64	0.57946	.	0.456133	0.23556	N	0.046908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-3.6097	15.337	0.74266	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000267584:E236X	E	+	1	0	AK7	95978835	1.000000	0.71417	0.131000	0.22000	0.070000	0.16714	6.262000	0.72514	2.266000	0.75297	0.563000	0.77884	GAG		PASS	0.448	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			43	196	43	196	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419189	105419189	+	Missense_Mutation	SNP	C	C	T	rs369984421		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr14:105419189C>T	ENST00000333244.5	-	7	2718	c.2599G>A	c.(2599-2601)Gtg>Atg	p.V867M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	867						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V867M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGAGGCTCACGTCGGCCTCC	0.612																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2599-2601)GTG>ATG		AHNAK nucleoprotein 2		C	MET/VAL	0,3908		0,0,1954	146.0	163.0	158.0		2599	2.1	0.0	14		158	1,8279		0,1,4139	no	missense	AHNAK2	NM_138420.2	21	0,1,6093	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	867/5796	105419189	1,12187	1954	4140	6094	SO:0001583	missense	113146					nucleus		g.chr14:105419189C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2599G>A	14.37:g.105419189C>T	ENSP00000353114:p.Val867Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V767M	p.V867M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2719	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	867					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2599G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	15.85	2.955780	0.53293	0.0	1.21E-4	ENSG00000185567	ENST00000333244	T	0.01304	5.03	4.02	2.1	0.27182	.	.	.	.	.	T	0.06142	0.0159	M	0.65498	2.005	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21314	-1.0249	9	0.66056	D	0.02	-12.6447	8.3507	0.32301	0.0:0.7533:0.1567:0.0899	.	867	Q8IVF2	AHNK2_HUMAN	M	867	ENSP00000353114:V867M	ENSP00000353114:V867M	V	-	1	0	AHNAK2	104490234	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.385000	0.07379	0.157000	0.19338	0.491000	0.48974	GTG		PASS	0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		65	266	65	266	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29393969	29393969	+	Silent	SNP	T	T	C	rs374089842		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr15:29393969T>C	ENST00000558402.1	+	11	2105	c.1506T>C	c.(1504-1506)caT>caC	p.H502H	APBA2_ENST00000561069.1_Silent_p.H502H|APBA2_ENST00000558259.1_Silent_p.H502H|APBA2_ENST00000411764.1_Silent_p.H490H|APBA2_ENST00000558330.1_Silent_p.H490H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	502	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.H502H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGATCTGCCATGTGTTCGAGT	0.612																																						uc001zck.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1504-1506)CAT>CAC		amyloid beta A4 precursor protein-binding,		T	,	0,4406		0,0,2203	72.0	53.0	59.0		1470,1506	-3.9	1.0	15		59	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	,	490/738,502/750	29393969	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29393969T>C	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1506T>C	15.37:g.29393969T>C						APBA2_uc010azj.2_Silent_p.H490H|APBA2_uc010uat.1_Silent_p.H490H|APBA2_uc001zcl.2_Silent_p.H490H|APBA2_uc001zcm.1_Silent_p.H194H	p.H502H	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	9	1713	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	502			PID.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.1506T>C	CCDS10022.1																																																																																				PASS	0.612	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		9	22	9	22	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48777639	48777639	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr15:48777639G>C	ENST00000316623.5	-	30	4099	c.3644C>G	c.(3643-3645)tCt>tGt	p.S1215C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1215	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1215C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTGCCTTCAGAGTTTGTGCA	0.418																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(3643-3645)TCT>TGT		fibrillin 1 precursor							124.0	112.0	116.0					15																	48777639		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48777639G>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3644C>G	15.37:g.48777639G>C	ENSP00000325527:p.Ser1215Cys						p.S1215C	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	30	3972	-		all_lung(180;0.00279)	1215			EGF-like 19; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.3644C>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092091	0.94149	.	.	ENSG00000166147	ENST00000316623	D	0.96830	-4.14	6.05	6.05	0.98169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.055257	0.85682	D	0.000000	D	0.97213	0.9089	M	0.67625	2.065	0.80722	D	1	D	0.63046	0.992	P	0.54401	0.751	D	0.97202	0.9865	10	0.72032	D	0.01	.	20.2037	0.98272	0.0:0.0:1.0:0.0	.	1215	P35555	FBN1_HUMAN	C	1215	ENSP00000325527:S1215C	ENSP00000325527:S1215C	S	-	2	0	FBN1	46564931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.866000	0.98385	0.650000	0.86243	TCT		PASS	0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			25	91	25	91	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74559079	74559079	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr15:74559079C>T	ENST00000398814.3	+	4	811	c.380C>T	c.(379-381)cCc>cTc	p.P127L	CCDC33_ENST00000321288.5_Missense_Mutation_p.P330L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	330								p.P127L(1)|p.P330L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TACAAAATCCCCATCAAGTAC	0.493																																						uc002axo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(379-381)CCC>CTC		coiled-coil domain containing 33 isoform 1							154.0	150.0	151.0					15																	74559079		1933	4143	6076	SO:0001583	missense	80125						protein binding	g.chr15:74559079C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.380C>T	15.37:g.74559079C>T	ENSP00000381795:p.Pro127Leu					CCDC33_uc002axp.2_5'UTR	p.P127L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			4	774	+			330					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.380C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803468	0.70682	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.47528	0.84;0.84	4.45	4.45	0.53987	.	0.000000	0.51477	D	0.000081	T	0.67069	0.2854	M	0.76002	2.32	0.53688	D	0.999977	D	0.89917	1.0	D	0.87578	0.998	T	0.71530	-0.4565	10	0.87932	D	0	.	12.946	0.58373	0.0:1.0:0.0:0.0	.	127	Q8N5R6-6	.	L	330;127	ENSP00000325012:P330L;ENSP00000381795:P127L	ENSP00000325012:P330L	P	+	2	0	CCDC33	72346132	0.966000	0.33281	0.977000	0.42913	0.986000	0.74619	3.811000	0.55620	2.194000	0.70268	0.462000	0.41574	CCC		PASS	0.493	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		24	136	24	136	---	---	---	---
C15orf26	161502	broad.mit.edu	37	15	81436089	81436089	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr15:81436089C>T	ENST00000286732.4	+	5	647	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	188								p.S188S(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATGAGGTCTCCCATGTGAACT	0.537																																						uc002bgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)TCC>TCT		hypothetical protein LOC161502							158.0	155.0	156.0					15																	81436089		2011	4166	6177	SO:0001819	synonymous_variant	161502							g.chr15:81436089C>T	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.564C>T	15.37:g.81436089C>T						C15orf26_uc010blp.1_Silent_p.S163S	p.S188S	NM_173528	NP_775799	Q6P656	CO026_HUMAN			5	591	+			188					Q8N906	Silent	SNP	ENST00000286732.4	37	c.564C>T	CCDS42068.1																																																																																				PASS	0.537	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528		38	127	38	127	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86259125	86259125	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr15:86259125C>T	ENST00000394518.2	+	20	5801	c.5706C>T	c.(5704-5706)tcC>tcT	p.S1902S	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.S147S|AKAP13_ENST00000361243.2_Silent_p.S1906S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1902					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S1906S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTCGCTCTCCAAAAGTGTCT	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(5704-5706)TCC>TCT		A-kinase anchor protein 13 isoform 2							108.0	94.0	99.0					15																	86259125		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86259125C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5706C>T	15.37:g.86259125C>T						AKAP13_uc002blu.1_Silent_p.S1906S|AKAP13_uc010bnf.1_Silent_p.S523S|AKAP13_uc002blw.1_Silent_p.S369S|AKAP13_uc002blx.1_Silent_p.S147S	p.S1902S	NM_007200	NP_009131	Q12802	AKP13_HUMAN			20	5876	+			1902					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5706C>T	CCDS32319.1																																																																																				PASS	0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		21	69	21	69	---	---	---	---
SOX8	30812	broad.mit.edu	37	16	1035307	1035307	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:1035307A>G	ENST00000293894.3	+	3	1377	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	421					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N421S(1)		central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCTGCTCAACGGCCTGGCC	0.716																																						uc002ckn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1261-1263)AAC>AGC		SRY (sex determining region Y)-box 8							15.0	15.0	15.0					16																	1035307		2189	4286	6475	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035307A>G	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1262A>G	16.37:g.1035307A>G	ENSP00000293894:p.Asn421Ser						p.N421S	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1377	+		Hepatocellular(780;0.00308)	421					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.1262A>G	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273795	0.23221	.	.	ENSG00000005513	ENST00000293894	T	0.77877	-1.13	4.31	3.14	0.36123	.	0.139235	0.64402	N	0.000005	T	0.69878	0.3160	L	0.54323	1.7	0.42234	D	0.991907	B	0.15141	0.012	B	0.13407	0.009	T	0.65821	-0.6075	10	0.66056	D	0.02	.	7.1051	0.25358	0.8768:0.0:0.1232:0.0	.	421	P57073	SOX8_HUMAN	S	421	ENSP00000293894:N421S	ENSP00000293894:N421S	N	+	2	0	SOX8	975308	1.000000	0.71417	0.451000	0.26982	0.595000	0.36748	4.578000	0.60929	0.662000	0.31006	0.529000	0.55759	AAC		PASS	0.716	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			6	12	6	12	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3544718	3544718	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:3544718A>T	ENST00000437192.3	-	2	208	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	59								p.L69Q(1)		large_intestine(1)	1						GTGGCTCTCCAGGTAGAGGCC	0.726																																						uc002cvi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)CTG>CAG		hypothetical protein LOC646174							10.0	13.0	12.0					16																	3544718		1868	4063	5931	SO:0001583	missense	646174							g.chr16:3544718A>T		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.206T>A	16.37:g.3544718A>T	ENSP00000401335:p.Leu69Gln						p.L69Q	NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN			2	206	-			59						Missense_Mutation	SNP	ENST00000437192.3	37	c.206T>A	CCDS45397.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679976	0.47886	.	.	ENSG00000215131	ENST00000437192	.	.	.	5.7	5.7	0.88788	.	0.000000	0.26887	U	0.021981	T	0.58409	0.2120	L	0.36672	1.1	0.32336	N	0.560424	D	0.76494	0.999	D	0.87578	0.998	T	0.68040	-0.5514	9	0.87932	D	0	-0.5425	12.3369	0.55073	1.0:0.0:0.0:0.0	.	69	A8MZG2-2	.	Q	69	.	ENSP00000401335:L69Q	L	-	2	0	C16orf90	3484719	1.000000	0.71417	0.960000	0.40013	0.088000	0.18126	2.953000	0.49105	2.173000	0.68751	0.482000	0.46254	CTG		PASS	0.726	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		8	16	8	16	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50666270	50666270	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:50666270C>G	ENST00000268459.3	+	9	998	c.774C>G	c.(772-774)caC>caG	p.H258Q		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	258					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H258Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GGAGAAACCACTACTTAGATC	0.577																																						uc002egg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CAC>CAG		naked cuticle homolog 1							109.0	83.0	92.0					16																	50666270		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666270C>G	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.774C>G	16.37:g.50666270C>G	ENSP00000268459:p.His258Gln						p.H258Q	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	998	+		all_cancers(37;0.229)	258					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.774C>G	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930069	0.73327	.	.	ENSG00000140807	ENST00000268459	T	0.79940	-1.32	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	M	0.83603	2.65	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.91902	0.5532	10	0.72032	D	0.01	-20.7623	18.6084	0.91275	0.0:1.0:0.0:0.0	.	258	Q969G9	NKD1_HUMAN	Q	258	ENSP00000268459:H258Q	ENSP00000268459:H258Q	H	+	3	2	NKD1	49223771	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.649000	0.54417	2.403000	0.81681	0.563000	0.77884	CAC		PASS	0.577	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			11	36	11	36	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57762439	57762439	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:57762439C>A	ENST00000360716.3	+	17	2555	c.2334C>A	c.(2332-2334)agC>agA	p.S778R	CCDC135_ENST00000336825.8_Missense_Mutation_p.S713R|CCDC135_ENST00000394337.4_Missense_Mutation_p.S778R			Q8IY82	CC135_HUMAN		778					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.S778R(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGTGCCTCAGCGACTTCAAGC	0.617																																						uc002emi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2332-2334)AGC>AGA		coiled-coil domain containing 135							42.0	41.0	42.0					16																	57762439		2196	4295	6491	SO:0001583	missense	84229					cytoplasm		g.chr16:57762439C>A																												ENST00000360716.3:c.2334C>A	16.37:g.57762439C>A	ENSP00000353942:p.Ser778Arg					CCDC135_uc002emj.2_Missense_Mutation_p.S778R|CCDC135_uc002emk.2_Missense_Mutation_p.S713R	p.S778R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			16	2423	+			778					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2334C>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	c	13.29	2.193335	0.38707	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.48201	0.82;0.82;0.82	5.15	-5.8	0.02347	.	0.821415	0.11630	N	0.544865	T	0.46328	0.1387	L	0.50333	1.59	0.27591	N	0.94929	P;P	0.52316	0.952;0.754	P;P	0.52957	0.714;0.529	T	0.50709	-0.8796	10	0.56958	D	0.05	-1.6118	9.1024	0.36676	0.0:0.2006:0.1053:0.6941	.	713;778	Q8IY82-2;Q8IY82	.;CC135_HUMAN	R	778;713;778	ENSP00000377869:S778R;ENSP00000338938:S713R;ENSP00000353942:S778R	ENSP00000338938:S713R	S	+	3	2	CCDC135	56319940	0.000000	0.05858	0.180000	0.23079	0.989000	0.77384	-2.264000	0.01173	-1.199000	0.02666	-0.320000	0.08662	AGC		PASS	0.617	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			10	29	10	29	---	---	---	---
CLEC18C	283971	broad.mit.edu	37	16	70219866	70219866	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:70219866C>T	ENST00000569347.2	+	11	1544	c.1290C>T	c.(1288-1290)taC>taT	p.Y430Y	CLEC18C_ENST00000314151.8_Silent_p.Y430Y|CLEC18C_ENST00000541793.2_Silent_p.Y430Y|CLEC18C_ENST00000536907.2_Silent_p.Y439Y	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	430	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.Y430Y(1)		endometrium(3)|large_intestine(6)|lung(1)	10						GAAACCGTTACATCTGCCAGT	0.587																																						uc002exy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1288-1290)TAC>TAT		secretory protein LOC348174 precursor							73.0	101.0	92.0					16																	70219866		2064	4297	6361	SO:0001819	synonymous_variant	283971					extracellular region	sugar binding	g.chr16:70219866C>T	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.1290C>T	16.37:g.70219866C>T						CLEC18C_uc010vlt.1_Silent_p.Y430Y|CLEC18C_uc002eyk.2_Silent_p.Y430Y	p.Y430Y	NM_182619	NP_872425	Q8NCF0	CL18C_HUMAN			12	1410	+			430			C-type lectin.		Q8IUW8	Silent	SNP	ENST00000569347.2	37	c.1290C>T	CCDS32473.1																																																																																				PASS	0.587	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		17	72	17	72	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270969	84270969	+	Nonsense_Mutation	SNP	G	G	T	rs371009755		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr16:84270969G>T	ENST00000308251.4	-	2	191	c.123C>A	c.(121-123)taC>taA	p.Y41*	KCNG4_ENST00000568181.1_Nonsense_Mutation_p.Y41*	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	41					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.Y41*(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCACCCTCCGGTAGTAAAGGC	0.632																																						uc010voc.1																			2	Substitution - Nonsense(2)		lung(2)	breast(3)	3						c.(121-123)TAC>TAA		potassium voltage-gated channel, subfamily G,		G	stop/TYR	0,4400		0,0,2200	36.0	38.0	37.0		123	5.1	1.0	16		37	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KCNG4	NM_172347.2		0,1,6499	TT,TG,GG		0.0116,0.0,0.0077		41/520	84270969	1,12999	2200	4300	6500	SO:0001587	stop_gained	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270969G>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.123C>A	16.37:g.84270969G>T	ENSP00000312129:p.Tyr41*					KCNG4_uc002fhu.1_Nonsense_Mutation_p.Y41*	p.Y41*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	244	-			41			Cytoplasmic (Potential).		Q96H24	Nonsense_Mutation	SNP	ENST00000308251.4	37	c.123C>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	37	6.321878	0.97471	0.0	1.16E-4	ENSG00000168418	ENST00000308251	.	.	.	5.12	5.12	0.69794	.	5.410240	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	17.5478	0.87867	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000312129:Y41X	Y	-	3	2	KCNG4	82828470	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.327000	0.65881	2.374000	0.81015	0.549000	0.68633	TAC		PASS	0.632	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		16	52	16	52	---	---	---	---
OR1D5	8386	broad.mit.edu	37	17	2966415	2966415	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:2966415G>T	ENST00000575751.1	-	1	486	c.487C>A	c.(487-489)Ctg>Atg	p.L163M		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	163					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L163M(2)		kidney(1)|lung(10)	11						ACCCTGGTCAGGAGGAAGGTG	0.557																																						uc010vra.1																			2	Substitution - Missense(2)		lung(2)		0						c.(541-543)CTG>ATG		olfactory receptor, family 1, subfamily D,							48.0	53.0	51.0					17																	2966415		2150	4254	6404	SO:0001583	missense	8385							g.chr17:2966415G>T	AF087923	CCDS58499.1	17p13.3	2012-10-09			ENSG00000262628	ENSG00000262628		"""GPCR / Class A : Olfactory receptors"""	8186	protein-coding gene	gene with protein product						10673334	Standard	NM_014566		Approved	OR17-31	uc021tns.1	P58170	OTTHUMG00000177676	ENST00000575751.1:c.487C>A	17.37:g.2966415G>T	ENSP00000459028:p.Leu163Met						p.L181M	NM_003552	NP_003543					1	541	-								Q96RA6	Missense_Mutation	SNP	ENST00000575751.1	37	c.541C>A	CCDS58499.1																																																																																				PASS	0.557	OR1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438410.2	NM_014566		7	36	7	36	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7690250	7690250	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:7690250G>C	ENST00000572933.1	+	42	7962	c.6502G>C	c.(6502-6504)Ggc>Cgc	p.G2168R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2168R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2168	AAA 2. {ECO:0000250}.				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.G2168R(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGTTCGATGGCCCCGTGGA	0.582																																						uc002giu.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(6502-6504)GGC>CGC		dynein heavy chain domain 3							97.0	65.0	76.0					17																	7690250		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7690250G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6502G>C	17.37:g.7690250G>C	ENSP00000458355:p.Gly2168Arg						p.G2168R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			41	6516	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2168			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6502G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060614	0.93846	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.98889	-5.21	5.05	5.05	0.67936	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97481	1.0047	10	0.87932	D	0	.	17.3337	0.87274	0.0:0.0:1.0:0.0	.	2168	Q9P225	DYH2_HUMAN	R	2168	ENSP00000373825:G2168R	ENSP00000353818:G2168R	G	+	1	0	DNAH2	7630975	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	9.465000	0.97660	2.615000	0.88500	0.573000	0.79308	GGC		PASS	0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		13	44	13	44	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395857.3_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1081L(1)|p.P1081Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCACTGACGGCTTGGGTGT	0.403																																						uc002gpo.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(3241-3243)CCG>CTG		nuclear receptor co-repressor 1							144.0	131.0	135.0					17																	15983977		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983977G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3242C>T	17.37:g.15983977G>A	ENSP00000268712:p.Pro1081Leu					NCOR1_uc002gpn.2_Missense_Mutation_p.P1097L|NCOR1_uc002gpp.1_Missense_Mutation_p.P988L|NCOR1_uc010vwb.1_5'Flank|NCOR1_uc010coy.2_5'Flank|NCOR1_uc010vwc.1_5'Flank	p.P1081L	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	24	3482	-			1081			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3242C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991598	0.93106	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82526	-1.62;-1.62	6.07	6.07	0.98685	.	0.090329	0.85682	D	0.000000	D	0.86871	0.6037	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.992;0.996	P;P	0.54460	0.57;0.753	D	0.87264	0.2281	10	0.87932	D	0	-7.9813	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1081;1097	O75376;O75376-2	NCOR1_HUMAN;.	L	1081;1097;988	ENSP00000268712:P1081L;ENSP00000379192:P1097L	ENSP00000268712:P1081L	P	-	2	0	NCOR1	15924702	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.180000	0.65048	2.885000	0.99019	0.655000	0.94253	CCG		PASS	0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		14	104	14	104	---	---	---	---
RASD1	51655	broad.mit.edu	37	17	17399430	17399430	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:17399430C>A	ENST00000225688.3	-	1	277	c.66G>T	c.(64-66)aaG>aaT	p.K22N	RASD1_ENST00000579152.1_Missense_Mutation_p.K22N	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	22					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K22N(1)		endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GATAGCAGTTCTTGGCCGGGA	0.657																																						uc002gri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)AAG>AAT		RAS, dexamethasone-induced 1 precursor							84.0	74.0	77.0					17																	17399430		2203	4300	6503	SO:0001583	missense	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399430C>A	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.66G>T	17.37:g.17399430C>A	ENSP00000225688:p.Lys22Asn						p.K22N	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN			1	278	-			22					B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	ENST00000225688.3	37	c.66G>T	CCDS11185.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249195	0.39797	.	.	ENSG00000108551	ENST00000225688	T	0.80033	-1.33	4.81	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	L	0.27975	0.815	0.80722	D	1	P	0.49358	0.923	P	0.52823	0.71	T	0.75227	-0.3392	10	0.33141	T	0.24	.	12.5237	0.56075	0.0:0.9166:0.0:0.0834	.	22	Q9Y272	RASD1_HUMAN	N	22	ENSP00000225688:K22N	ENSP00000225688:K22N	K	-	3	2	RASD1	17340155	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.718000	0.47236	2.199000	0.70637	0.655000	0.94253	AAG		PASS	0.657	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		3	40	3	40	---	---	---	---
TAOK1	57551	broad.mit.edu	37	17	27861296	27861296	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:27861296G>A	ENST00000261716.3	+	19	3041	c.2522G>A	c.(2521-2523)cGg>cAg	p.R841Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.R693Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	841					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R841Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GTCTCCCTCCGGAGGGCACTC	0.403																																						uc002hdz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2521-2523)CGG>CAG		TAO kinase 1							56.0	53.0	54.0					17																	27861296		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27861296G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2522G>A	17.37:g.27861296G>A	ENSP00000261716:p.Arg841Gln					TAOK1_uc010wbe.1_Missense_Mutation_p.R693Q|TAOK1_uc010wbf.1_Missense_Mutation_p.R841Q	p.R841Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		19	2716	+			841			Potential.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2522G>A	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.004108	0.97195	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.71222	-0.55;-0.55	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	M	0.86953	2.85	0.80722	D	1	D;P	0.64830	0.994;0.878	P;B	0.61201	0.885;0.399	D	0.87657	0.2532	10	0.87932	D	0	.	19.7543	0.96284	0.0:0.0:1.0:0.0	.	693;841	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Q	841;693	ENSP00000261716:R841Q;ENSP00000438819:R693Q	ENSP00000261716:R841Q	R	+	2	0	TAOK1	24885422	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.813000	0.99286	2.740000	0.93945	0.650000	0.86243	CGG		PASS	0.403	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		9	45	9	45	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35913588	35913588	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:35913588T>A	ENST00000339208.6	-	14	2377	c.2237A>T	c.(2236-2238)gAt>gTt	p.D746V	SYNRG_ENST00000345615.4_Missense_Mutation_p.D668V|SYNRG_ENST00000591288.1_Missense_Mutation_p.D585V|SYNRG_ENST00000585472.1_Missense_Mutation_p.D667V|SYNRG_ENST00000502449.2_Missense_Mutation_p.D668V|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.D668V|SYNRG_ENST00000346661.4_Missense_Mutation_p.D746V	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	746	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.D746V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTGAAGACATCGTACTTGGT	0.478																																						uc002hoa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2236-2238)GAT>GTT		synergin, gamma isoform 1							85.0	84.0	85.0					17																	35913588		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913588T>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2237A>T	17.37:g.35913588T>A	ENSP00000343610:p.Asp746Val					SYNRG_uc010wde.1_Missense_Mutation_p.D668V|SYNRG_uc010wdf.1_Missense_Mutation_p.D668V|SYNRG_uc002hoc.2_Missense_Mutation_p.D667V|SYNRG_uc002hoe.2_Missense_Mutation_p.D668V|SYNRG_uc002hod.2_Missense_Mutation_p.D668V|SYNRG_uc010wdg.1_Missense_Mutation_p.D585V|SYNRG_uc002hob.2_Missense_Mutation_p.D746V|SYNRG_uc002hof.2_Missense_Mutation_p.D458V|SYNRG_uc010cvd.1_Missense_Mutation_p.D546V	p.D746V	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			14	2320	-			746			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2237A>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594406	0.66219	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.59502	0.83;0.26;0.29	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.75584	-0.3267	10	0.62326	D	0.03	-17.8037	16.0034	0.80327	0.0:0.0:0.0:1.0	.	585;668;668;668;746;746	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	V	746;585;746;668;668	ENSP00000005279:D746V;ENSP00000424893:D668V;ENSP00000377903:D668V	ENSP00000343610:D585V	D	-	2	0	SYNRG	32987701	1.000000	0.71417	0.987000	0.45799	0.832000	0.47134	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	GAT		PASS	0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		24	68	24	68	---	---	---	---
KRT16	3868	broad.mit.edu	37	17	39767921	39767921	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:39767921G>A	ENST00000301653.4	-	2	648	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	195	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A195V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TGCCAGCCTGGCATTGTCAAT	0.607																																						uc002hxg.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(583-585)GCC>GTC		keratin 16							30.0	28.0	29.0					17																	39767921		2203	4284	6487	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767921G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.584C>T	17.37:g.39767921G>A	ENSP00000301653:p.Ala195Val					JUP_uc010wfs.1_Intron	p.A195V	NM_005557	NP_005548	P08779	K1C16_HUMAN			2	723	-		Breast(137;0.000307)	195			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.584C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598240	0.87055	.	.	ENSG00000186832	ENST00000301653	D	0.88586	-2.4	5.47	5.47	0.80525	Filament (1);	0.000000	0.51477	D	0.000100	D	0.91526	0.7324	M	0.79011	2.435	0.52099	D	0.999946	P	0.45902	0.868	P	0.48524	0.58	D	0.92305	0.5853	10	0.66056	D	0.02	.	15.9261	0.79618	0.0:0.1352:0.8648:0.0	.	195	P08779	K1C16_HUMAN	V	195	ENSP00000301653:A195V	ENSP00000301653:A195V	A	-	2	0	KRT16	37021447	0.979000	0.34478	1.000000	0.80357	0.614000	0.37383	3.913000	0.56394	2.724000	0.93272	0.561000	0.74099	GCC		PASS	0.607	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		3	43	3	43	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40011341	40011341	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:40011341C>G	ENST00000319121.3	-	2	838	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	260	BACK.							p.V260L(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCAGAATCAACTGTAATTTCC	0.353																																						uc002hyf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(778-780)GTT>CTT		kelch-like 11 precursor							49.0	50.0	50.0					17																	40011341		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40011341C>G		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.778G>C	17.37:g.40011341C>G	ENSP00000314608:p.Val260Leu						p.V260L	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			2	784	-		Breast(137;0.00156)	260			BACK.			Missense_Mutation	SNP	ENST00000319121.3	37	c.778G>C	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029394	0.75504	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.72725	-0.68	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	M	0.80616	2.505	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	D	0.86350	0.1710	10	0.87932	D	0	-5.7146	18.2685	0.90060	0.0:1.0:0.0:0.0	.	260	Q9NVR0	KLH11_HUMAN	L	260;123	ENSP00000314608:V260L	ENSP00000314608:V260L	V	-	1	0	KLHL11	37264867	1.000000	0.71417	0.935000	0.37517	0.895000	0.52256	7.395000	0.79876	2.296000	0.77279	0.591000	0.81541	GTT		PASS	0.353	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		17	66	17	66	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42800368	42800368	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:42800368G>C	ENST00000315005.3	+	3	341	c.203G>C	c.(202-204)gGg>gCg	p.G68A	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.G68A|DBF4B_ENST00000393547.2_Missense_Mutation_p.G68A	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	68	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.G68A(2)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTTTTGACGGGGGCCATTCAG	0.512																																						uc002ihf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(202-204)GGG>GCG		DBF4 homolog B isoform 1							64.0	64.0	64.0					17																	42800368		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42800368G>C	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.203G>C	17.37:g.42800368G>C	ENSP00000323663:p.Gly68Ala					DBF4B_uc002ihd.1_Missense_Mutation_p.G68A|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.G52A|DBF4B_uc002ihg.2_Missense_Mutation_p.G52A	p.G68A	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			3	416	+		Prostate(33;0.0322)	68			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.203G>C	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	G	4.902	0.167711	0.09339	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.78481	2.82;-1.18;2.82	3.94	-2.76	0.05896	.	1.677140	0.03592	N	0.232005	T	0.61236	0.2331	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.28713	0.22;0.106;0.03;0.106	B;B;B;B	0.26416	0.042;0.042;0.031;0.069	T	0.40001	-0.9586	10	0.16420	T	0.52	-1.6609	3.9413	0.09328	0.5025:0.0:0.3262:0.1712	.	68;52;68;68	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	A	68;68;68;68;52	ENSP00000377178:G68A;ENSP00000381381:G68A;ENSP00000323663:G68A	ENSP00000323663:G68A	G	+	2	0	DBF4B	40155894	0.000000	0.05858	0.177000	0.23020	0.963000	0.63663	-1.272000	0.02826	-0.624000	0.05611	-0.378000	0.06908	GGG		PASS	0.512	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		20	75	20	75	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56536130	56536130	+	Splice_Site	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:56536130A>G	ENST00000323777.3	-	5	1828	c.1719T>C	c.(1717-1719)ccT>ccC	p.P573P	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	573					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P573P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCCTTACCAGGGGACTTTC	0.418																																						uc002iwi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1717-1719)CCT>CCC		heat shock transcription factor family member 5							149.0	126.0	134.0					17																	56536130		2203	4300	6503	SO:0001630	splice_region_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56536130A>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1720+1T>C	17.37:g.56536130A>G							p.P573P	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			5	1843	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		573					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.1719T>C	CCDS32690.1																																																																																				PASS	0.418	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190	Silent	12	43	12	43	---	---	---	---
TBX2	6909	broad.mit.edu	37	17	59485479	59485479	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:59485479C>T	ENST00000240328.3	+	7	2032	c.1751C>T	c.(1750-1752)gCc>gTc	p.A584V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	584	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A574V(1)		endometrium(1)|lung(7)|ovary(1)	9						gcagcagcagccgcagccgcc	0.657																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1750-1752)GCC>GTC		T-box 2							18.0	21.0	20.0					17																	59485479		2194	4294	6488	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485479C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1751C>T	17.37:g.59485479C>T	ENSP00000240328:p.Ala584Val					TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.A430V	p.A584V	NM_005994	NP_005985	Q13207	TBX2_HUMAN			7	2032	+			584			Ala-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1751C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974941	0.92919	.	.	ENSG00000121068	ENST00000240328	D	0.93019	-3.15	5.01	5.01	0.66863	.	0.277274	0.39687	N	0.001295	D	0.94817	0.8326	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	D	0.92728	0.6197	10	0.21540	T	0.41	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	584	Q13207	TBX2_HUMAN	V	584	ENSP00000240328:A584V	ENSP00000240328:A584V	A	+	2	0	TBX2	56840261	1.000000	0.71417	0.887000	0.34795	0.992000	0.81027	7.210000	0.77924	2.608000	0.88229	0.655000	0.94253	GCC		PASS	0.657	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		10	28	10	28	---	---	---	---
EFCAB3	146779	broad.mit.edu	37	17	60469293	60469293	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:60469293G>T	ENST00000305286.3	+	4	340	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F	EFCAB3_ENST00000450662.2_Missense_Mutation_p.V140F	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.V88F(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CAAGCATGATGTCTATAATGA	0.353																																						uc002izu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(262-264)GTC>TTC		EF-hand calcium binding domain 3 isoform b							231.0	197.0	209.0					17																	60469293		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60469293G>T	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.262G>T	17.37:g.60469293G>T	ENSP00000302649:p.Val88Phe					EFCAB3_uc010wpc.1_Missense_Mutation_p.V140F	p.V88F	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		4	340	+			88			EF-hand 2.		J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.262G>T	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412769	0.42817	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	6.06	-1.44	0.08856	EF-hand-like domain (1);	0.809934	0.10920	N	0.619617	D	0.84206	0.5421	M	0.87617	2.895	0.26463	N	0.975401	P;D	0.54772	0.934;0.968	P;P	0.55087	0.454;0.768	T	0.73566	-0.3942	10	0.72032	D	0.01	.	1.8535	0.03174	0.3094:0.1274:0.4333:0.1299	.	88;88	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	F	140;88;88;88	ENSP00000403932:V140F;ENSP00000302649:V88F;ENSP00000429124:V88F;ENSP00000428626:V88F	ENSP00000302649:V88F	V	+	1	0	EFCAB3	57823025	0.876000	0.30132	0.902000	0.35471	0.021000	0.10359	0.190000	0.17057	-0.180000	0.10637	0.655000	0.94253	GTC		PASS	0.353	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		29	114	29	114	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78896603	78896603	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr17:78896603A>G	ENST00000306801.3	+	22	2962	c.2600A>G	c.(2599-2601)aAg>aGg	p.K867R	RPTOR_ENST00000544334.2_Missense_Mutation_p.K709R|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	867					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.K867R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCACCAACAAGGGCGTGCAC	0.726																																						uc002jyt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|urinary_tract(1)|ovary(1)	6						c.(2599-2601)AAG>AGG		raptor isoform 1							17.0	14.0	15.0					17																	78896603		2179	4281	6460	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78896603A>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2600A>G	17.37:g.78896603A>G	ENSP00000307272:p.Lys867Arg					RPTOR_uc010wug.1_Missense_Mutation_p.K709R	p.K867R	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			22	3405	+			867					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2600A>G	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597067	0.87055	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.40225	1.04;1.08	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	N	0.21142	0.635	0.80722	D	1	D;B	0.56968	0.978;0.007	D;B	0.69142	0.962;0.002	T	0.25847	-1.0120	10	0.09338	T	0.73	.	14.7628	0.69617	1.0:0.0:0.0:0.0	.	709;867	F5H7J5;Q8N122	.;RPTOR_HUMAN	R	867;709	ENSP00000307272:K867R;ENSP00000442479:K709R	ENSP00000307272:K867R	K	+	2	0	RPTOR	76511198	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	8.443000	0.90320	1.875000	0.54330	0.482000	0.46254	AAG		PASS	0.726	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		2	3	2	3	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9257705	9257706	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr18:9257705_9257706GG>TT	ENST00000262126.4	+	9	4680_4681	c.4440_4441GG>TT	c.(4438-4443)caGGat>caTTat	p.1480_1481QD>HY	ANKRD12_ENST00000383440.2_Missense_Mutation_p.1457_1458QD>HY|ANKRD12_ENST00000400020.3_Missense_Mutation_p.1457_1458QD>HY|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1480						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q1480_D1481>HY(1)|p.Q1480H(1)|p.D1481Y(1)		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						CTTGTGCTCAGGATCCGGCATC	0.416																																						uc002knv.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(4438-4440)CAG>CAT|c.(4441-4443)GAT>TAT		ankyrin repeat domain 12 isoform 1																																				SO:0001583	missense	23253					nucleus		g.chr18:9257705G>T|g.chr18:9257706G>T	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	Exception_encountered	18.37:g.9257705_9257706delinsTT	ENSP00000262126:p.Q1480_D1481delinsHY					ANKRD12_uc002knw.2_Missense_Mutation_p.Q1457H|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1457H|ANKRD12_uc010dkx.1_Missense_Mutation_p.Q1187H|ANKRD12_uc002knw.2_Missense_Mutation_p.D1458Y|ANKRD12_uc002knx.2_Missense_Mutation_p.D1458Y|ANKRD12_uc010dkx.1_Missense_Mutation_p.D1188Y	p.Q1480H|p.D1481Y	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	4697|4698	+			1480|1481					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.4440G>T|c.4441G>T	CCDS11843.1																																																																																				PASS	0.416	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		13|14	79|78	13	78	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28986104	28986104	+	Silent	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr18:28986104G>T	ENST00000308128.4	+	12	1836	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Silent_p.L567L	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	567					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L567L(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCCAATCCTGGTGAAGGACA	0.448																																						uc002kwq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1699-1701)CTG>CTT		desmoglein 4 isoform 2 preproprotein							80.0	79.0	79.0					18																	28986104		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986104G>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1701G>T	18.37:g.28986104G>T						DSG4_uc002kwr.2_Silent_p.L567L	p.L567L	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1836	+			567			Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1701G>T	CCDS11897.1																																																																																				PASS	0.448	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		12	55	12	55	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33263543	33263543	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr18:33263543G>T	ENST00000269195.5	+	4	773	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	GALNT1_ENST00000537549.1_Missense_Mutation_p.A164S	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	224	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A224S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GCCTCTCTTGGCCAGGATCAA	0.423																																						uc010dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(670-672)GCC>TCC		polypeptide N-acetylgalactosaminyltransferase 1							86.0	88.0	87.0					18																	33263543		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33263543G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.670G>T	18.37:g.33263543G>T	ENSP00000269195:p.Ala224Ser					GALNT1_uc002kyz.3_Missense_Mutation_p.A164S|GALNT1_uc002kzb.2_Missense_Mutation_p.A224S	p.A224S	NM_020474	NP_065207	Q10472	GALT1_HUMAN			5	723	+			224			Lumenal (Potential).|Catalytic subdomain A.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.670G>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690039	0.15039	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.60548	0.18;0.18	4.93	4.93	0.64822	Glycosyl transferase, family 2 (1);	0.099210	0.64402	D	0.000002	T	0.45316	0.1336	L	0.31476	0.935	0.58432	D	0.999999	B	0.02656	0.0	B	0.21917	0.037	T	0.33979	-0.9847	10	0.10636	T	0.68	.	16.0025	0.80306	0.0:0.0:1.0:0.0	.	224	Q10472	GALT1_HUMAN	S	224;224;164	ENSP00000269195:A224S;ENSP00000440910:A164S	ENSP00000269195:A224S	A	+	1	0	GALNT1	31517541	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.359000	0.73060	2.418000	0.82041	0.655000	0.94253	GCC		PASS	0.423	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		5	34	5	34	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65178549	65178549	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr18:65178549C>A	ENST00000310045.7	-	2	4800	c.3327G>T	c.(3325-3327)ttG>ttT	p.L1109F	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1099					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.L1109F(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACAAGTGAGACAAGAGGGACA	0.393																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(3325-3327)TTG>TTT		dermatan sulfate epimerase-like							54.0	52.0	53.0					18																	65178549		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178549C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3327G>T	18.37:g.65178549C>A	ENSP00000310565:p.Leu1109Phe						p.L1109F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	4551	-		Esophageal squamous(42;0.129)	1099					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3327G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358820	0.61403	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.81579	-1.51	4.79	2.82	0.32997	Sulfotransferase domain (1);	0.000000	0.52532	U	0.000066	D	0.85682	0.5753	M	0.70275	2.135	0.44852	D	0.997865	D	0.58620	0.983	D	0.63283	0.913	D	0.85781	0.1361	10	0.87932	D	0	-11.2362	9.0787	0.36538	0.0:0.7686:0.1483:0.0831	.	1099	Q8IZU8	DSEL_HUMAN	F	1109;1099	ENSP00000310565:L1109F	ENSP00000310565:L1109F	L	-	3	2	DSEL	63329529	0.996000	0.38824	0.983000	0.44433	0.740000	0.42216	0.489000	0.22387	1.104000	0.41587	0.563000	0.77884	TTG		PASS	0.393	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	34	14	34	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15569435	15569435	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:15569435G>T	ENST00000343625.7	-	7	779	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	232	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.L232M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						AGTGTGGCCAGCGACTCCCTA	0.647																																						uc002nbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(694-696)CTG>ATG		RAS protein activator like 3							29.0	35.0	33.0					19																	15569435		2069	4205	6274	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15569435G>T		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.694C>A	19.37:g.15569435G>T	ENSP00000341905:p.Leu232Met					RASAL3_uc010eaa.1_5'Flank	p.L232M	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			7	780	-			232			PH.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.694C>A	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062706	0.55432	.	.	ENSG00000105122	ENST00000343625	T	0.32272	1.46	4.71	1.39	0.22231	Pleckstrin homology domain (1);	0.000000	0.26948	U	0.021700	T	0.48642	0.1511	M	0.75085	2.285	0.33713	D	0.615966	D	0.76494	0.999	D	0.69307	0.963	T	0.59674	-0.7410	10	0.87932	D	0	.	8.057	0.30610	0.2763:0.0:0.7237:0.0	.	232	Q86YV0	RASL3_HUMAN	M	232	ENSP00000341905:L232M	ENSP00000341905:L232M	L	-	1	2	RASAL3	15430435	0.207000	0.23482	0.986000	0.45419	0.692000	0.40212	0.922000	0.28734	0.091000	0.17302	0.491000	0.48974	CTG		PASS	0.647	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		9	21	9	21	---	---	---	---
SLC27A1	376497	broad.mit.edu	37	19	17608160	17608160	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:17608160G>A	ENST00000252595.7	+	7	1190	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R	SLC27A1_ENST00000442725.1_Missense_Mutation_p.G365R|SLC27A1_ENST00000598424.1_Missense_Mutation_p.G186R|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	365	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G365R(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGTGGGGAACGGGCTGCGTCC	0.662																																						uc002ngu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1093-1095)GGG>AGG		solute carrier family 27, member 1							56.0	46.0	49.0					19																	17608160		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608160G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1093G>A	19.37:g.17608160G>A	ENSP00000252595:p.Gly365Arg					SLC27A1_uc002ngt.1_Missense_Mutation_p.G97R|SLC27A1_uc010xpp.1_Missense_Mutation_p.G186R|SLC27A1_uc002ngv.1_5'UTR	p.G365R	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			7	1143	+			365			Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1093G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452093	0.84209	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.48522	0.81;0.81	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.176781	0.49305	D	0.000141	T	0.74696	0.3750	H	0.97783	4.075	0.80722	D	1	D;D;D	0.61697	0.958;0.99;0.99	P;P;P	0.54401	0.751;0.684;0.751	D	0.85639	0.1275	10	0.87932	D	0	-17.7864	14.8201	0.70065	0.0:0.0:1.0:0.0	.	186;365;365	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	R	365	ENSP00000413424:G365R;ENSP00000252595:G365R	ENSP00000252595:G365R	G	+	1	0	SLC27A1	17469160	1.000000	0.71417	0.984000	0.44739	0.575000	0.36095	9.129000	0.94430	2.136000	0.66102	0.456000	0.33151	GGG		PASS	0.662	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		6	25	6	25	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20829130	20829130	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:20829130A>G	ENST00000601440.1	-	2	231	c.85T>C	c.(85-87)Tat>Cat	p.Y29H	ZNF626_ENST00000291750.6_Missense_Mutation_p.Y29H|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	29	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.Y29H(2)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACATTCCTATATAAATTCCGC	0.383																																						uc002npb.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(85-87)TAT>CAT		zinc finger protein 626 isoform 1							106.0	110.0	108.0					19																	20829130		2203	4300	6503	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20829130A>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.85T>C	19.37:g.20829130A>G	ENSP00000469958:p.Tyr29His					ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.Y29H	p.Y29H	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			2	235	-			29			KRAB.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.85T>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	a	10.73	1.431386	0.25813	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.07908	3.15	1.02	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.31670	0.0804	M	0.93978	3.48	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.08186	-1.0734	9	0.87932	D	0	.	4.1169	0.10086	1.0:0.0:0.0:0.0	.	29;29	Q96QM1;Q68DY1	.;ZN626_HUMAN	H	29	ENSP00000291750:Y29H	ENSP00000291750:Y29H	Y	-	1	0	ZNF626	20620970	0.031000	0.19500	0.012000	0.15200	0.011000	0.07611	1.832000	0.39151	0.372000	0.24591	0.363000	0.22086	TAT		PASS	0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		39	92	39	92	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039987	31039987	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:31039987G>T	ENST00000355537.3	+	4	3608	c.3461G>T	c.(3460-3462)aGt>aTt	p.S1154I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1154					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S1154I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAACCACGAGTAAGAACACT	0.547																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3460-3462)AGT>ATT		zinc finger protein 536							68.0	66.0	67.0					19																	31039987		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039987G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3461G>T	19.37:g.31039987G>T	ENSP00000347730:p.Ser1154Ile					ZNF536_uc010edd.1_Missense_Mutation_p.S1154I	p.S1154I	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3599	+	Esophageal squamous(110;0.0834)		1154					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3461G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	5.701	0.313827	0.10789	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.59	2.13	0.27403	.	0.823038	0.11542	N	0.553601	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.13407	0.009;0.009	T	0.40924	-0.9537	10	0.87932	D	0	-7.2332	5.6547	0.17637	0.7258:0.1386:0.1356:0.0	.	1154;1154	A7E228;O15090	.;ZN536_HUMAN	I	1154	ENSP00000347730:S1154I	ENSP00000347730:S1154I	S	+	2	0	ZNF536	35731827	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.234000	0.09028	0.052000	0.16007	0.655000	0.94253	AGT		PASS	0.547	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	53	19	53	---	---	---	---
ZFP14	57677	broad.mit.edu	37	19	36853129	36853129	+	Silent	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:36853129T>A	ENST00000270001.7	-	3	136	c.21A>T	c.(19-21)acA>acT	p.T7T	ZFP14_ENST00000589280.1_Silent_p.T7T	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	7	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T7T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATCCCTGAATGTCACTGAAC	0.403																																						uc002odx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(19-21)ACA>ACT		zinc finger protein 14-like							86.0	82.0	83.0					19																	36853129		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36853129T>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.21A>T	19.37:g.36853129T>A						ZFP14_uc010xtd.1_Silent_p.T7T|ZFP14_uc010eex.1_Silent_p.T7T	p.T7T	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			2	114	-	Esophageal squamous(110;0.162)		7			KRAB.		A7MD23	Silent	SNP	ENST00000270001.7	37	c.21A>T	CCDS33002.1																																																																																				PASS	0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		14	53	14	53	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38959968	38959968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:38959968G>T	ENST00000359596.3	+	27	3580	c.3580G>T	c.(3580-3582)Gga>Tga	p.G1194*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.G1194*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.G1194*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1194	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1194*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGCAGCTTGGGACCTGGCCA	0.642																																						uc002oit.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3580-3582)GGA>TGA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						75.0	74.0	74.0					19																	38959968		2203	4300	6503	SO:0001587	stop_gained	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959968G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3580G>T	19.37:g.38959968G>T	ENSP00000352608:p.Gly1194*					RYR1_uc002oiu.2_Nonsense_Mutation_p.G1194*	p.G1194*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	3710	+	all_cancers(60;7.91e-06)		1194			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	ENST00000359596.3	37	c.3580G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	44	10.808943	0.99470	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	3.63	3.63	0.41609	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1827	0.72972	0.0:0.0:1.0:0.0	.	.	.	.	X	1194	.	ENSP00000347667:G1194X	G	+	1	0	RYR1	43651808	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.244000	0.72391	1.900000	0.55004	0.434000	0.28630	GGA		PASS	0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	72	13	72	---	---	---	---
ADCK4	79934	broad.mit.edu	37	19	41201934	41201934	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:41201934C>A	ENST00000324464.3	-	13	1470	c.1169G>T	c.(1168-1170)aGc>aTc	p.S390I	ADCK4_ENST00000450541.1_Missense_Mutation_p.S349I|ADCK4_ENST00000243583.6_Missense_Mutation_p.S349I	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	390	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.S390I(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AAACTCCCGGCTTGCACCAAA	0.557																																						uc002oor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1168-1170)AGC>ATC		aarF domain containing kinase 4 isoform a							138.0	128.0	132.0					19																	41201934		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41201934C>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1169G>T	19.37:g.41201934C>A	ENSP00000315118:p.Ser390Ile					ADCK4_uc002oop.1_Missense_Mutation_p.S67I|ADCK4_uc002ooq.1_Missense_Mutation_p.S349I	p.S390I	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		13	1471	-			390			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1169G>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957419	0.73902	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.55234	0.53;0.53;0.53	4.78	4.78	0.61160	Protein kinase-like domain (1);	0.043313	0.85682	D	0.000000	T	0.57621	0.2066	L	0.41356	1.27	0.47407	D	0.999412	D;P	0.59357	0.985;0.611	P;P	0.57009	0.811;0.593	T	0.60910	-0.7169	10	0.87932	D	0	-21.4963	12.5936	0.56456	0.0:0.8323:0.1677:0.0	.	390;349	Q96D53;Q96D53-2	ADCK4_HUMAN;.	I	390;349;349	ENSP00000315118:S390I;ENSP00000412839:S349I;ENSP00000243583:S349I	ENSP00000243583:S349I	S	-	2	0	ADCK4	45893774	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.859000	0.48364	2.489000	0.83994	0.561000	0.74099	AGC		PASS	0.557	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		29	121	29	121	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42847671	42847671	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:42847671C>T	ENST00000251268.6	+	9	1556	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	MEGF8_ENST00000334370.4_Missense_Mutation_p.A519V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	519					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.A519V(2)|p.A60V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CATGTAGCTGCGGTGCTTGGT	0.632																																						uc002otl.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1555-1557)GCG>GTG		multiple EGF-like-domains 8							60.0	53.0	55.0					19																	42847671		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42847671C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1556C>T	19.37:g.42847671C>T	ENSP00000251268:p.Ala519Val					MEGF8_uc002otm.3_Missense_Mutation_p.A60V	p.A519V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			9	2191	+		Prostate(69;0.00682)	519			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1556C>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.151458	0.78001	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.41673	0.1169	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.981	T	0.07404	-1.0774	10	0.27082	T	0.32	-9.8723	16.0318	0.80582	0.0:1.0:0.0:0.0	.	519;519	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	519	ENSP00000334219:A519V;ENSP00000251268:A519V	ENSP00000251268:A519V	A	+	2	0	MEGF8	47539511	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.727000	0.74764	2.386000	0.81285	0.486000	0.48141	GCG		PASS	0.632	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		6	52	6	52	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43763083	43763083	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:43763083G>T	ENST00000270077.3	-	4	1010	c.914C>A	c.(913-915)aCa>aAa	p.T305K	PSG9_ENST00000443718.3_Missense_Mutation_p.T212K|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.T212K	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	305	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T305K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATAGGGTCCTGTTTCATTTCT	0.498																																						uc002owd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(913-915)ACA>AAA		pregnancy specific beta-1-glycoprotein 9							132.0	139.0	137.0					19																	43763083		2142	4281	6423	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43763083G>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.914C>A	19.37:g.43763083G>T	ENSP00000270077:p.Thr305Lys					PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Missense_Mutation_p.T212K|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.T305K	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	1013	-		Prostate(69;0.00682)	305			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.914C>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	10.03	1.239487	0.22711	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.11712	2.75;2.75	1.39	-0.136	0.13473	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15652	0.0377	L	0.41124	1.26	0.21416	N	0.999691	B;P	0.45986	0.359;0.87	P;P	0.57371	0.457;0.819	T	0.19128	-1.0315	9	0.87932	D	0	.	3.9861	0.09516	0.0:0.0:0.5878:0.4122	.	212;305	E7EW65;Q00887	.;PSG9_HUMAN	K	305;212;266	ENSP00000270077:T305K;ENSP00000396753:T212K	ENSP00000270077:T305K	T	-	2	0	PSG9	48454923	0.043000	0.20138	0.768000	0.31515	0.033000	0.12548	-0.322000	0.08007	0.742000	0.32697	0.194000	0.17425	ACA		PASS	0.498	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		67	188	67	188	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44097332	44097332	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:44097332C>T	ENST00000602269.1	-	2	903	c.718G>A	c.(718-720)Gac>Aac	p.D240N	L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000422989.1_Missense_Mutation_p.D240N|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	240	IRG-type G.							p.D240N(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGCAGCATGTCCACCACAAGG	0.687																																						uc002oww.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(718-720)GAC>AAC		immunity-related GTPase family, Q							39.0	44.0	43.0					19																	44097332		2202	4297	6499	SO:0001583	missense	126298						protein binding	g.chr19:44097332C>T	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.718G>A	19.37:g.44097332C>T	ENSP00000472250:p.Asp240Asn					IRGQ_uc010eiv.2_Missense_Mutation_p.D240N	p.D240N	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	836	-		Prostate(69;0.0199)	240					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.718G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.945912	0.00475	.	.	ENSG00000167378	ENST00000422989	T	0.29917	1.55	4.5	-4.27	0.03744	.	0.568348	0.16939	N	0.193357	T	0.08358	0.0208	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.35425	-0.9789	10	0.02654	T	1	-11.7637	12.1974	0.54305	0.0:0.251:0.0:0.749	.	240	Q8WZA9	IRGQ_HUMAN	N	240	ENSP00000387535:D240N	ENSP00000387535:D240N	D	-	1	0	IRGQ	48789172	0.004000	0.15560	0.002000	0.10522	0.047000	0.14425	-1.317000	0.02707	-0.686000	0.05170	-0.345000	0.07892	GAC		PASS	0.687	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		14	64	14	64	---	---	---	---
NUP62	23636	broad.mit.edu	37	19	50413004	50413004	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:50413004C>A	ENST00000596217.1	-	2	1948	c.61G>T	c.(61-63)Gca>Tca	p.A21S	NUP62_ENST00000597029.1_Missense_Mutation_p.A21S|NUP62_ENST00000413454.1_Missense_Mutation_p.A21S|NUP62_ENST00000600583.1_5'UTR|CTC-326K19.6_ENST00000451973.1_3'UTR|IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A21S|NUP62_ENST00000352066.3_Missense_Mutation_p.A21S|NUP62_ENST00000597723.1_Missense_Mutation_p.A21S			P37198	NUP62_HUMAN	nucleoporin 62kDa	21	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.A21S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCCGTCTTTGCAGTGCCAAAC	0.567																																						uc002pqx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)GCA>TCA		nucleoporin 62kDa							42.0	48.0	46.0					19																	50413004		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50413004C>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.61G>T	19.37:g.50413004C>A	ENSP00000471191:p.Ala21Ser					IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.A21S|NUP62_uc002pqz.2_Missense_Mutation_p.A21S|NUP62_uc002pra.2_Missense_Mutation_p.A21S|NUP62_uc002prb.2_Missense_Mutation_p.A21S|NUP62_uc002prc.2_Missense_Mutation_p.A21S	p.A21S	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	165	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	21			15 X 9 AA approximate repeats.|2.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.61G>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285239	0.40394	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37752	1.18;1.18;1.18	5.09	-2.93	0.05598	Nucleoporin, NSP1-like, C-terminal (1);	0.280598	0.26792	U	0.022467	T	0.21921	0.0528	L	0.45352	1.415	0.80722	D	1	B;B	0.21071	0.047;0.051	B;B	0.16289	0.015;0.007	T	0.02070	-1.1219	10	0.44086	T	0.13	-4.9335	4.4435	0.11586	0.2436:0.479:0.0:0.2774	.	21;21	Q8WYU3;P37198	.;NUP62_HUMAN	S	21	ENSP00000305503:A21S;ENSP00000407331:A21S;ENSP00000387991:A21S	ENSP00000321866:A21S	A	-	1	0	NUP62	55104816	0.079000	0.21365	0.043000	0.18650	0.796000	0.44982	0.118000	0.15605	-0.400000	0.07656	0.655000	0.94253	GCA		PASS	0.567	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		14	60	14	60	---	---	---	---
KCNC3	3748	broad.mit.edu	37	19	50824011	50824011	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:50824011G>T	ENST00000477616.1	-	3	2303	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	KCNC3_ENST00000474951.1_De_novo_Start_OutOfFrame|KCNC3_ENST00000391818.2_Missense_Mutation_p.L7M|KCNC3_ENST00000376959.2_Missense_Mutation_p.A670D	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	670	Poly-Ala.				cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A670D(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGCAAGCGCAGCTGCTGCCGG	0.642																																					Melanoma(91;1496 2324 50908)	uc002pru.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2008-2010)GCT>GAT		Shaw-related voltage-gated potassium channel							40.0	39.0	39.0					19																	50824011		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50824011G>T	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2009C>A	19.37:g.50824011G>T	ENSP00000434241:p.Ala670Asp					KCNC3_uc002prt.1_Missense_Mutation_p.A306D	p.A670D	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	3	2304	-		all_neural(266;0.057)|Ovarian(192;0.208)	670			Cytoplasmic (Potential).|Poly-Ala.			Missense_Mutation	SNP	ENST00000477616.1	37	c.2009C>A	CCDS12793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.766189|3.766189	0.69878|0.69878	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843|ENST00000391818	D;D|.	0.98876|.	-5.08;-5.2|.	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|.	.|.	.|.	.|.	T|T	0.42449|0.42449	0.1203|0.1203	L|L	0.39245|0.39245	1.2|1.2	0.25881|0.25881	N|N	0.983591|0.983591	D;D|.	0.71674|.	0.998;0.994|.	D;P|.	0.77557|.	0.99;0.908|.	T|T	0.38714|0.38714	-0.9648|-0.9648	9|6	0.87932|0.87932	D|D	0|0	.|.	11.2081|11.2081	0.48782|0.48782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	670;670|.	Q14003;E7ETH1|.	KCNC3_HUMAN;.|.	D|M	670;670;484|7	ENSP00000366158:A670D;ENSP00000434241:A670D|.	ENSP00000366158:A670D|ENSP00000375694:L7M	A|L	-|-	2|1	0|2	KCNC3|KCNC3	55515823|55515823	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.818000|0.818000	0.46254|0.46254	8.113000|8.113000	0.89568|0.89568	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	GCT|CTG		PASS	0.642	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		4	50	4	50	---	---	---	---
CEACAM18	729767	broad.mit.edu	37	19	51983848	51983848	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:51983848C>A	ENST00000396477.4	+	2	335	c.314C>A	c.(313-315)aCt>aAt	p.T105N	CEACAM18_ENST00000451626.1_Missense_Mutation_p.T166N	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	105								p.T166N(1)|p.T105N(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCAGGCCGACTGCATTAAAT	0.557																																						uc002pwv.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(496-498)ACT>AAT		carcinoembryonic antigen-related cell adhesion							89.0	88.0	88.0					19																	51983848		1984	4165	6149	SO:0001583	missense	729767					integral to membrane		g.chr19:51983848C>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.314C>A	19.37:g.51983848C>A	ENSP00000379738:p.Thr105Asn						p.T166N	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	497	+		all_neural(266;0.0529)	166					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.497C>A		.	.	.	.	.	.	.	.	.	.	.	12.02	1.811529	0.32053	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.65916	-0.18	2.92	-2.35	0.06684	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60170	0.2248	L	0.43152	1.355	0.09310	N	1	P	0.39717	0.684	P	0.50270	0.636	T	0.58154	-0.7686	9	0.87932	D	0	-1.1729	6.6644	0.23032	0.0:0.3292:0.5507:0.12	.	166	A8MTB9	CEA18_HUMAN	N	166;105;105	ENSP00000402203:T166N	ENSP00000379738:T105N	T	+	2	0	CEACAM18	56675660	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.294000	0.19047	-0.301000	0.08882	-0.971000	0.02607	ACT		PASS	0.557	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			19	64	19	64	---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52131184	52131184	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:52131184C>G	ENST00000534261.2	-	6	1299	c.900G>C	c.(898-900)gaG>gaC	p.E300D	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.E300D|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.E300D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.E300D|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.E300D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	300	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E300D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCGACGAAGCTCCAAGATCC	0.582																																						uc002pxe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|central_nervous_system(1)	4						c.(898-900)GAG>GAC		sialic acid binding Ig-like lectin 5 precursor							58.0	64.0	62.0					19																	52131184		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52131184C>G	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.900G>C	19.37:g.52131184C>G	ENSP00000473238:p.Glu300Asp						p.E300D	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	5	1039	-		all_neural(266;0.0726)	300			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000534261.2	37	c.900G>C	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627613	0.28978	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.12255	2.7;2.7	3.82	1.4	0.22301	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.151358	0.30365	N	0.009799	T	0.13030	0.0316	L	0.41124	1.26	0.20764	N	0.999852	B	0.32467	0.372	B	0.41988	0.372	T	0.14282	-1.0478	10	0.39692	T	0.17	.	5.9769	0.19385	0.2208:0.5648:0.2144:0.0	.	300	O15389	SIGL5_HUMAN	D	300	ENSP00000222107:E300D;ENSP00000415200:E300D	ENSP00000222107:E300D	E	-	3	2	SIGLEC5	56822996	0.115000	0.22152	0.557000	0.28306	0.043000	0.13939	-0.133000	0.10451	0.912000	0.36772	0.563000	0.77884	GAG		PASS	0.582	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		25	89	25	89	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56244704	56244704	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:56244704C>T	ENST00000332836.2	-	2	520	c.493G>A	c.(493-495)Gtg>Atg	p.V165M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	165	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V165M(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCCAACATCACTTTTCTTAAA	0.438																																						uc002qly.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|breast(1)	7						c.(493-495)GTG>ATG		NLR family, pyrin domain containing 9							72.0	65.0	67.0					19																	56244704		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244704C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.493G>A	19.37:g.56244704C>T	ENSP00000331857:p.Val165Met						p.V165M	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	521	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	165			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.493G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693058	0.48202	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.79247	-1.25	2.63	0.308	0.15815	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.74298	0.3698	L	0.43646	1.37	0.09310	N	1	P	0.46859	0.885	P	0.52031	0.688	T	0.62277	-0.6888	9	0.45353	T	0.12	.	5.2969	0.15756	0.4086:0.3911:0.2004:0.0	.	165	Q7RTR0	NALP9_HUMAN	M	165	ENSP00000331857:V165M	ENSP00000331857:V165M	V	-	1	0	NLRP9	60936516	0.001000	0.12720	0.001000	0.08648	0.607000	0.37147	-0.887000	0.04152	0.178000	0.19917	0.644000	0.83932	GTG		PASS	0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		22	61	22	61	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327108	57327108	+	Missense_Mutation	SNP	C	C	T	rs560114002	byFrequency	TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr19:57327108C>T	ENST00000326441.9	-	10	3065	c.2702G>A	c.(2701-2703)cGt>cAt	p.R901H	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R777H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R775H|PEG3_ENST00000423103.2_Missense_Mutation_p.R901H|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	901					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R901H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGTTTGGCACGGAATACACT	0.463													C|||	3	0.000599042	0.0008	0.0	5008	,	,		20476	0.0		0.0	False		,,,				2504	0.002					uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2701-2703)CGT>CAT		paternally expressed 3 isoform 1							103.0	102.0	102.0					19																	57327108		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327108C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2702G>A	19.37:g.57327108C>T	ENSP00000326581:p.Arg901His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R872H|PEG3_uc002qnv.2_Missense_Mutation_p.R901H|PEG3_uc002qnw.2_Missense_Mutation_p.R777H|PEG3_uc002qnx.2_Missense_Mutation_p.R775H|PEG3_uc010etr.2_Missense_Mutation_p.R901H	p.R901H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3053	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	901					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2702G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	8.127	0.782324	0.16189	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	3.76	-5.4	0.02656	.	1.397010	0.04593	N	0.397194	T	0.01287	0.0042	N	0.01771	-0.73	.	.	.	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.49707	-0.8911	9	0.18710	T	0.47	-0.8129	9.1431	0.36917	0.0:0.6006:0.1492:0.2502	.	777;901;836	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	901	ENSP00000326581:R901H;ENSP00000403051:R901H	ENSP00000326581:R901H	R	-	2	0	ZIM2	62018920	0.003000	0.15002	0.000000	0.03702	0.518000	0.34316	-0.504000	0.06375	-1.415000	0.02022	-0.312000	0.09012	CGT		PASS	0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			27	119	27	119	---	---	---	---
ENTPD6	955	broad.mit.edu	37	20	25203568	25203568	+	Silent	SNP	T	T	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr20:25203568T>C	ENST00000376652.4	+	12	1303	c.1140T>C	c.(1138-1140)taT>taC	p.Y380Y	ENTPD6_ENST00000433259.2_Silent_p.Y346Y|ENTPD6_ENST00000360031.2_Silent_p.Y379Y|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Silent_p.Y363Y			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	380					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.Y380Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGGACTTCTATGCTTTCTCCT	0.612																																						uc002wuj.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)TAT>TAC		ectonucleoside triphosphate diphosphohydrolase 6							184.0	159.0	167.0					20																	25203568		2203	4300	6503	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25203568T>C	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1140T>C	20.37:g.25203568T>C						ENTPD6_uc010zsz.1_Silent_p.Y162Y|ENTPD6_uc002wum.2_Silent_p.Y363Y|ENTPD6_uc010zta.1_Silent_p.Y380Y|ENTPD6_uc002wun.2_Silent_p.Y346Y|ENTPD6_uc002wuk.2_Silent_p.Y379Y|ENTPD6_uc002wul.2_Silent_p.Y379Y|ENTPD6_uc010ztb.1_Silent_p.Y352Y|ENTPD6_uc010ztc.1_Silent_p.Y352Y|ENTPD6_uc002wuo.2_Silent_p.Y132Y|ENTPD6_uc010ztd.1_Silent_p.Y128Y|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA	p.Y380Y	NM_001247	NP_001238	O75354	ENTP6_HUMAN			12	1320	+			380			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.1140T>C	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.059|6.059	0.379143|0.379143	0.11466|0.11466	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000447877	.|.	.|.	.|.	5.67|5.67	0.698|0.698	0.18087|0.18087	.|.	.|.	.|.	.|.	.|.	T|T	0.51652|0.51652	0.1687|0.1687	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35176|0.35176	-0.9799|-0.9799	4|4	.|.	.|.	.|.	-14.0358|-14.0358	5.9337|5.9337	0.19152|0.19152	0.0:0.287:0.129:0.5841|0.0:0.287:0.129:0.5841	.|.	.|.	.|.	.|.	R|T	204|301;239	.|.	.|.	C|M	+|+	1|2	0|0	ENTPD6|ENTPD6	25151568|25151568	0.958000|0.958000	0.32768|0.32768	0.283000|0.283000	0.24790|0.24790	0.682000|0.682000	0.39822|0.39822	-0.051000|-0.051000	0.11885|0.11885	-0.142000|-0.142000	0.11354|0.11354	-0.464000|-0.464000	0.05259|0.05259	TGC|ATG		PASS	0.612	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			54	94	54	94	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						uc002xav.2																			15	Substitution - coding silent(15)		lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(805-807)CAG>CAA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	p.Q269Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3378	-			269			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				PASS	0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	59	4	59	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34207663	34207663	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr20:34207663G>T	ENST00000374273.3	+	10	1184	c.1072G>T	c.(1072-1074)Gtc>Ttc	p.V358F		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	358	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.V358F(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CGATTTCGCGGTCTTTGTGAG	0.617																																						uc002xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)GTC>TTC		sperm associated antigen 4							31.0	34.0	33.0					20																	34207663		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34207663G>T	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1072G>T	20.37:g.34207663G>T	ENSP00000363391:p.Val358Phe					SPAG4_uc010zvi.1_Missense_Mutation_p.V281F	p.V358F	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		10	1189	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		358			SUN.		O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.1072G>T	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464217	0.84425	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.56444	0.46;0.46	4.66	4.66	0.58398	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.81802	2.56	0.52501	D	0.999957	D	0.89917	1.0	D	0.81914	0.995	T	0.76310	-0.3006	10	0.87932	D	0	-19.9174	12.919	0.58222	0.0:0.0:1.0:0.0	.	358	Q9NPE6	SPAG4_HUMAN	F	358;53	ENSP00000363391:V358F;ENSP00000399231:V53F	ENSP00000363391:V358F	V	+	1	0	SPAG4	33671077	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.476000	0.60216	2.403000	0.81681	0.561000	0.74099	GTC		PASS	0.617	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		3	49	3	49	---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50781293	50781293	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr20:50781293C>A	ENST00000216923.4	-	4	801	c.452G>T	c.(451-453)tGc>tTc	p.C151F	ZFP64_ENST00000371515.4_Missense_Mutation_p.C149F|ZFP64_ENST00000371518.2_Missense_Mutation_p.C151F|ZFP64_ENST00000346617.4_Missense_Mutation_p.C97F|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.C151F	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	151					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.C151F(3)|p.C151Y(3)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGAATTGGCAACCTAAAAA	0.378																																						uc002xwl.2																			6	Substitution - Missense(6)		lung(6)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(451-453)TGC>TTC		zinc finger protein 64 isoform a							87.0	80.0	83.0					20																	50781293		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50781293C>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.452G>T	20.37:g.50781293C>A	ENSP00000216923:p.Cys151Phe					ZFP64_uc002xwk.2_Missense_Mutation_p.C151F|ZFP64_uc002xwm.2_Missense_Mutation_p.C149F|ZFP64_uc002xwn.2_Missense_Mutation_p.C97F	p.C151F	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			4	801	-			151					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.452G>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522946	0.85600	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000371516	T;T;T;T;T	0.14022	2.69;2.74;2.54;2.8;2.54	5.49	5.49	0.81192	Zinc finger, C2H2-like (2);	0.000000	0.64402	D	0.000009	T	0.39226	0.1070	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.996;0.996;0.994	T	0.06552	-1.0820	10	0.66056	D	0.02	-18.6081	19.7347	0.96198	0.0:1.0:0.0:0.0	.	97;149;151;151	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	F	151;151;151;97;149;304	ENSP00000360573:C151F;ENSP00000355179:C151F;ENSP00000216923:C151F;ENSP00000344615:C97F;ENSP00000360570:C149F	ENSP00000216923:C151F	C	-	2	0	ZFP64	50214700	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.281000	0.78621	2.746000	0.94184	0.655000	0.94253	TGC		PASS	0.378	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		13	48	13	48	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61944518	61944518	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr20:61944518G>C	ENST00000358894.6	+	17	2226	c.2126G>C	c.(2125-2127)aGg>aCg	p.R709T	COL20A1_ENST00000422202.1_Missense_Mutation_p.R716T|COL20A1_ENST00000326996.6_Missense_Mutation_p.R709T|COL20A1_ENST00000435874.1_Missense_Mutation_p.R716T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	709	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.R709T(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCCTAGGGAGGCACACAGAG	0.657																																						uc011aau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2125-2127)AGG>ACG		collagen, type XX, alpha 1							44.0	49.0	47.0					20																	61944518		1992	4142	6134	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61944518G>C	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2126G>C	20.37:g.61944518G>C	ENSP00000351767:p.Arg709Thr					COL20A1_uc011aav.1_Missense_Mutation_p.R530T	p.R709T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			17	2226	+	all_cancers(38;1.39e-10)		709			Fibronectin type-III 5.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2126G>C	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	7.166	0.586603	0.13749	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.85	-2.12	0.07165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.443285	0.23648	U	0.045960	T	0.32763	0.0840	N	0.22421	0.69	0.09310	N	1	B;B	0.32573	0.325;0.376	B;B	0.33960	0.108;0.173	T	0.25082	-1.0142	10	0.54805	T	0.06	.	8.3395	0.32235	0.7216:0.0:0.2784:0.0	.	716;709	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	709;709;716;716	ENSP00000351767:R709T;ENSP00000323077:R709T;ENSP00000408690:R716T;ENSP00000414753:R716T	ENSP00000323077:R709T	R	+	2	0	COL20A1	61414963	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.046000	0.11983	-0.189000	0.10482	0.306000	0.20318	AGG		PASS	0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		8	31	8	31	---	---	---	---
KRTAP11-1	337880	broad.mit.edu	37	21	32253437	32253437	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr21:32253437C>A	ENST00000332378.4	-	1	437	c.407G>T	c.(406-408)gGa>gTa	p.G136V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	136	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G136V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTAGAGACTCCTCCCACTGG	0.597																																						uc002yov.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(406-408)GGA>GTA		keratin associated protein 11-1							57.0	59.0	58.0					21																	32253437		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253437C>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.407G>T	21.37:g.32253437C>A	ENSP00000330720:p.Gly136Val						p.G136V	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			1	438	-			136			3.|4 X 10 AA approximate repeats.		A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.407G>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231668	0.09969	.	.	ENSG00000182591	ENST00000332378	T	0.03004	4.08	4.04	4.04	0.47022	.	0.315385	0.29080	N	0.013203	T	0.07908	0.0198	N	0.25144	0.715	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.30937	-0.9961	10	0.44086	T	0.13	-5.6342	10.2249	0.43220	0.0:0.7983:0.2017:0.0	.	136	Q8IUC1	KR111_HUMAN	V	136	ENSP00000330720:G136V	ENSP00000330720:G136V	G	-	2	0	KRTAP11-1	31175308	0.990000	0.36364	0.971000	0.41717	0.805000	0.45488	2.481000	0.45215	2.581000	0.87130	0.577000	0.79330	GGA		PASS	0.597	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			13	68	13	68	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43164076	43164076	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr21:43164076C>A	ENST00000352483.2	-	8	1369	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	RIPK4_ENST00000332512.3_Silent_p.L387L|RIPK4_ENST00000544709.1_Silent_p.L324L|RIPK4_ENST00000542057.1_Silent_p.L324L|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	435					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L387L(1)|p.L435L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGACAGCGACAGTGATCCTC	0.632																																						uc002yzn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1159-1161)CTG>CTT		ankyrin repeat domain 3							78.0	69.0	72.0					21																	43164076		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43164076C>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1305G>T	21.37:g.43164076C>A							p.L387L	NM_020639	NP_065690	P57078	RIPK4_HUMAN			7	1209	-			387					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1161G>T																																																																																					PASS	0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		16	54	16	54	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17073086	17073086	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:17073086C>A	ENST00000359963.3	-	1	614	c.355G>T	c.(355-357)Gca>Tca	p.A119S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	119					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.A119S(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)				AGCTGCTCTGCCTGTTCCAGC	0.657																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)GCA>TCA		T-complex protein 1							55.0	45.0	48.0					22																	17073086		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073086C>A	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.355G>T	22.37:g.17073086C>A	ENSP00000353048:p.Ala119Ser						p.A119S	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	615	-	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)	119					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.355G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.15	1.270119	0.23221	.	.	ENSG00000198445	ENST00000359963	T	0.79749	-1.3	2.0	0.924	0.19418	.	0.000000	0.34580	U	0.003846	D	0.85353	0.5677	M	0.76838	2.35	0.09310	N	0.999998	D	0.69078	0.997	D	0.70227	0.968	T	0.74191	-0.3745	10	0.54805	T	0.06	-13.4525	4.6564	0.12620	0.0:0.7975:0.0:0.2025	.	119	Q96SF2	TCPQM_HUMAN	S	119	ENSP00000353048:A119S	ENSP00000353048:A119S	A	-	1	0	CCT8L2	15453086	0.124000	0.22315	0.047000	0.18901	0.152000	0.21847	1.471000	0.35365	0.188000	0.20168	0.393000	0.25936	GCA		PASS	0.657	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			12	33	12	33	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17669238	17669239	+	Missense_Mutation	DNP	CG	CG	GA	rs45511697|rs144447953		TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:17669238_17669239CG>GA	ENST00000399839.1	-	7	1341_1342	c.1071_1072CG>TC	c.(1069-1074)gcCGga>gcTCga	p.G358R	CECR1_ENST00000262607.3_Missense_Mutation_p.G358R|CECR1_ENST00000449907.2_Missense_Mutation_p.G316R|CECR1_ENST00000399837.2_Missense_Mutation_p.G358R|CECR1_ENST00000480276.1_5'Flank|CECR1_ENST00000330232.4_Missense_Mutation_p.G117R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	358					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.G358R(2)|p.G117R(2)|p.A357A(1)|p.A116A(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCTGTTTCTCCGGCGTGGAAGA	0.599																																						uc002zmk.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(1072-1074)GGA>CGA|c.(1069-1071)GCC>GCT		cat eye syndrome critical region protein 1																																				SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17669238C>G|g.chr22:17669239G>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1071_1072delinsGA	22.37:g.17669238_17669239delinsGA	ENSP00000382733:p.Gly358Arg					CECR1_uc010gqu.1_Missense_Mutation_p.G358R|CECR1_uc011agi.1_Missense_Mutation_p.G316R|CECR1_uc002zmj.1_Missense_Mutation_p.G117R|CECR1_uc010gqu.1_Silent_p.A357A|CECR1_uc011agi.1_Silent_p.A315A|CECR1_uc002zmj.1_Silent_p.A116A	p.G358R|p.A357A	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN			6	1284|1283	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	358|357					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation|Silent	SNP	ENST00000399839.1	37	c.1072G>C|c.1071C>T	CCDS13742.1																																																																																				PASS	0.599	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			12	79	12	79	---	---	---	---
LINC00207	388910	broad.mit.edu	37	22	44966431	44966431	+	lincRNA	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:44966431T>A	ENST00000605505.1	+	0	209					NR_028409.1				long intergenic non-protein coding RNA 207									p.S30T(2)		lung(3)	3						TGGGATCCAATCACTGAACCA	0.488																																						uc003bev.1																			2	Substitution - Missense(2)		lung(2)		0						c.(88-90)TCA>ACA		SubName: Full=Novel gene;							65.0	63.0	64.0					22																	44966431		2057	4197	6254			388910							g.chr22:44966431T>A	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44966431T>A						NCRNA00207_uc011aqg.1_RNA|NCRNA00207_uc011aqh.1_RNA	p.S30T	NM_001012986	NP_001013004					2	155	+									Missense_Mutation	SNP	ENST00000605505.1	37	c.88T>A		.	.	.	.	.	.	.	.	.	.	T	4.457	0.084625	0.08583	.	.	ENSG00000187012	ENST00000334566	.	.	.	1.82	0.733	0.18289	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.09310	N	1	D	0.58620	0.983	P	0.60609	0.877	T	0.37361	-0.9709	7	0.87932	D	0	.	4.7459	0.13036	0.0:0.0:0.3305:0.6695	.	30	Q5JZ73	.	T	30	.	ENSP00000334101:S30T	S	+	1	0	NCRNA00207	43345095	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.359000	0.07632	0.172000	0.19760	0.533000	0.62120	TCA		PASS	0.488	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409		7	23	7	23	---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45133072	45133072	+	Missense_Mutation	SNP	G	G	T	rs539841031	byFrequency	TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:45133072G>T	ENST00000336985.6	+	8	1389	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_Missense_Mutation_p.R362L|PRR5_ENST00000403581.1_Missense_Mutation_p.R394L	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	371					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)		p.R371L(1)|p.R394L(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GGCCGGGGCCGGGGCTCTGGC	0.622																																						uc003bfb.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1111-1113)CGG>CTG		proline rich 5 (renal) isoform 1							32.0	39.0	37.0					22																	45133072		2202	4296	6498	SO:0001583	missense	55615				cell cycle			g.chr22:45133072G>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.1112G>T	22.37:g.45133072G>T	ENSP00000337464:p.Arg371Leu					PRR5_uc003bew.1_Missense_Mutation_p.R362L|PRR5_uc003bex.1_Missense_Mutation_p.R276L|PRR5_uc010gzt.1_Missense_Mutation_p.R394L|PRR5_uc010gzu.1_Missense_Mutation_p.R335L|PRR5_uc003bey.1_Missense_Mutation_p.R362L|PRR5_uc003bez.1_Missense_Mutation_p.R276L|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R264L|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R270L	p.R371L	NM_181333	NP_851850	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1384	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	371					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.1112G>T	CCDS14058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.779778|2.779778	0.49891|0.49891	.|.	.|.	ENSG00000186654|ENSG00000186654	ENST00000455389|ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	.|T;T;T	.|0.32023	.|1.49;1.47;1.49	5.82|5.82	4.8|4.8	0.61643|0.61643	.|.	.|.	.|.	.|.	.|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B;B;B;B	.|0.28350	.|0.039;0.208;0.15;0.049;0.049	.|B;B;B;B;B	.|0.23716	.|0.028;0.048;0.04;0.044;0.044	T|T	0.08006|0.08006	-1.0743|-1.0743	5|8	.|.	.|.	.|.	.|.	14.2924|14.2924	0.66289|0.66289	0.0718:0.0:0.9282:0.0|0.0718:0.0:0.9282:0.0	.|.	.|335;394;270;371;371	.|B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.|.;.;.;PRR5_HUMAN;.	W|L	331|362;335;394;371	.|ENSP00000006251:R362L;ENSP00000384848:R394L;ENSP00000337464:R371L	.|.	G|R	+|+	1|2	0|0	PRR5|PRR5	43511736|43511736	0.042000|0.042000	0.20092|0.20092	0.002000|0.002000	0.10522|0.10522	0.045000|0.045000	0.14185|0.14185	2.266000|2.266000	0.43320|0.43320	1.461000|1.461000	0.47929|0.47929	0.561000|0.561000	0.74099|0.74099	GGG|CGG		PASS	0.622	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		27	67	27	67	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45802744	45802744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:45802744C>A	ENST00000357450.4	-	3	300	c.301G>T	c.(301-303)Gga>Tga	p.G101*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.G101*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	101					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.G101*(4)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGAGCATCCCCCTAAAATA	0.279																																						uc003bgc.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(2)	2						c.(301-303)GGA>TGA		SMC1 structural maintenance of chromosomes							52.0	48.0	49.0					22																	45802744		1797	4054	5851	SO:0001587	stop_gained	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802744C>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.301G>T	22.37:g.45802744C>A	ENSP00000350036:p.Gly101*					SMC1B_uc003bgd.2_Nonsense_Mutation_p.G101*|SMC1B_uc003bge.1_5'UTR	p.G101*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	3	353	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	101					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Nonsense_Mutation	SNP	ENST00000357450.4	37	c.301G>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602103	0.28534	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.44	2.17	0.27698	.	0.607246	0.15481	N	0.260101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.5884	0.39530	0.0:0.7046:0.0:0.2954	.	.	.	.	X	101	.	ENSP00000350036:G101X	G	-	1	0	SMC1B	44181408	0.000000	0.05858	0.125000	0.21846	0.009000	0.06853	-0.192000	0.09587	0.352000	0.24053	-1.022000	0.02435	GGA		PASS	0.279	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	40	5	40	---	---	---	---
FAM19A5	25817	broad.mit.edu	37	22	49042449	49042449	+	Silent	SNP	C	C	T			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr22:49042449C>T	ENST00000402357.1	+	2	286	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM19A5_ENST00000358295.5_Silent_p.D44D|FAM19A5_ENST00000473898.1_Intron	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	51						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.D44D(1)|p.D51D(1)		large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGACCTTGGACCGGGACAGCA	0.677																																						uc003bim.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(151-153)GAC>GAT		family with sequence similarity 19 (chemokine							28.0	36.0	33.0					22																	49042449		2081	4227	6308	SO:0001819	synonymous_variant	25817					extracellular region|integral to membrane		g.chr22:49042449C>T	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.153C>T	22.37:g.49042449C>T						FAM19A5_uc003bio.3_Silent_p.D44D	p.D51D	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	270	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	51					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Silent	SNP	ENST00000402357.1	37	c.153C>T	CCDS46728.1																																																																																				PASS	0.677	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		6	43	6	43	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3242791	3242791	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chrX:3242791T>A	ENST00000217939.6	-	5	1089	c.935A>T	c.(934-936)cAa>cTa	p.Q312L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	312						extracellular vesicular exosome (GO:0070062)		p.Q312L(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)				CTGGGGCAGTTGGAATTTCTC	0.493																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(934-936)CAA>CTA		adlican precursor							103.0	83.0	90.0					X																	3242791		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242791T>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.935A>T	X.37:g.3242791T>A	ENSP00000217939:p.Gln312Leu						p.Q312L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1092	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	312					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.935A>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	4.357	0.065659	0.08388	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.41	0.731	0.18277	.	0.212673	0.23171	U	0.051132	T	0.42200	0.1192	L	0.34521	1.04	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.19353	-1.0308	10	0.42905	T	0.14	.	5.3847	0.16213	0.0:0.0993:0.1739:0.7268	.	312	Q9NR99	MXRA5_HUMAN	L	312	ENSP00000217939:Q312L	ENSP00000217939:Q312L	Q	-	2	0	MXRA5	3252791	0.006000	0.16342	0.002000	0.10522	0.005000	0.04900	-0.054000	0.11826	-0.225000	0.09913	0.347000	0.21830	CAA		PASS	0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		24	33	24	33	---	---	---	---
MAGEB10	139422	broad.mit.edu	37	X	27839468	27839468	+	Silent	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chrX:27839468C>A	ENST00000356790.2	+	3	290	c.45C>A	c.(43-45)cgC>cgA	p.R15R		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	15								p.R15R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGGAAAAACGCCGTCAGGCCC	0.532																																						uc004dbw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)|central_nervous_system(1)	3						c.(43-45)CGC>CGA		melanoma antigen family B, 10							54.0	54.0	54.0					X																	27839468		2202	4300	6502	SO:0001819	synonymous_variant	139422							g.chrX:27839468C>A		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.45C>A	X.37:g.27839468C>A							p.R15R	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	272	+			15					Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.45C>A	CCDS35221.1																																																																																				PASS	0.532	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		10	16	10	16	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109694807	109694807	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chrX:109694807C>G	ENST00000465301.2	+	3	1208	c.962C>G	c.(961-963)tCc>tGc	p.S321C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S321C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	321								p.S321C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAGTAATGTCCACACCGCTA	0.493																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(961-963)TCC>TGC		retrotransposon gag domain containing 1							262.0	237.0	246.0					X																	109694807		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694807C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.962C>G	X.37:g.109694807C>G	ENSP00000419786:p.Ser321Cys					RGAG1_uc011msr.1_Missense_Mutation_p.S321C	p.S321C	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1208	+			321					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.962C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538099	0.45176	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.51574	0.7;0.7	4.32	3.45	0.39498	.	0.767664	0.10809	N	0.631815	T	0.49029	0.1533	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.28004	-1.0057	9	.	.	.	0.0031	5.1156	0.14833	0.0:0.6749:0.2088:0.1162	.	321	Q8NET4	RGAG1_HUMAN	C	321	ENSP00000419786:S321C;ENSP00000441452:S321C	.	S	+	2	0	RGAG1	109581463	0.472000	0.25870	0.001000	0.08648	0.205000	0.24178	1.004000	0.29822	1.150000	0.42419	0.600000	0.82982	TCC		PASS	0.493	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		62	109	62	109	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chrX:151138714G>C	ENST00000370328.3	-	2	270	c.217C>G	c.(217-219)Cgc>Ggc	p.R73G	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R73G	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	73					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCAGGATGCGAGAGGCTTCT	0.547																																						uc004ffi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(217-219)CGC>GGC		gamma-aminobutyric acid (GABA) A receptor,							177.0	158.0	165.0					X																	151138714		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151138714G>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.217C>G	X.37:g.151138714G>C	ENSP00000359353:p.Arg73Gly					GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA	p.R73G	NM_004961	NP_004952	P78334	GBRE_HUMAN			2	271	-	Acute lymphoblastic leukemia(192;6.56e-05)		73			Extracellular (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.217C>G	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	g	16.80	3.223662	0.58668	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.81247	-1.47;-1.47	5.17	2.32	0.28847	Neurotransmitter-gated ion-channel ligand-binding (3);	0.849204	0.10114	N	0.714277	T	0.68238	0.2979	L	0.35542	1.07	0.22240	N	0.999266	P	0.38992	0.653	B	0.37833	0.259	T	0.57406	-0.7817	10	0.46703	T	0.11	.	3.2144	0.06694	0.0992:0.1799:0.5482:0.1727	.	73	P78334	GBRE_HUMAN	G	73	ENSP00000359353:R73G;ENSP00000359350:R73G	ENSP00000359350:R73G	R	-	1	0	GABRE	150889370	0.001000	0.12720	0.003000	0.11579	0.787000	0.44495	0.075000	0.14686	0.114000	0.18032	0.597000	0.82753	CGC		PASS	0.547	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		37	55	37	55	---	---	---	---
RENBP	5973	broad.mit.edu	37	X	153207088	153207088	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chrX:153207088C>A	ENST00000393700.3	-	8	868	c.788G>T	c.(787-789)gGc>gTc	p.G263V	RENBP_ENST00000369997.3_Missense_Mutation_p.G249V|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_Missense_Mutation_p.A236S	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	263					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.G263V(1)|p.G253V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CAGAAACCAGCCGGCTTCCAG	0.627																																						uc004fjo.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(787-789)GGC>GTC		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						55.0	51.0	52.0					X																	153207088		2202	4300	6502	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207088C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.788G>T	X.37:g.153207088C>A	ENSP00000377303:p.Gly263Val					RENBP_uc011mzh.1_Missense_Mutation_p.A236S	p.G263V	NM_002910	NP_002901	P51606	RENBP_HUMAN			8	958	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		263					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.788G>T	CCDS14738.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.985343|2.985343	0.53934|0.53934	.|.	.|.	ENSG00000102032|ENSG00000102032	ENST00000412763|ENST00000393700;ENST00000369997	T|T;T	0.50277|0.29397	0.75|1.57;1.57	5.15|5.15	5.15|5.15	0.70609|0.70609	.|Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59211|0.59211	0.2177|0.2177	M|M	0.83692|0.83692	2.655|2.655	0.36561|0.36561	D|D	0.872422|0.872422	P|D	0.42692|0.89917	0.787|1.0	B|D	0.44044|0.97110	0.439|1.0	T|T	0.68682|0.68682	-0.5344|-0.5344	9|10	0.44086|0.41790	T|T	0.13|0.15	-25.348|-25.348	16.4502|16.4502	0.83977|0.83977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	236|263	P51606-2|P51606	.|RENBP_HUMAN	S|V	236|263;249	ENSP00000387811:A236S|ENSP00000377303:G263V;ENSP00000359014:G249V	ENSP00000387811:A236S|ENSP00000359014:G249V	A|G	-|-	1|2	0|0	RENBP|RENBP	152860282|152860282	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.053000|0.053000	0.15095|0.15095	4.969000|4.969000	0.63735|0.63735	2.139000|2.139000	0.66308|0.66308	0.436000|0.436000	0.28706|0.28706	GCT|GGC		PASS	0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		16	17	16	17	---	---	---	---
MRPS2	51116	broad.mit.edu	37	9	138398099	138398099	+	IGR	DEL	C	C	-			TCGA-43-6771-01A-11D-1817-08	TCGA-43-6771-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	20735861-1f84-4141-a467-f598108e1e41	45949c1f-3899-4e80-b71e-5385c76237c9	g.chr9:138398099delC	ENST00000371785.1	+	0	1640				RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2						translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACCCCAAGAGCCCCCAGAAGA	0.642																																						uc004cfy.2																			0													Homo sapiens, clone IMAGE:4662750, mRNA.																																				SO:0001628	intergenic_variant	0							g.chr9:138398099delC	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910		9.37:g.138398099delC														1		-								Q5T899|Q9BSQ4	RNA	DEL	ENST00000371785.1	37	c.195delG	CCDS6990.1																																																																																					0.642	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			4	2	4	2	---	---	---	---
